Curator Name UniProt ID NCBI Gene ID Gene Name Species Name Taxonomy ID Data Type Data Value GO Term GO ID Uberon Term Uberon ID BRENDA Tissue Ontology Term BRENDA Tissue Ontology ID Anatomy Ontology Term Anatomy Ontology ID Phenotype Ontology Term Phenotype Ontology ID Developmental Stage Term (BRENDA) Developmental Stage ID (BRENDA) Cell Type Ontology Term (CTO or CL) Cell Type Ontology ID (CTO or CL) Cell Line Ontology Term (CLO) Cell Line Ontology ID (CLO) PATO Qualifier PATO ID OMIM ID Human Disease Ontology Term Human Disease Ontology ID SNOMED Term SNOMED ID ChEBI Chemical Term ChEBI Chemical ID Secondary Source IDs Secondary Source Notes Reviewed (Y/N) Use (Y/N) Evidence Code Primary Source Secondary Source PENTACON Notes Gene Set Secondary Source Version Date Secondary Source Version PENTACON Annotation No Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/tissue specificity Lung, testis and peripheral blood mononuclear cells. peripheral blood mononuclear cell BTO:0001025 mononuclear cell CL:0000842 Y Y UniProtKB no PBMC in CL AAP 5/1/2013 139 3000000001 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/function Mediates export of organic anions and drugs from the cytoplasm. Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estradiol-17-beta-o-glucuronide, methotrexate, antiviral drugs and other xenobiotics. Confers resistance to anticancer drugs. Hydrolyzes ATP with low efficiency. Y N ECO:0000006 PubMed:10064732 PubMed:11114332 PubMed:16230346 UniProtKB AAP 5/1/2013 139 3000000002 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB linked to Reactome and GO Ref in GO AAP 5/1/2013 139 3000000003 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/tissue specificity Lung, testis and peripheral blood mononuclear cells. lung UBERON:0002048 lung BTO:0000763 Y Y UniProtKB AAP 5/1/2013 139 3000000004 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/tissue specificity Lung, testis and peripheral blood mononuclear cells. testis UBERON:0000473 testis BTO:0001363 Y Y UniProtKB AAP 5/1/2013 139 3000000005 Faith O15439 10257 ABCC4 Homo sapiens 9606 Comment/function May be an organic anion pump relevant to cellular detoxification. Y N UniProtKB AAP 5/1/2013 126 3000000006 Faith O15439 10257 ABCC4 Homo sapiens 9606 Comment/subcellular location Membrane;Multi-pass membrane protein membrane GO:0016020 SL-0162 Y N PubMed:15297306 UniProtKB already covered in GO annotation AAP 5/1/2013 126 3000000007 Faith O15439 10257 ABCC4 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with particularly high levels in prostate, but is barely detectable in liver. Y N UniProtKB widely expressed AAP 5/1/2013 126 3000000008 Faith O15439 10257 ABCC4 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with particularly high levels in prostate, but is barely detectable in liver. prostate gland UBERON:0002367 prostate gland BTO:0001129 Y Y UniProtKB AAP 5/1/2013 126 3000000009 Faith O15439 10257 ABCC4 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with particularly high levels in prostate, but is barely detectable in liver. liver UBERON:0002107 liver BTO:0000759 Y Y UniProtKB barely detectable AAP 5/1/2013 126 3000000010 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/function Has a dehydrogenase activity on palmitoyl-CoA (C16:0) and stearoyl-CoA (C18:0). It is three times more active on palmitoyl-CoA than on stearoyl-CoA. Has little activity on octanoyl-CoA (C8:0), butyryl-CoA (C4:0) or isovaleryl-CoA (5:0). acyl-CoA dehydrogenase activity GO:0003995 Y N ECO:0000311 UniProtKB GO MF Use=Y AAP 2/6/2013 109 3000000011 Katie/Rose Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/Involvement in disease Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126]: A metabolic disorder with variable manifestations that include dilated cardiomyopathy, liver failure, muscel weakness, neurologic dysfunction, hypoglycemia and Reye-like episodes (brain edema and vomiting that may rapidly progress to seizures, coma and death). Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:611126 The disease is caused by mutations affecting the gene represented in this entry. Y N ECO:0000311 UniProtKB No HDO, SNOMED, or ICDM term AAP 5/1/2013 112 3000000012 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/subcellular location Mitochondrion mitochondrion GO:0005739 SL-0173 Y N ECO:0000311 UniProtKB AAP 2/6/2013 109 3000000013 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. Y N ECO:0000006 PubMed:12359260 UniProtKB cancer cell lines with high level of expression in heart AAP 2/6/2013 109 3000000014 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. Y N ECO:0000006 PubMed:12359260 UniProtKB Ubiquitously expressed in most normal human tissues AAP 2/6/2013 109 3000000015 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:12359260 UniProtKB AAP 2/6/2013 109 3000000016 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:12359260 UniProtKB AAP 2/6/2013 109 3000000017 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:12359260 UniProtKB AAP 2/6/2013 109 3000000018 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:12359260 UniProtKB AAP 2/6/2013 109 3000000019 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:12359260 UniProtKB AAP 2/6/2013 109 3000000020 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 EC 1.3.99.- Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 109 3000000021 Rose P24752 38 ACAT1 Homo sapiens 9606 Comment/function Plays a major role in ketone body metabolism. Y N ECO:0000311 UniProtKB AAP 11/28/2012 141 3000000022 Rose P24752 38 ACAT1 Homo sapiens 9606 Comment/Involvement in disease 3-ketothiolase deficiency (3KTD) [MIM:203750]: An inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:203750 beta-ketothiolase deficiency DOID:14723 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:1346617 PubMed:1715688 PubMed:7728148 PubMed:9744475 UniProtKB AAP 5/1/2013 144 3000000023 Rose P24752 38 ACAT1 Homo sapiens 9606 Comment/subcellular location Mitochondrion mitochondrion GO:0005739 SL-0173 Y N ECO:0000311 UniProtKB AAP 11/28/2012 141 3000000024 Rose P24752 38 ACAT1 Homo sapiens 9606 EC 2.3.1.9 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 141 3000000025 Faith Q86TX2 641371 ACOT1 Homo sapiens 9606 EC 3.1.2.2 Y Y EC number UniProtKB AAP 5/1/2013 87 3000000026 Faith Q86TX2 641371 ACOT1 Homo sapiens 9606 Comment/function Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Active towards fatty acyl-CoA with chain-lengths of C12-C16 (By similarity). Y N UniProtKB AAP 5/1/2013 87 3000000027 Faith Q86TX2 641371 ACOT1 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N UniProtKB Has cytosol in GO AAP 5/1/2013 87 3000000028 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 EC 3.1.2.- Y Y EC number UniProtKB AAP 5/1/2013 113 3000000029 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/function Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates. Y N UniProtKB AAP 5/1/2013 113 3000000030 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N PMID:11696000 UniProtKB Already in GO AAP 5/1/2013 113 3000000031 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/Sequence caution The sequence BAA31682.1 (EMBL-CDS). Reason: erroneous initiation Y N UniProtKB AAP 5/1/2013 113 3000000032 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/induction By cold exposure and repressed by heat exposure. Y N UniProtKB AAP 5/1/2013 113 3000000033 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 EC 3.1.2.- Y Y EC number UniProtKB AAP 5/29/2013 101 3000000034 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Comment/function Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates. Can also hydrolyze 3-hydroxyphenylacetyl-CoA and 3,4-dihydrohyphenylacetyl-CoA (in vitro). Y N ECO:0000006 PubMed:16934754 PubMed:19170545 UniProtKB AAP 5/29/2013 101 3000000035 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y UniProtKB AAP 5/29/2013 101 3000000036 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Comment/subcellular location Mitochondrion mitochondrion GO:0005739 SL-0173 Y N UniProtKB Already in GO AAP 5/29/2013 101 3000000037 Faith P49753 10965 ACOT2 Homo sapiens 9606 EC 3.1.2.2 Y Y EC number UniProtKB AAP 5/29/2013 127 3000000038 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/function Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Displays high levels of activity on medium- and long chain acyl CoAs. Y N ECO:0000006 PubMed:10944470 UniProtKB AAP 5/29/2013 127 3000000039 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/Caution Was originally (PubMed:10944470) thought to be peroxisomal but was later shown (PubMed:16940157) to be mitochondrial. Y N UniProtKB AAP 5/29/2013 127 3000000040 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/subcellular location Mitochondrion mitochondrion GO:0005739 SL-0173 Y N PMID:16940157 UniProtKB Already in GO AAP 5/29/2013 127 3000000041 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3000000042 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3000000043 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. musculature UBERON:0001015 muscle BTO:0000887 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3000000044 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3000000045 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3000000046 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. pancreas UBERON:0001264 pancreas BTO:0000988 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3000000047 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/Sequence caution The sequence AAC42007.1 (EMBL-CDS). Reason: frameshift Y N UniProtKB AAP 5/29/2013 127 3000000048 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 EC 3.1.2.2 Y Y EC number UniProtKB AAP 5/1/2013 92 3000000049 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/function Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH (By similarity). Succinyl-CoA thioesterase that also hydrolyzes long chain saturated and unsaturated monocarboxylic acyl-CoAs. Y N UniProtKB AAP 5/1/2013 92 3000000050 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/miscellaneous Human ACOT4 may have acquired the combined activities of mouse ACOT3, ACOT4, and ACOT5. Y N UniProtKB AAP 5/1/2013 92 3000000051 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/subcellular location Peroxisome peroxisome GO:0005777 SL-0204 Y N PMID:16141203 PMID:16940157 UniProtKB Already in GO AAP 5/1/2013 92 3000000052 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/tissue specificity Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/1/2013 92 3000000053 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/tissue specificity Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/1/2013 92 3000000054 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/tissue specificity Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle. placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/1/2013 92 3000000055 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/tissue specificity Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/1/2013 92 3000000056 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/tissue specificity Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle. musculature UBERON:0001015 muscle BTO:0000887 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/1/2013 92 3000000057 Faith O00154 11332 ACOT7 Homo sapiens 9606 EC 3.1.2.2 Y Y EC number UniProtKB AAP 6/26/2013 124 3000000058 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/function Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. May play an important physiological function in brain. May play a regulatory role by modulating the cellular levels of fatty acyl-CoA ligands for certain transcription factors as well as the substrates for fatty acid metabolizing enzymes, contributing to lipid homeostasis. Has broad specificity, active towards fatty acyl-CoAs with chain-lengths of C8-C18. Has a maximal activity toward palmitoyl-CoA. Y N UniProtKB AAP 6/26/2013 124 3000000059 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/subcellular location Mitochondrion mitochondrion GO:0005739 SL-0173 Y N UniProtKB Already in GO with "Inferred from Electronic Annotation" AAP 6/26/2013 124 3000000060 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/Sequence caution The sequence CAI19774.1 (EMBL-CDS). Reason: erroneous initiation Y N UniProtKB AAP 6/26/2013 124 3000000061 Faith O14734 10005 ACOT8 Homo sapiens 9606 EC 3.1.2.27 Y Y EC number UniProtKB AAP 5/29/2013 124 3000000062 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/function Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. May mediate Nef-induced down-regulation of CD4. Major thioesterase in peroxisomes. Competes with BAAT (Bile acid CoA: amino acid N-acyltransferase) for bile acid-CoA substrate (such as chenodeoxycholoyl-CoA). Shows a preference for medium-length fatty acyl-CoAs (By similarity). May be involved in the metabolic regulation of peroxisome proliferation. Y N ECO:0000006 PubMed:15194431 UniProtKB AAP 5/29/2013 124 3000000063 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/subcellular location Peroxisome peroxisome GO:0005777 SL-0204 Y N UniProtKB Has peroxisomal matrix in GO AAP 5/29/2013 124 3000000064 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity Detected in a T-cell line (at protein level). Ubiquitous. JURKAT cell BTO:0000661 JURKAT cell CLO:0007043 Y Y ECO:0000006 PubMed:9299485 UniProtKB Screened Jurkat cDNA library AAP 5/29/2013 124 3000000065 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/induction Regulated by peroxisome proliferator (such as Clofibrate), via the peroxisome proliferator-activated receptors (PPARs) (By similarity). Y N UniProtKB AAP 5/29/2013 124 3000000066 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:9299485 Found when looking for the T-cell line name AAP 5/29/2013 124 3000000067 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:9299485 Found when looking for the T-cell line name AAP 5/29/2013 124 3000000068 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000006 PubMed:9299485 Found when looking for the T-cell line name AAP 5/29/2013 124 3000000069 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000006 PubMed:9299485 Found when looking for the T-cell line name AAP 5/29/2013 124 3000000070 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:9299485 Found when looking for the T-cell line name AAP 5/29/2013 124 3000000071 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:9299485 Found when looking for the T-cell line name AAP 5/29/2013 124 3000000072 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:9299485 Found when looking for the T-cell line name AAP 5/29/2013 124 3000000073 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity pancreas UBERON:0001264 pancreas BTO:0000988 Y Y ECO:0000006 PubMed:9299485 Found when looking for the T-cell line name AAP 5/29/2013 124 3000000074 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity spleen UBERON:0002106 spleen BTO:0001281 Y Y ECO:0000006 PubMed:9299485 Found when looking for the T-cell line name AAP 5/29/2013 124 3000000075 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity thymus UBERON:0002370 thymus BTO:0001374 Y Y ECO:0000006 PubMed:9299485 Found when looking for the T-cell line name AAP 5/29/2013 124 3000000076 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity prostate gland UBERON:0002367 prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:9299485 Found when looking for the T-cell line name AAP 5/29/2013 124 3000000077 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity testis UBERON:0000473 testis BTO:0001363 Y Y ECO:0000006 PubMed:9299485 Found when looking for the T-cell line name AAP 5/29/2013 124 3000000078 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity female gonad UBERON:0000992 ovary BTO:0000975 Y Y ECO:0000006 PubMed:9299485 Found when looking for the T-cell line name AAP 5/29/2013 124 3000000079 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity small intestine UBERON:0002108 small intestine BTO:0000651 Y Y ECO:0000006 PubMed:9299485 Found when looking for the T-cell line name AAP 5/29/2013 124 3000000080 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity colon UBERON:0001155 colon BTO:0000269 Y Y ECO:0000006 PubMed:9299485 Found when looking for the T-cell line name AAP 5/29/2013 124 3000000081 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity peripheral blood lymphocyte BTO:0004729 Y Y ECO:0000006 PubMed:9299485 Found when looking for the T-cell line name AAP 5/29/2013 124 3000000082 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/developmental stage Expressed during the early stages of erythroid development while expression is very low in reticulocytes and young erythrocytes. erythrocyte BTO:0000424 erythrocyte CL:0000232 Y Y ECO:0000311 UniProtKB no Uberon term AAP 1/9/2013 123 3000000083 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/developmental stage Expressed during the early stages of erythroid development while expression is very low in reticulocytes and young erythrocytes. erythroid cell BTO:0002731 erythroid lineage cell CL:0000764 Y Y ECO:0000311 UniProtKB no Uberon term AAP 1/9/2013 123 3000000084 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. erythroid cell BTO:0002731 erythroid lineage cell CL:0000764 Y Y ECO:0000006 PubMed:10548543 UniProtKB no Uberon term AAP 1/9/2013 123 3000000085 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/developmental stage Expressed during the early stages of erythroid development while expression is very low in reticulocytes and young erythrocytes. reticulocyte BTO:0001173 reticulocyte CL:0000558 Y Y ECO:0000311 UniProtKB no Uberon term AAP 1/9/2013 123 3000000086 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/function Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses palmitoleate, oleate and linoleate. Y N ECO:0000311 UniProtKB AAP 1/9/2013 123 3000000087 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/Sequence caution The sequence BAC04704.1 (EMBL-CDS). Reason: erroneous initiation Y N ECO:0000311 UniProtKB AAP 1/9/2013 123 3000000088 Mike P33121 2180 ACSL1 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Single-pass type III membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N by similarity UniProtKB AAP 1/9/2013 123 3000000089 Mike P33121 2180 ACSL1 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Single-pass type III membrane protein microsome GO:0005792 SL-0165 Y N by similarity UniProtKB AAP 1/9/2013 123 3000000090 Mike P33121 2180 ACSL1 Homo sapiens 9606 Comment/subcellular location Mitochondrion outer membrane;Single-pass type III membrane protein mitochondrial outer membrane GO:0005741 SL-0172 Y N by similarity UniProtKB AAP 1/9/2013 123 3000000091 Mike P33121 2180 ACSL1 Homo sapiens 9606 Comment/subcellular location Peroxisome membrane;Single-pass type III membrane protein peroxisomal membrane GO:0005778 SL-0203 Y N by similarity UniProtKB AAP 1/9/2013 123 3000000092 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3000000093 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3000000094 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3000000095 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3000000096 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3000000097 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. pancreas UBERON:0001264 pancreas BTO:0000988 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3000000098 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3000000099 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3000000100 Rose P33121 2180 ACSL1 Homo sapiens 9606 EC 6.2.1.3 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 123 3000000101 Mike O95573 2181 ACSL3 Homo sapiens 9606 Comment/function Acyl-CoA synthetases (ACSL) activates long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. ACSL3 mediates hepatic lipogenesis (By similarity). Preferentially uses myristate, laurate, arachidonate and eicosapentaenoate as substrates (By similarity). Has mainly an anabolic role in energy metabolism. Required for the incorporation of fatty acids into phosphatidylcholine, the major phospholipid located on the surface of VLDL (very low density lipoproteins). Y N ECO:0000006 PubMed:18003621 UniProtKB AAP 1/9/2013 115 3000000102 Mike O95573 2181 ACSL3 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Single-pass type III membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N by similarity UniProtKB AAP 1/9/2013 115 3000000103 Mike O95573 2181 ACSL3 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Single-pass type III membrane protein microsome GO:0005792 SL-0165 Y N by similarity UniProtKB AAP 1/9/2013 115 3000000104 Mike O95573 2181 ACSL3 Homo sapiens 9606 Comment/subcellular location Mitochondrion outer membrane;Single-pass type III membrane protein mitochondrial outer membrane GO:0005741 SL-0172 Y N by similarity UniProtKB AAP 1/9/2013 115 3000000105 Mike O95573 2181 ACSL3 Homo sapiens 9606 Comment/subcellular location Peroxisome membrane;Single-pass type III membrane protein peroxisomal membrane GO:0005778 SL-0203 Y N by similarity UniProtKB AAP 1/9/2013 115 3000000106 Mike O95573 2181 ACSL3 Homo sapiens 9606 EC 6.2.1.3 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 115 3000000107 Mike O60488 2182 ACSL4 Homo sapiens 9606 Comment/function Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses arachidonate and eicosapentaenoate as substrates. Y N ECO:0000311 UniProtKB AAP 11/28/2012 131 3000000108 Mike O60488 2182 ACSL4 Homo sapiens 9606 Comment/Involvement in disease Mental retardation, X-linked 63 (MRX63) [MIM:300387]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:300387 intellectual disability DOID:1059 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:11889465 UniProtKB ICD:317-319.99 319 AAP 5/1/2013 134 3000000109 Mike O60488 2182 ACSL4 Homo sapiens 9606 Comment/Involvement in disease Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR) [MIM:300194]: A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis. Note=The gene represented in this entry may be involved in disease pathogenesis. MIM:300194 Alport syndrome DOID:10983 The gene represented in this entry may be involved in disease pathogenesis. Y Y ECO:0000311 UniProtKB The HDO term refers to the autosomal version of the disease. The OMIM term is a better match to the UniProt description. AAP 5/1/2013 134 3000000110 Mike O60488 2182 ACSL4 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Single-pass type III membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N by similarity UniProtKB AAP 11/28/2012 131 3000000111 Mike O60488 2182 ACSL4 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Single-pass type III membrane protein microsome GO:0005792 SL-0165 Y N by similarity UniProtKB AAP 11/28/2012 131 3000000112 Mike O60488 2182 ACSL4 Homo sapiens 9606 Comment/subcellular location Mitochondrion outer membrane;Single-pass type III membrane protein mitochondrial outer membrane GO:0005741 SL-0172 Y N by similarity UniProtKB AAP 11/28/2012 131 3000000113 Mike O60488 2182 ACSL4 Homo sapiens 9606 Comment/subcellular location Peroxisome membrane;Single-pass type III membrane protein peroxisomal membrane GO:0005778 SL-0203 Y N by similarity UniProtKB AAP 11/28/2012 131 3000000114 Mike O60488 2182 ACSL4 Homo sapiens 9606 EC 6.2.1.3 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 131 3000000115 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Comment/function Acyl-CoA synthetases (ACSL) activate long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. ACSL5 may activate fatty acids from exogenous sources for the synthesis of triacylglycerol destined for intracellular storage (By similarity). Utilizes a wide range of saturated fatty acids with a preference for C16-C18 unsaturated fatty acids (By similarity). It was suggested that it may also stimulate fatty acid oxidation (By similarity). At the villus tip of the crypt-villus axis of the small intestine may sensitize epithelial cells to apoptosis specifically triggered by the death ligand TRAIL. May have a role in the survival of glioma cells. Y N ECO:0000006 PubMed:17681178 PubMed:19459852 PubMed:18806831 UniProtKB AAP 11/28/2012 121 3000000116 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Comment/Sequence caution The sequence BAA86054.1 (EMBL-CDS). Reason: erroneous gene model prediction Y N ECO:0000311 UniProtKB AAP 11/28/2012 121 3000000117 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum endoplasmic reticulum GO:0005783 SL-0095 Y N ECO:0000311 UniProtKB AAP 11/28/2012 121 3000000118 Mike Q9ULC5 51703 ACSL5 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Single-pass type III membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N by similarity UniProtKB AAP 11/28/2012 121 3000000119 Mike Q9ULC5 51703 ACSL5 Homo sapiens 9606 Comment/subcellular location Mitochondrion outer membrane;Single-pass type III membrane protein mitochondrial outer membrane GO:0005741 SL-0172 Y N by similarity UniProtKB AAP 11/28/2012 121 3000000120 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Comment/subcellular location Mitochondrion mitochondrion GO:0005739 SL-0173 Y N ECO:0000311 UniProtKB AAP 11/28/2012 121 3000000121 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 EC 6.2.1.3 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 121 3000000122 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. K-562 cell CLO:0007059 Y Y ECO:0000006 PubMed:10548543 From publication AAP 6/26/2013 124 3000000123 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. reticulocyte BTO:0001173 reticulocyte CL:0000558 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 6/26/2013 124 3000000124 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 EC 6.2.1.3 Y Y EC number UniProtKB AAP 6/26/2013 124 3000000125 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/function Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Plays an important role in fatty acid metabolism in brain and the acyl-CoAs produced may be utilized exclusively for the synthesis of the brain lipid. Y N UniProtKB AAP 6/26/2013 124 3000000126 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/subcellular location Mitochondrion outer membrane;Single-pass type III membrane protein mitochondrial outer membrane GO:0005741 SL-0172 Y N by similarity UniProtKB AAP 6/26/2013 124 3000000127 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/subcellular location Peroxisome membrane;Single-pass type III membrane protein peroxisomal membrane GO:0005778 SL-0203 Y N by similarity UniProtKB AAP 6/26/2013 124 3000000128 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Single-pass type III membrane protein microsome GO:0005792 SL-0165 Y N by similarity UniProtKB AAP 6/26/2013 124 3000000129 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Single-pass type III membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N by similarity UniProtKB AAP 6/26/2013 124 3000000130 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. Y N ECO:0000006 PubMed:10548543 UniProtKB Erythrocyte precursors AAP 6/26/2013 124 3000000131 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. hematopoietic cell BTO:0000574 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10548543 UniProtKB From liver AAP 6/26/2013 124 3000000132 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. hematopoietic stem cell BTO:0000725 umbilical cord blood cell BTO:0004054 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 6/26/2013 124 3000000133 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. bone marrow UBERON:0002371 bone marrow BTO:0000141 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 6/26/2013 124 3000000134 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:10548543 From publication AAP 6/26/2013 124 3000000135 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/developmental stage Expression is low at earlier stages of erythroid development but is very high in reticulocytes. Y N UniProtKB hard to capture information by ontology AAP 6/26/2013 124 3000000136 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/Involvement in disease Note=A chromosomal aberration involving ACSL6 may be a cause of myelodysplastic syndrome with basophilia. Translocation t(5;12)(q31;p13) with ETV6. myelodysplastic myeloproliferative cancer DOID:4972 Myelodysplastic syndrome SNOMEDCT:128623006 A chromosomal aberration involving ACSL6 may be a cause of myelodysplastic syndrome with basophilia. Translocation t(5;12)(q31;p13) with ETV6. Y Y UniProtKB myelodysplastic syndrome with basophilia AAP 6/26/2013 124 3000000137 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/Involvement in disease Note=A chromosomal aberration involving ACSL6 may be a cause of myelodysplastic syndrome with basophilia. Translocation t(5;12)(q31;p13) with ETV6. Basophilia SNOMEDCT:65209002 Y Y UniProtKB myelodysplastic syndrome with basophilia AAP 6/26/2013 124 3000000138 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/Involvement in disease Note=A chromosomal aberration involving ACSL6 may be a cause of acute myelogenous leukemia with eosinophilia. Translocation t(5;12)(q31;p13) with ETV6. acute myeloid leukemia DOID:9119 Acute myeloid leukemia SNOMEDCT:17788007 A chromosomal aberration involving ACSL6 may be a cause of acute myelogenous leukemia with eosinophilia. Translocation t(5;12)(q31;p13) with ETV6. Y Y UniProtKB acute myelogenous leukemia with eosinophilia AAP 6/26/2013 124 3000000139 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/Involvement in disease Note=A chromosomal aberration involving ACSL6 may be a cause of acute myelogenous leukemia with eosinophilia. Translocation t(5;12)(q31;p13) with ETV6. eosinophilia DOID:999 A chromosomal aberration involving ACSL6 may be a cause of acute myelogenous leukemia with eosinophilia. Translocation t(5;12)(q31;p13) with ETV6. Y Y UniProtKB acute myelogenous leukemia with eosinophilia AAP 6/26/2013 124 3000000140 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/Involvement in disease Note=A chromosomal aberration involving ACSL6 may be a cause of acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ETV6. A chromosomal aberration involving ACSL6 may be a cause of acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ETV6. Y N UniProtKB No ontology term. MeSH term defines this as: A rare acute myeloid leukemia characterized by abnormal EOSINOPHILS in the bone marrow. AAP 6/26/2013 124 3000000141 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/Sequence caution The sequence BAA74860.1 (EMBL-CDS). Reason: erroneous initiation. Translation N-terminally shortened. Y Y UniProtKB AAP 6/26/2013 124 3000000142 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/function Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. lysophosphatidic acid acyltransferase activity GO:0042171 Y N ECO:0000311 UniProtKB GO MF Use=Y AAP 1/9/2013 119 3000000143 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/Involvement in disease Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:608594 congenital generalized lipodystrophy DOID:0050585 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:11967537 UniProtKB AAP 5/1/2013 122 3000000144 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/pathway Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3. CDP-diacylglycerol biosynthetic process GO:0016024 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 119 3000000145 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/pathway Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3. phospholipid metabolic process GO:0006644 UPA00085 Y N ECO:0000311 UniProtKB GO:0006654 is more specific AAP 1/9/2013 119 3000000146 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/subcellular location Membrane;Multi-pass membrane protein membrane GO:0016020 SL-0162 Y N potential UniProtKB AAP 1/9/2013 119 3000000147 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in heart and liver. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 119 3000000148 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in heart and liver. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 119 3000000149 Mike O15120 10555 AGPAT2 Homo sapiens 9606 EC 2.3.1.51 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 119 3000000150 Mike Q9NRZ5 56895 AGPAT4 Homo sapiens 9606 Comment/function Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (By similarity). Y N by similarity UniProtKB AAP 1/9/2013 102 3000000151 Katie Q9NRZ5 56895 AGPAT4 Homo sapiens 9606 Comment/pathway Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3. CDP-diacylglycerol biosynthetic process GO:0016024 UPA00085 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 102 3000000152 Katie Q9NRZ5 56895 AGPAT4 Homo sapiens 9606 Comment/pathway Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3. phospholipid metabolic process GO:0006644 UPA00085 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 102 3000000153 Mike Q9NRZ5 56895 AGPAT4 Homo sapiens 9606 Comment/subcellular location Membrane;Multi-pass membrane protein membrane GO:0016020 SL-0162 Y N potential UniProtKB AAP 1/9/2013 102 3000000154 Katie Q9NRZ5 56895 AGPAT4 Homo sapiens 9606 EC 2.3.1.51 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 102 3000000155 Katie Q9NUQ2 55326 AGPAT5 Homo sapiens 9606 Comment/Caution It is uncertain whether Met-1 or Met-12 is the initiator. Y N ECO:0000311 UniProtKB AAP 1/9/2013 97 3000000156 Mike Q9NUQ2 55326 AGPAT5 Homo sapiens 9606 Comment/function Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (By similarity). Y N by similarity UniProtKB AAP 1/9/2013 97 3000000157 Katie Q9NUQ2 55326 AGPAT5 Homo sapiens 9606 Comment/pathway Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3. CDP-diacylglycerol biosynthetic process GO:0016024 UPA00085 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 97 3000000158 Katie Q9NUQ2 55326 AGPAT5 Homo sapiens 9606 Comment/pathway Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3. phospholipid metabolic process GO:0006644 UPA00085 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 97 3000000159 Katie Q9NUQ2 55326 AGPAT5 Homo sapiens 9606 Comment/Sequence caution The sequence BAA92069.1 (EMBL-CDS). Reason: erroneous initiation Y N ECO:0000311 UniProtKB AAP 1/9/2013 97 3000000160 Mike Q9NUQ2 55326 AGPAT5 Homo sapiens 9606 Comment/subcellular location Membrane;Multi-pass membrane protein membrane GO:0016020 SL-0162 Y N potential UniProtKB AAP 1/9/2013 97 3000000161 Katie Q9NUQ2 55326 AGPAT5 Homo sapiens 9606 EC 2.3.1.51 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 97 3000000162 Mike P15121 231 AKR1B1 Homo sapiens 9606 Comment/function Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols with a broad range of catalytic efficiencies. Y N ECO:0000311 UniProtKB AAP 11/28/2012 157 3000000163 Mike P15121 231 AKR1B1 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N ECO:0000311 UniProtKB covered by GO AAP 11/28/2012 157 3000000164 Mike P15121 231 AKR1B1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in embryonic epithelial cells (EUE) in response to osmotic stress. epithelium UBERON:0000483 EUE cell BTO:0000430 Y Y ECO:0000006 PubMed:8435445 UniProtKB BRENDA term is perfect match to description. AAP 11/28/2012 157 3000000165 Mike P15121 231 AKR1B1 Homo sapiens 9606 EC 1.1.1.21 Y Y ECO:0000311 EC number UniProtKB This EC number describes many reactions. AAP 11/28/2012 157 3000000166 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/function Catalyzes the conversion of aldehydes and ketones to alcohols. Catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ) and the oxidation of 9-alpha,11-beta-PGF2 to PGD2. Functions as a bi-directional 3-alpha-, 17-beta- and 20-alpha HSD. Can interconvert active androgens, estrogens and progestins with their cognate inactive metabolites. Preferentially transforms androstenedione (4-dione) to testosterone. Y Y ECO:0000311 UniProtKB AAP 2/6/2013 142 3000000167 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/Sequence caution The sequence BAA04619.2 (EMBL-CDS). Reason: erroneous initiation. Translation N-terminally extended. Y N ECO:0000311 UniProtKB AAP 2/6/2013 142 3000000168 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N ECO:0000311 UniProtKB AAP 2/6/2013 142 3000000169 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. Y N ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB In the prostate (redundant entry) AAP 2/6/2013 142 3000000170 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. medulla oblongata UBERON:0001896 medulla oblongata BTO:0000041 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB Need to double-check AAP 2/6/2013 142 3000000171 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. Y N ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB The dominant HSD in prostate (redundant entry) AAP 2/6/2013 142 3000000172 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. adrenal gland UBERON:0002369 adrenal gland BTO:0000047 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000173 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. amygdala UBERON:0001876 amygdala BTO:0001042 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000174 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000175 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000176 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. caudate nucleus UBERON:0001873 caudate nucleus BTO:0000211 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000177 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. colon UBERON:0001155 colon BTO:0000269 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000178 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. hippocampal formation UBERON:0002421 hippocampus BTO:0000601 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000179 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000180 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000181 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000182 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. mammary gland UBERON:0001911 mammary gland BTO:0000817 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000183 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. mammary gland UBERON:0001911 mammary gland BTO:0000817 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000184 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000185 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. prostate gland UBERON:0002367 prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000186 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. prostate epithelium UBERON:0000428 prostate gland epithelium BTO:0002397 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000187 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. small intestine UBERON:0002108 small intestine BTO:0000651 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000188 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. spinal cord UBERON:0002240 spinal cord BTO:0001279 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000189 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. spleen UBERON:0002106 spleen BTO:0001281 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000190 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. substantia nigra UBERON:0002038 substantia nigra BTO:0000143 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000191 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. temporal lobe UBERON:0001871 temporal lobe BTO:0001355 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000192 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. testis UBERON:0000473 testis BTO:0001363 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000193 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. nucleus of thalamus UBERON:0007692 thalamic nucleus BTO:0002452 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000194 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. thalamus UBERON:0001897 thalamus BTO:0001365 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3000000195 Rose P42330 8644 AKR1C3 Homo sapiens 9606 EC 1.-.-.- Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 142 3000000196 Rose P18054 239 ALOX12 Homo sapiens 9606 Comment/function Oxygenase and 14,15-leukotriene A4 synthase activity. Y N ECO:0000311 UniProtKB AAP 1/9/2013 143 3000000197 Rose P18054 239 ALOX12 Homo sapiens 9606 Comment/pathway Lipid metabolism; leukotriene D4 biosynthesis. lipid metabolic process GO:0006629 UPA00436 Y N ECO:0000311 UniProtKB Not involved in leukotriene synthesis AAP 1/9/2013 143 3000000198 Rose P18054 239 ALOX12 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y ECO:0000311 UniProtKB GO has "cytosol" AAP 1/9/2013 143 3000000199 Rose P18054 239 ALOX12 Homo sapiens 9606 EC 1.13.11.31 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 143 3000000200 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/tissue specificity Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. B-lymphocyte BTO:0000776 B cell CL:0000236 Y Y ECO:0000006 PubMed:9618483 UniProtKB AAP 11/28/2012 116 3000000201 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/tissue specificity Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. skin of prepuce of penis UBERON:0001471 prepuce BTO:0001113 keratinocyte CL:0000312 Y Y ECO:0000006 PubMed:9618483 UniProtKB AAP 11/28/2012 116 3000000202 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/function Converts arachidonic acid to 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). arachidonic acid metabolic process GO:0019369 Y Y ECO:0000006 PubMed:9618483 UniProtKB can't find GO MF or EC code for the R enentiomer AAP 11/28/2012 116 3000000203 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/Involvement in disease Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]: A non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. Most affected individuals are born with a tight, shiny, translucent covering called collodion membrane. The collodion membrane subsequently evolves into generalized scaling and intense redness of the skin. Clinical features are milder than in lamellar ichthyoses and demonstrate a greater variability in the intensity of erythema, size and type of scales. In contrast to lamellar ichthyoses, scales are usually white, fine and powdery, and palms and soles are severely affected. Patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:242100 congenital ichthyosiform erythroderma DOID:1699 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:11773004 UniProtKB AAP 5/1/2013 119 3000000204 Mike/Rose O75342 242 ALOX12B Homo sapiens 9606 Comment/pathway Lipid metabolism; leukotriene D4 biosynthesis. leukotriene D4 biosynthetic process GO:1901750 Y N ECO:0000311 UniProtKB AAP 11/28/2012 116 3000000205 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/tissue specificity Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. skin BTO:0001253 psoriasis DOID:8893 Y Y ECO:0000006 PubMed:9618483 UniProtKB AAP 11/28/2012 116 3000000206 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/tissue specificity Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. hair follicle UBERON:0002073 hair follicle BTO:0000554 Y Y ECO:0000006 PubMed:9618483 UniProtKB AAP 11/28/2012 116 3000000207 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/tissue specificity Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. skin of body UBERON:0002097 skin BTO:0001253 Y Y ECO:0000006 PubMed:9618483 UniProtKB AAP 11/28/2012 116 3000000208 Mike O75342 242 ALOX12B Homo sapiens 9606 EC 1.13.11.- Y Y ECO:0000311 EC number UniProtKB Note: 1.13.11.31 refers to the S-enantiomer. AAP 11/28/2012 116 3000000209 Mike P16050 246 ALOX15 Homo sapiens 9606 Comment/function Converts arachidonic acid to 15S-hydroperoxyeicosatetraenoic acid. Also acts on C-12 of arachidonate as well as on linoleic acid. arachidonate 15-lipoxygenase activity GO:0050473 Y N ECO:0000311 UniProtKB GO MF Use=Y AAP 11/28/2012 139 3000000210 Mike/Rose P16050 246 ALOX15 Homo sapiens 9606 Comment/pathway Lipid metabolism; leukotriene D4 biosynthesis. leukotriene D4 biosynthetic process GO:1901750 UPA00436 Y N ECO:0000311 UniProtKB Literature curation shows this is not involved in leukotriene synthesis. AAP 11/28/2012 139 3000000211 Mike P16050 246 ALOX15 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N ECO:0000311 UniProtKB covered by GO AAP 11/28/2012 139 3000000212 Mike P16050 246 ALOX15 Homo sapiens 9606 EC 1.13.11.33 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 139 3000000213 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/function Converts arachidonic acid exclusively to 15S-hydroperoxyeicosatetraenoic acid, while linoleic acid is less well metabolized. Y N ECO:0000311 UniProtKB covered by GO:0050473 AAP 11/28/2012 125 3000000214 Mike/Rose O15296 247 ALOX15B Homo sapiens 9606 Comment/pathway Lipid metabolism; leukotriene D4 biosynthesis. leukotriene D4 biosynthetic process GO:1901750 Y N ECO:0000311 UniProtKB not found in OntoMaton AAP 11/28/2012 125 3000000215 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/Sequence caution The sequence AAD37786.1 (EMBL-CDS). Reason: erroneous gene model prediction Y N ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000216 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000217 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/tissue specificity Expressed in hair, prostate, lung and cornea. cornea UBERON:0000964 cornea BTO:0000286 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000218 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/tissue specificity Expressed in hair, prostate, lung and cornea. strand of hair UBERON:0001037 hair BTO:0001501 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000219 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/tissue specificity Expressed in hair, prostate, lung and cornea. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000220 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/tissue specificity Expressed in hair, prostate, lung and cornea. prostate gland UBERON:0002367 prostate gland BTO:0001129 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000221 Mike O15296 247 ALOX15B Homo sapiens 9606 EC 1.13.11.33 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 125 3000000222 Mike P09917 240 ALOX5 Homo sapiens 9606 Comment/function Catalyzes the first step in leukotriene biosynthesis, and thereby plays a role in inflammatory processes. inflammatory response GO:0006954 Y Y ECO:0000006 PubMed:21233389 UniProtKB AAP 11/28/2012 143 3000000223 Mike P09917 240 ALOX5 Homo sapiens 9606 Comment/function Catalyzes the first step in leukotriene biosynthesis, and thereby plays a role in inflammatory processes. leukotriene A4 biosynthetic process GO:1901753 Y Y ECO:0000006 PubMed:21233389 UniProtKB AAP 11/28/2012 143 3000000224 Mike P09917 240 ALOX5 Homo sapiens 9606 Comment/pathway Lipid metabolism; leukotriene A4 biosynthesis. lipid metabolic process GO:0006629 UPA00436 Y N ECO:0000311 UniProtKB already covered AAP 11/28/2012 143 3000000225 Mike P09917 240 ALOX5 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N ECO:0000311 UniProtKB already covered in GO annotation AAP 11/28/2012 143 3000000226 Mike P09917 240 ALOX5 Homo sapiens 9606 Comment/subcellular location Nucleus matrix nuclear matrix GO:0016363 SL-0181 Y N ECO:0000311 UniProtKB already covered in GO annotation AAP 11/28/2012 143 3000000227 Mike P09917 240 ALOX5 Homo sapiens 9606 Comment/subcellular location Nucleus membrane;Peripheral membrane protein nuclear membrane GO:0031965 SL-0182 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 143 3000000228 Mike P09917 240 ALOX5 Homo sapiens 9606 Comment/subcellular location Shuttles between cytoplasm and nucleus. Found exclusively in the nucleus, when phosphorylated on Ser-272. Calcium binding promotes translocation from the cytosol and the nuclear matrix to the nuclear envelope and membrane association. Y N ECO:0000311 UniProtKB AAP 11/28/2012 143 3000000229 Mike P09917 240 ALOX5 Homo sapiens 9606 EC 1.13.11.34 Y Y ECO:0000311 EC number UniProtKB EC number specifies synthesis of leukotriene A4 from Arachidonic acid AAP 11/28/2012 143 3000000230 Rose P20292 241 ALOX5AP Homo sapiens 9606 Comment/function Required for leukotriene biosynthesis by ALOX5 (5-lipoxygenase). Anchors ALOX5 to the membrane. Binds arachidonic acid, and could play an essential role in the transfer of arachidonic acid to ALOX5. Binds to MK-886, a compound that blocks the biosynthesis of leukotrienes. Y N ECO:0000006 PubMed:2300173 PubMed:8440384 UniProtKB AAP 11/28/2012 113 3000000231 Rose P20292 241 ALOX5AP Homo sapiens 9606 Comment/Involvement in disease Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:601367 cerebrovascular accident DOID:3455 Disease susceptibility is associated with variations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:14770184 UniProtKB AAP 5/1/2013 116 3000000232 Rose P20292 241 ALOX5AP Homo sapiens 9606 Comment/Involvement in disease Note=Genetic variations in ALOX5AP may be associated with susceptibility to myocardial infarction. Involvement in myocardial infarction is however unclear: according to some authors (PubMed:14770184), a 4-SNP haplotype in ALOX5AP confers risk of myocardial infarction, while according to other (PubMed:17304054) ALOX5AP is not implicated in this condition. myocardial infarction DOID:5844 Genetic variations in ALOX5AP may be associated with susceptibility to myocardial infarction. Involvement in myocardial infarction is however unclear: according to some authors (PubMed:14770184), a 4-SNP haplotype in ALOX5AP confers risk of myocardial infarction, while according to other (PubMed:17304054) ALOX5AP is not implicated in this condition. Y Y ECO:0000311 UniProtKB AAP 5/1/2013 116 3000000233 Rose P20292 241 ALOX5AP Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 113 3000000234 Rose P20292 241 ALOX5AP Homo sapiens 9606 Comment/subcellular location Nucleus membrane;Multi-pass membrane protein nuclear membrane GO:0031965 SL-0182 Y N ECO:0000311 UniProtKB AAP 11/28/2012 113 3000000235 Katie Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Comment/function Introduces molecular oxygen into polyunsaturated fatty acids. Exact substrate is not known. Y N ECO:0000311 UniProtKB AAP 11/28/2012 104 3000000236 Katie Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Comment/Involvement in disease Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]: A non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. Most affected individuals are born with a tight, shiny, translucent covering called collodion membrane. The collodion membrane subsequently evolves into generalized scaling and intense redness of the skin. Clinical features are milder than in lamellar ichthyoses and demonstrate a greater variability in the intensity of erythema, size and type of scales. In contrast to lamellar ichthyoses, scales are usually white, fine and powdery, and palms and soles are severely affected. Patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:242100 congenital ichthyosiform erythroderma DOID:1699 Congenital ichthyosiform erythroderma SNOMEDCT:254156001 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:11773004 UniProtKB AAP 5/1/2013 107 3000000237 Katie Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Comment/pathway Lipid metabolism; leukotriene D4 biosynthesis. lipid metabolic process GO:0006629 UPA00436 Y N ECO:0000311 UniProtKB Literature curation shows that it is not involved in leukotriene synthesis. AAP 11/28/2012 104 3000000238 Katie Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in skin. skin of body UBERON:0002097 skin BTO:0001253 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 104 3000000239 Katie Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 EC 1.13.11.- Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 104 3000000240 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/function Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism in skin. Has no activity using decyl alcohol and significantly prefers the C16 and C18 alcohols. May also have 2-acylglycerol O-acyltransferase (MGAT) and acyl-CoA:retinol acyltransferase (ARAT) activities, to catalyze the synthesis of diacylglycerols and retinyl esters; however this activity is unclear in vivo. Y Y ECO:0000006 PubMed:15220349 PubMed:15671038 PubMed:16106050 UniProtKB AAP 10/31/2012 72 3000000241 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 10/31/2012 72 3000000242 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity adipose tissue UBERON:0001013 adipose tissue BTO:0001487 Y Y ECO:0000006 PubMed:16106050 Added from publication AAP 10/31/2012 72 3000000243 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas. epidermis UBERON:0001003 skin BTO:0001253 Y Y ECO:0000006 PubMed:15220349 PubMed:16106050 UniProtKB highly expressed AAP 10/31/2012 72 3000000244 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas. sebocyte BTO:0004613 Y Y ECO:0000006 PubMed:15220349 PubMed:15671038 PubMed:16106050 UniProtKB I could not find undifferentiated peripheral sebocyte. http://www.karger.com/Article/Fulltext/17860 suggests that there are three types of sebocytes. I could not find a descriptive term in CL. AAP 10/31/2012 72 3000000245 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas. sebaceous gland UBERON:0001821 sebaceous gland BTO:0001980 Y Y ECO:0000006 PubMed:15220349 PubMed:15671038 PubMed:16106050 UniProtKB replace with sebaceous gland? AAP 10/31/2012 72 3000000246 Faith/Rose Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas. eyelid UBERON:0001711 eyelid BTO:0002241 Y Y ECO:0000006 PubMed:15220349 PubMed:15671038 PubMed:16106050 UniProtKB this was in mice AAP 10/31/2012 72 3000000247 Faith/Rose Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas. preputial gland UBERON:0000359 preputial gland BTO:0001111 Y Y ECO:0000006 PubMed:15220349 PubMed:15671038 PubMed:16106050 UniProtKB this was in mice AAP 10/31/2012 72 3000000248 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas. Y N ECO:0000006 PubMed:15220349 PubMed:15671038 PubMed:16106050 UniProtKB widely expressed: "Also expressed at lower level in other tissues except pancreas" AAP 10/31/2012 72 3000000249 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:15671038 PubMed:16106050 AAP 10/31/2012 72 3000000250 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity colon UBERON:0001155 colon BTO:0000269 Y Y ECO:0000006 PubMed:15671038 AAP 10/31/2012 72 3000000251 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:15671038 AAP 10/31/2012 72 3000000252 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:15671038 AAP 10/31/2012 72 3000000253 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:15671038 PubMed:16106050 AAP 10/31/2012 72 3000000254 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000006 PubMed:15671038 PubMed:16106050 AAP 10/31/2012 72 3000000255 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity female gonad UBERON:0000992 ovary BTO:0000975 Y Y ECO:0000006 PubMed:15671038 AAP 10/31/2012 72 3000000256 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity pancreas UBERON:0001264 pancreas BTO:0000988 Y Y ECO:0000006 PubMed:15671038 PubMed:16106050 AAP 10/31/2012 72 3000000257 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity prostate gland UBERON:0002367 prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:15671038 AAP 10/31/2012 72 3000000258 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity small intestine UBERON:0002108 small intestine BTO:0000651 Y Y ECO:0000006 PubMed:15671038 AAP 10/31/2012 72 3000000259 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity spleen UBERON:0002106 spleen BTO:0001281 Y Y ECO:0000006 PubMed:15671038 AAP 10/31/2012 72 3000000260 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity testis UBERON:0000473 testis BTO:0001363 Y Y ECO:0000006 PubMed:15671038 PubMed:16106050 AAP 10/31/2012 72 3000000261 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity thymus UBERON:0002370 thymus BTO:0001374 Y Y ECO:0000006 PubMed:15671038 AAP 10/31/2012 72 3000000262 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 EC 2.3.1.75 Y Y ECO:0000311 EC number UniProtKB AAP 10/31/2012 72 3000000263 Faith Q14032 570 BAAT Homo sapiens 9606 EC 2.3.1.65 Y Y EC number UniProtKB AAP 5/1/2013 102 3000000264 Faith Q14032 570 BAAT Homo sapiens 9606 Comment/function Involved in bile acid metabolism. In liver hepatocytes catalyzes the second step in the conjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bile canaliculi. The major components of bile are cholic acid and chenodeoxycholic acid. In a first step the bile acids are converted to an acyl-CoA thioester, either in peroxisomes (primary bile acids deriving from the cholesterol pathway), or cytoplasmic at the endoplasmic reticulum (secondary bile acids). May catalyze the conjugation of primary or secondary bile acids, or both. The conjugation increases the detergent properties of bile acids in the intestine, which facilitates lipid and fat-soluble vitamin absorption. In turn, bile acids are deconjugated by bacteria in the intestine and are recycled back to the liver for reconjugation (secondary bile acids). May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fatty acids. In vitro, catalyzes the hydrolysis of long- and very long-chain saturated acyl-CoAs to the free fatty acid and coenzyme A (CoASH), and conjugates glycine to these acyl-CoAs. Y N UniProtKB AAP 5/1/2013 102 3000000265 Faith Q14032 570 BAAT Homo sapiens 9606 Comment/miscellaneous In human, more than 95% of the biliary bile acids are N-acyl amidates with glycine and taurine. In other mammalian species large differences are observed in the relative amounts of taurine- and glycine-conjugated bile acids formed in bile. Y N UniProtKB AAP 5/1/2013 102 3000000266 Faith Q14032 570 BAAT Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N UniProtKB Has cytosol in GO AAP 5/1/2013 102 3000000267 Faith Q14032 570 BAAT Homo sapiens 9606 Comment/tissue specificity Expressed in liver, gallbladder mucosa and pancreas. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:2037576 PubMed:12810727 UniProtKB AAP 5/1/2013 102 3000000268 Faith Q14032 570 BAAT Homo sapiens 9606 Comment/tissue specificity Expressed in liver, gallbladder mucosa and pancreas. mucosa of gallbladder UBERON:0005033 Y Y ECO:0000006 PubMed:2037576 PubMed:12810727 UniProtKB BRENDA has gall bladder and mucosa, but not this term. AAP 5/1/2013 102 3000000269 Faith Q14032 570 BAAT Homo sapiens 9606 Comment/tissue specificity Expressed in liver, gallbladder mucosa and pancreas. pancreas UBERON:0001264 pancreas BTO:0000988 Y Y ECO:0000006 PubMed:2037576 PubMed:12810727 UniProtKB AAP 5/1/2013 102 3000000270 Faith Q14032 570 BAAT Homo sapiens 9606 Comment/Involvement in disease Familial hypercholanemia (FHCA) [MIM:607748]: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Note=The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry. MIM:607748 The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Y Y ECO:0000006 PubMed:12704386 UniProtKB AAP 5/1/2013 102 3000000271 Mike P16152 873 CBR1 Homo sapiens 9606 Comment/function NADPH-dependent reductase with broad substrate specificity. Catalyzes the reduction of a wide variety of carbonyl compounds including quinones, prostaglandins, menadione, plus various xenobiotics. Catalyzes the reduction of the antitumor anthracyclines doxorubicin and daunorubicin to the cardiotoxic compounds doxorubicinol and daunorubicinol. Can convert prostaglandin E2 to prostaglandin F2-alpha. Can bind glutathione, which explains its higher affinity for glutathione-conjugated substrates. Catalyzes the reduction of S-nitrosoglutathione. prostaglandin metabolic process GO:0006693 Y Y ECO:0000006 PubMed:18449627 PubMed:15799708 PubMed:17912391 PubMed:18826943 UniProtKB AAP 11/28/2012 147 3000000272 Mike P16152 873 CBR1 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 147 3000000273 Mike P16152 873 CBR1 Homo sapiens 9606 EC 1.1.1.184 Y Y ECO:0000311 EC number UniProtKB This EC number refers to a wide range of substrates. AAP 11/28/2012 147 3000000274 Mike P16152 873 CBR1 Homo sapiens 9606 EC 1.1.1.197 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 147 3000000275 Mike P16152 873 CBR1 Homo sapiens 9606 EC 1.1.1.189 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 147 3000000276 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. leukocyte BTO:0000751 leukocyte CL:0000738 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3000000277 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/function Has low NADPH-dependent oxidoreductase activity towards 4-benzoylpyridine and menadione (in vitro). Y N ECO:0000006 PubMed:18493841 UniProtKB not intended to be recorded as a major function of this enzyme AAP 11/28/2012 115 3000000278 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N ECO:0000311 UniProtKB covered by GO annotation AAP 11/28/2012 115 3000000279 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3000000280 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. colon UBERON:0001155 colon BTO:0000269 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3000000281 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3000000282 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. intestine UBERON:0000160 intestine BTO:0000648 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3000000283 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3000000284 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3000000285 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3000000286 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. female gonad UBERON:0000992 ovary BTO:0000975 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3000000287 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. pancreas UBERON:0001264 pancreas BTO:0000988 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3000000288 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. prostate gland UBERON:0002367 prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3000000289 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. spleen UBERON:0002106 spleen BTO:0001281 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3000000290 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. testis UBERON:0000473 testis BTO:0001363 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3000000291 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. thymus UBERON:0002370 thymus BTO:0001374 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3000000292 Mike O75828 874 CBR3 Homo sapiens 9606 EC 1.1.1.184 Y Y ECO:0000311 EC number UniProtKB This EC code applies to a broad range of reactions. AAP 11/28/2012 115 3000000293 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. liver UBERON:0002107 liver BTO:0000759 Y N ECO:0000311 UniProtKB AAP 1/9/2013 152 3000000294 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 152 3000000295 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Comment/induction By 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD). 2,3,7,8-tetrachlorodibenzodioxine CHEBI:28119 Y N ECO:0000311 UniProtKB AAP 1/9/2013 152 3000000296 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 152 3000000297 Katie/Rose P04798 1543 CYP1A1 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-enclosed organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 152 3000000298 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Comment/tissue specificity Lung, lymphocytes and placenta. lymphocyte BTO:0000775 Y Y ECO:0000311 UniProtKB No Uberon term AAP 1/9/2013 152 3000000299 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Comment/tissue specificity Lung, lymphocytes and placenta. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 152 3000000300 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Comment/tissue specificity Lung, lymphocytes and placenta. placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 152 3000000301 Katie P04798 1543 CYP1A1 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 152 3000000302 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Most active in catalyzing 2-hydroxylation. Caffeine is metabolized primarily by cytochrome CYP1A2 in the liver through an initial N3-demethylation. Also acts in the metabolism of aflatoxin B1 and acetaminophen. Participates in the bioactivation of carcinogenic aromatic and heterocyclic amines. Catalizes the N-hydroxylation of heterocyclic amines and the O-deethylation of phenacetin. aflatoxin B1 metabolic process GO:0043390 Y Y ECO:0000006 PubMed:14725854 UniProtKB AAP 11/28/2012 140 3000000303 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Most active in catalyzing 2-hydroxylation. Caffeine is metabolized primarily by cytochrome CYP1A2 in the liver through an initial N3-demethylation. Also acts in the metabolism of aflatoxin B1 and acetaminophen. Participates in the bioactivation of carcinogenic aromatic and heterocyclic amines. Catalizes the N-hydroxylation of heterocyclic amines and the O-deethylation of phenacetin. drug metabolic process GO:0017144 Y N ECO:0000006 PubMed:14725854 UniProtKB too broad AAP 11/28/2012 140 3000000304 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Most active in catalyzing 2-hydroxylation. Caffeine is metabolized primarily by cytochrome CYP1A2 in the liver through an initial N3-demethylation. Also acts in the metabolism of aflatoxin B1 and acetaminophen. Participates in the bioactivation of carcinogenic aromatic and heterocyclic amines. Catalizes the N-hydroxylation of heterocyclic amines and the O-deethylation of phenacetin. fatty acid metabolic process GO:0006631 Y Y ECO:0000006 PubMed:14725854 UniProtKB AAP 11/28/2012 140 3000000305 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Most active in catalyzing 2-hydroxylation. Caffeine is metabolized primarily by cytochrome CYP1A2 in the liver through an initial N3-demethylation. Also acts in the metabolism of aflatoxin B1 and acetaminophen. Participates in the bioactivation of carcinogenic aromatic and heterocyclic amines. Catalizes the N-hydroxylation of heterocyclic amines and the O-deethylation of phenacetin. xenobiotic metabolic process GO:0006805 Y Y ECO:0000006 PubMed:14725854 UniProtKB AAP 11/28/2012 140 3000000306 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/induction By nicotine, omeprazole, phenobarbital, primidone and rifampicin. Y N ECO:0000311 UniProtKB Try again later during interaction curation. AAP 11/28/2012 140 3000000307 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein extrinsic to endoplasmic reticulum membrane GO:0042406 SL-0097 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 140 3000000308 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein microsome GO:0005792 SL-0165 Y N ECO:0000311 UniProtKB deprecated term; replacement term is covered by existing annotation AAP 11/28/2012 140 3000000309 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/tissue specificity Liver. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 140 3000000310 Mike P05177 1544 CYP1A2 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB This EC code covers many different reactions. AAP 11/28/2012 140 3000000311 Katie/Rose Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease Peters anomaly (PAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:604229 eye disease DOID:5614 Irido-corneo-trabecular dysgenesis SNOMEDCT:204153003 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000311 UniProtKB No HDO term, except more gener "eye disease" AAP 5/1/2013 151 3000000312 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000313 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Y N ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000314 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/function Participates in the metabolism of an as-yet-unknown biologically active molecule that is a participant in eye development. Y N ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000315 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/induction By polycyclic aromatic hydrocarbons (PAH) and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD). 2,3,7,8-tetrachlorodibenzodioxine CHEBI:28119 Y N ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000316 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/induction By polycyclic aromatic hydrocarbons (PAH) and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD). polycyclic arene CHEBI:33848 Y N ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000317 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease Primary congenital glaucoma 3A (GLC3A) [MIM:231300]: An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. MIM:231300 primary congenital glaucoma DOID:0050593 Congenital glaucoma SNOMEDCT:392371002 The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Y Y ECO:0000006 PubMed:9463332 PubMed:9497261 PubMed:10227395 PubMed:10655546 PubMed:11184479 PubMed:11527932 PubMed:11774072 PubMed:11980847 PubMed:12036985 PubMed:14640115 PubMed:14635112 PubMed:12525557 PubMed:15342693 PubMed:15475877 PubMed:15255109 PubMed:16490498 PubMed:16735994 PubMed:18470941 UniProtKB AAP 5/1/2013 151 3000000318 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease Primary open angle glaucoma (POAG) [MIM:137760]: A complex and genetically heterogeneous ocular disorder characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. The disease is asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. In some cases, POAG shows digenic inheritance involving mutations in CYP1B1 and MYOC genes. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. CYP1B1 mutations have been reported to pose a significant risk for early-onset POAG and also modify glaucoma phenotype in patients who do not carry a MYOC mutation (PubMed:15342693). MIM:137760 primary open angle glaucoma DOID:1070 Disease susceptibility is associated with variations affecting the gene represented in this entry. CYP1B1 mutations have been reported to pose a significant risk for early-onset POAG and also modify glaucoma phenotype in patients who do not carry a MYOC mutation (PubMed:15342693). Y Y ECO:0000006 PubMed:11774072 PubMed:15342693 PubMed:18470941 PubMed:16688110 PubMed:16862072 UniProtKB ICD:365.11 AAP 5/1/2013 151 3000000319 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/polymorphism Various CYP1B1 alleles are known. The sequence shown is that of allele CYP1B1*1. Y N ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000320 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000321 Katie/Rose Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-enclosed organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000322 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues. Y N ECO:0000311 UniProtKB Expressed in many tissues AAP 11/28/2012 148 3000000323 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 148 3000000324 Rose Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease Primary open angle glaucoma 1A (GLC1A) [MIM:137750]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. The disease is asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Note=The gene represented in this entry acts as a disease modifier. Digenic mutations in CYP1B1 and MYOC have been found in a family segregating both primary adult-onset and juvenile forms of open angle glaucoma (PubMed:11774072). All affected family members with mutations in both MYOC and CYP1B1 had juvenile glaucoma, whereas those with only the MYOC mutation had the adult-onset form (PubMed:11774072). MIM:137750 open-angle glaucoma DOID:1067 The gene represented in this entry acts as a disease modifier. Digenic mutations in CYP1B1 and MYOC have been found in a family segregating both primary adult-onset and juvenile forms of open angle glaucoma (PubMed:11774072). All affected family members with mutations in both MYOC and CYP1B1 had juvenile glaucoma, whereas those with only the MYOC mutation had the adult-onset form (PubMed:11774072). Y Y ECO:0000006 PubMed:11774072 UniProtKB AAP 5/1/2013 151 3000000325 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Acts as a 1,4-cineole 2-exo-monooxygenase. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:11695850 UniProtKB Tissue info not necessariy linked to PMID source. AAP 11/28/2012 143 3000000326 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/induction By phenobarbital. Y N ECO:0000311 UniProtKB Possible drug info AAP 11/28/2012 143 3000000327 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/polymorphism Genetic variations in CYP2B6 are responsible for poor metabolism of efavirenz and, therefore, susceptibility to efavirenz toxicity in the central nervous system [MIM:614546]. Efavirenz is a non-nucleoside reverse transcriptase inhibitor frequently prescribed with 2 nucleoside reverse transcriptase inhibitors as initial therapy for human immunodeficiency virus (HIV) infection. Up to half of patients treated with efavirenz, experience side effects in the central nervous system, including dizziness, insomnia, impaired concentration, somnolence, and abnormal dreams. Severe depression, aggressive behavior, and paranoid or manic reactions may also occur, depending on efavirenz concentration in the plasma. Y N ECO:0000311 UniProtKB HIV AAP 11/28/2012 143 3000000328 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 143 3000000329 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-enclosed organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB Microsome obsolete GO term AAP 11/28/2012 143 3000000330 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung and heart right ventricle. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:10768437 UniProtKB AAP 11/28/2012 143 3000000331 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung and heart right ventricle. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000006 PubMed:10768437 UniProtKB AAP 11/28/2012 143 3000000332 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung and heart right ventricle. heart right ventricle UBERON:0002080 right ventricle BTO:0001630 Y Y ECO:0000006 PubMed:10768437 UniProtKB AAP 11/28/2012 143 3000000333 Rose P20813 1555 CYP2B6 Homo sapiens 9606 EC 1.14.13.- Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 143 3000000334 Rose P33260 1562 CYP2C18 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 116 3000000335 Rose P33260 1562 CYP2C18 Homo sapiens 9606 Comment/induction P450 can be induced to high levels in liver and other tissues by various foreign compounds, including drugs, pesticides, and carcinogens. Y N ECO:0000311 UniProtKB Possible drug info AAP 11/28/2012 116 3000000336 Rose P33260 1562 CYP2C18 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 116 3000000337 Rose P33260 1562 CYP2C18 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-enclosed organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB Microsome obsolete GO term AAP 11/28/2012 116 3000000338 Rose P33260 1562 CYP2C18 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 116 3000000339 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Comment/Caution P450-254C was originally listed as a separate gene (CYP2C17). Resequencing demonstrated that it is not a separate gene, but a chimera. The 5'-portion corresponds to a partial 2C18 clone, and the 3'-portion corresponds to a partial 2C19 clone. Y N ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000340 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Comment/function Responsible for the metabolism of a number of therapeutic agents such as the anticonvulsant drug S-mephenytoin, omeprazole, proguanil, certain barbiturates, diazepam, propranolol, citalopram and imipramine. Y N ECO:0000311 UniProtKB drug info AAP 11/28/2012 125 3000000341 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Comment/induction P450 can be induced to high levels in liver and other tissues by various foreign compounds, including drugs, pesticides, and carcinogens. Y N ECO:0000311 UniProtKB Possible drug info AAP 11/28/2012 125 3000000342 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Comment/polymorphism Genetic variation in CYP2C19 is responsible for poor drug metabolism [MIM:609535]. Individuals can be characterized as either extensive metabolizers (EM) or poor metabolizers (PM). The PM phenotype is inherited in an autosomal recessive manner, with the EM phenotype comprising both homozygous dominant and heteroyzgote genotypes. There are marked interracial differences in the frequency of this polymorphism. Poor metabolizers represent 2-5% of Caucasians, 13-23% of Asian populations, and as many as 38-79% of individuals of some of the islands of Polynesia and Micronesia. Different alleles of CYP2C19 are known: CYP2C19*1A CYP2C19*1B, CYP2C19*1C, CYP2C19*2A (CYP2C19m1 or CYP2C19m1A), CYP2C19*2B (CYP2C19m1B), CYP2C19*2C (CYP2C19*21), CYP2C19*3A (CYP2C19m2), CYP2C19*3B (CYP2C19*20), CYP2C19*4 (CYP2C19m3), CYP2C19*5A (CYP2C19m4), CYP2C19*5B, CYP2C19*6, CYP2C19*7, CYP2C19*8, CYP2C19*9, CYP2C19*10, CYP2C19*11 CYP2C19*12, CYP2C19*13, CYP2C19*14 CYP2C19*15, CYP2C19*16, CYP2C19*18, CYP2C19*19. Defective CYP2C19*2 and CYP2C19*3 alleles are characterized by a splice mutation and a stop codon, respectively, and account for most of the PM alleles. The sequence shown is that of allele CYP2C19*1B. MIM:609535 Y Y ECO:0000311 UniProtKB OMIM phenotype AAP 11/28/2012 125 3000000343 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000344 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-enclosed organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB Microsome obsolete GO term AAP 11/28/2012 125 3000000345 Rose P33261 1557 CYP2C19 Homo sapiens 9606 EC 1.14.13.- Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 125 3000000346 Mike/Rose P10632 1558 CYP2C8 Homo sapiens 9606 Comment/Caution Alternative splicing has been shown to occur but the shorter forms are believed to be non-functional. Y N ECO:0000311 UniProtKB Information is present on Isoform page and IVM details. AAP 11/28/2012 150 3000000347 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. In the epoxidation of arachidonic acid it generates only 14,15- and 11,12-cis-epoxyeicosatrienoic acids. It is the principal enzyme responsible for the metabolism the anti-cancer drug paclitaxel (taxol). arachidonic acid epoxygenase activity GO:0008392 Y N ECO:0000006 PubMed:7574697 UniProtKB GO MF Use=Y AAP 11/28/2012 150 3000000348 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. In the epoxidation of arachidonic acid it generates only 14,15- and 11,12-cis-epoxyeicosatrienoic acids. It is the principal enzyme responsible for the metabolism the anti-cancer drug paclitaxel (taxol). fatty acid metabolic process GO:0006631 Y Y ECO:0000006 PubMed:7574697 UniProtKB AAP 11/28/2012 150 3000000349 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. In the epoxidation of arachidonic acid it generates only 14,15- and 11,12-cis-epoxyeicosatrienoic acids. It is the principal enzyme responsible for the metabolism the anti-cancer drug paclitaxel (taxol). paclitaxel metabolic process GO:0042616 Y Y ECO:0000006 PubMed:7574697 UniProtKB AAP 11/28/2012 150 3000000350 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. In the epoxidation of arachidonic acid it generates only 14,15- and 11,12-cis-epoxyeicosatrienoic acids. It is the principal enzyme responsible for the metabolism the anti-cancer drug paclitaxel (taxol). steroid metabolic process GO:0008202 Y Y ECO:0000006 PubMed:7574697 UniProtKB AAP 11/28/2012 150 3000000351 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. In the epoxidation of arachidonic acid it generates only 14,15- and 11,12-cis-epoxyeicosatrienoic acids. It is the principal enzyme responsible for the metabolism the anti-cancer drug paclitaxel (taxol). liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:7574697 UniProtKB AAP 11/28/2012 150 3000000352 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Comment/induction By phenobarbital. Y N ECO:0000311 UniProtKB Try again later during interaction curation. AAP 11/28/2012 150 3000000353 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein extrinsic to endoplasmic reticulum membrane GO:0042406 SL-0097 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 150 3000000354 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein microsome GO:0005792 SL-0165 Y N ECO:0000311 UniProtKB "microsome" is deprecated; "peripheral..." is already covered. AAP 11/28/2012 150 3000000355 Mike P10632 1558 CYP2C8 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 150 3000000356 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. This enzyme contributes to the wide pharmacokinetics variability of the metabolism of drugs such as S-warfarin, diclofenac, phenytoin, tolbutamide and losartan. fatty acid metabolic process GO:0006631 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 152 3000000357 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. This enzyme contributes to the wide pharmacokinetics variability of the metabolism of drugs such as S-warfarin, diclofenac, phenytoin, tolbutamide and losartan. steroid metabolic process GO:0008202 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 152 3000000358 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. This enzyme contributes to the wide pharmacokinetics variability of the metabolism of drugs such as S-warfarin, diclofenac, phenytoin, tolbutamide and losartan. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 152 3000000359 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Comment/induction By rifampicin. Y N ECO:0000311 UniProtKB Try again later during interaction curation. AAP 1/9/2013 152 3000000360 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein extrinsic to endoplasmic reticulum membrane GO:0042406 SL-0097 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 152 3000000361 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein microsome GO:0005792 SL-0165 Y N ECO:0000311 UniProtKB AAP 1/9/2013 152 3000000362 Mike P11712 1559 CYP2C9 Homo sapiens 9606 EC 1.14.13.- Y Y ECO:0000311 EC number UniProtKB This EC number describes a class of reactions. This enzyme is also annotated with other, more specific, EC numbers. AAP 1/9/2013 152 3000000363 Mike P11712 1559 CYP2C9 Homo sapiens 9606 EC 1.14.13.80 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 152 3000000364 Mike P11712 1559 CYP2C9 Homo sapiens 9606 EC 1.14.13.48 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 152 3000000365 Mike P11712 1559 CYP2C9 Homo sapiens 9606 EC 1.14.13.49 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 152 3000000366 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Comment/function Responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It is involved in the metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants. drug metabolic process GO:0017144 Y Y ECO:0000006 PubMed:16352597 UniProtKB New reference for this annotation. AAP 1/9/2013 146 3000000367 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Comment/induction By pregnancy. Y N ECO:0000311 UniProtKB Try again later during interaction curation. AAP 1/9/2013 146 3000000368 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Comment/polymorphism Genetic variations in CYP2D6 are the cause of poor drug metabolism CYP2D6-related [MIM:608902]. The CYP2D6 gene is highly polymorphic. CYP2D6 activity ranges widely within a population comprising ultrarapid (UM), extensive (EM), intermediate (IM) and poor (PM) metabolizer phenotypes. UM and PM are those most at risk for treatment failure or dose-dependent drug toxicity, respectively. Of the Caucasian populations of Europe and North America, 5%-10% are of the PM phenotype and are unable to metabolize the antihypersensitive drug debrisoquine and numerous other drugs. MIM:608902 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 146 3000000369 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein extrinsic to endoplasmic reticulum membrane GO:0042406 SL-0097 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 146 3000000370 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein microsome GO:0005792 SL-0165 Y N ECO:0000311 UniProtKB AAP 1/9/2013 146 3000000371 Mike P10635 1565 CYP2D6 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 146 3000000372 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Comment/function Metabolizes several precarcinogens, drugs, and solvents to reactive metabolites. Inactivates a number of drugs and xenobiotics and also bioactivates many xenobiotic substrates to their hepatotoxic or carcinogenic forms. xenobiotic metabolic process GO:0006805 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 144 3000000373 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Comment/induction By ethanol and isoniazid. Y N ECO:0000311 UniProtKB Try again later during interaction curation. AAP 1/9/2013 144 3000000374 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein extrinsic to endoplasmic reticulum membrane GO:0042406 SL-0097 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 144 3000000375 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein microsome GO:0005792 SL-0165 Y N ECO:0000311 UniProtKB deprecated term; replacement term is very broad. AAP 1/9/2013 144 3000000376 Mike P05181 1571 CYP2E1 Homo sapiens 9606 EC 1.14.13.- Y Y ECO:0000311 EC number UniProtKB This EC code refers to oxidoreductases; it covers a wide range of reactions. Also annotated to 1.14.13.n7 . AAP 1/9/2013 144 3000000377 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/function This enzyme metabolizes arachidonic acid predominantly via a NADPH-dependent olefin epoxidation to all four regioisomeric cis-epoxyeicosatrienoic acids. One of the predominant enzymes responsible for the epoxidation of endogenous cardiac arachidonic acid pools. Y N ECO:0000311 UniProtKB AAP 11/28/2012 121 3000000378 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 121 3000000379 Faith/Rose P51589 1573 CYP2J2 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-enclosed organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 121 3000000380 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. colon UBERON:0001155 colon BTO:0000269 Y Y ECO:0000311 UniProtKB expressed lower than in heart AAP 11/28/2012 121 3000000381 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. ileum UBERON:0002116 ileum BTO:0000620 Y Y ECO:0000311 UniProtKB expressed lower than in heart AAP 11/28/2012 121 3000000382 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. jejunum UBERON:0002115 jejunum BTO:0000657 Y Y ECO:0000311 UniProtKB expressed lower than in heart AAP 11/28/2012 121 3000000383 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000311 UniProtKB expressed lower than in heart AAP 11/28/2012 121 3000000384 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000311 UniProtKB expressed lower than in heart AAP 11/28/2012 121 3000000385 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000311 UniProtKB highly expressed AAP 11/28/2012 121 3000000386 Faith P51589 1573 CYP2J2 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 121 3000000387 Faith/Rose Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/developmental stage Expressed in fetal thymus. thymus UBERON:0002370 thymus BTO:0001374 fetus BTO:0000449 Y Y ECO:0000006 PubMed:14660610 PubMed:15752708 UniProtKB fetus; Rose removed "thymus" human developmental anatomy ontology term AAP 11/28/2012 94 3000000388 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/function Catalyzes the hydroxylation of arachidonic acid, docosahexaenoic acid and other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes. Y Y ECO:0000006 PubMed:14660610 UniProtKB AAP 11/28/2012 94 3000000389 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 94 3000000390 Faith/Rose Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/subcellular location Microsome membrane intracellular membrane-enclosed organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 94 3000000391 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with stronger expression in thymus, heart and cerebellum. cerebellum UBERON:0002037 cerebellum BTO:0000232 Y Y ECO:0000006 PubMed:14660610 PubMed:14975754 PubMed:15752708 UniProtKB stronger expression AAP 11/28/2012 94 3000000392 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with stronger expression in thymus, heart and cerebellum. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:14660610 PubMed:14975754 PubMed:15752708 UniProtKB stronger expression AAP 11/28/2012 94 3000000393 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with stronger expression in thymus, heart and cerebellum. thymus UBERON:0002370 thymus BTO:0001374 Y Y ECO:0000006 PubMed:14660610 PubMed:14975754 PubMed:15752708 UniProtKB Widely expressed; stronger expression AAP 11/28/2012 94 3000000394 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 94 3000000395 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). parathyroid gland UBERON:0001132 parathyroid gland BTO:0000997 chief cell of parathyroid gland CL:0000446 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB Best match is from "other ontology" AAP 11/28/2012 154 3000000396 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It performs a variety of oxidation reactions (e.g. caffeine 8-oxidation, omeprazole sulphoxidation, midazolam 1'-hydroxylation and midazolam 4-hydroxylation) of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Acts as a 1,8-cineole 2-exo-monooxygenase. The enzyme also hydroxylates etoposide. Y N ECO:0000006 PubMed:11159812 UniProtKB all annotations covered elsewhere. AAP 11/28/2012 154 3000000397 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/induction By glucocorticoids. Also induced to high levels in liver and other tissues by various foreign compounds, including drugs, pesticides, and carcinogens. Y N ECO:0000311 UniProtKB Try again later during interaction curation. AAP 11/28/2012 154 3000000398 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/miscellaneous Chimeric transcripts, characterized by CYP3A43 exon 1 joined at canonical splice sites to distinct sets of CYP3A4 exons, have been detected. All are possibly produced by trans-splicing. The chimeric transcripts exist in 3 different combinations: CYP3A43 exon 1 joined in frame to CYP3A4 exons 2-13, CYP3A43 exon 1 joined in frame to CYP3A4 exons 4-13 and CYP3A43 exon 1 joined in frame to CYP3A4 exon 7-13. The longest chimeric isoform (CYP3A43 exon 1 joined to CYP3A4 exons 2-13) exhibits 6-beta-hydroxylase activity, while a shorter isoform (CYP3A43 exon 1 joined to CYP3A4 exons 4-13) does not. All chimeric transcripts are expressed at very low levels in the liver (PubMed:11726664). Y N ECO:0000311 UniProtKB AAP 11/28/2012 154 3000000399 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Single-pass membrane protein integral to endoplasmic reticulum membrane GO:0030176 SL-0097 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 154 3000000400 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Single-pass membrane protein integral to membrane GO:0016021 SL-0165 Y Y ECO:0000311 UniProtKB "microsome" has been deprecated. AAP 11/28/2012 154 3000000401 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). Y N ECO:0000006 PubMed:19094056 UniProtKB According to some authors, it is not expressed in brain (PubMed:19094056); not capturing this contentious bit of negative information AAP 11/28/2012 154 3000000402 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). epithelium of stomach UBERON:0001276 gastric mucosa BTO:0001308 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB intestinal metaplasia AAP 11/28/2012 154 3000000403 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). pancreatic duct UBERON:0007329 pancreas BTO:0000988 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB Uberon term is more specific than BRENDA term. AAP 11/28/2012 154 3000000404 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). adrenal cortex UBERON:0001235 adrenal cortex BTO:0000045 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP 11/28/2012 154 3000000405 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). bile duct UBERON:0002394 bile duct BTO:0000122 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP 11/28/2012 154 3000000406 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:19359404 PubMed:18545703 UniProtKB AAP 11/28/2012 154 3000000407 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). corpus luteum UBERON:0002512 corpus luteum BTO:0000292 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP 11/28/2012 154 3000000408 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). gallbladder UBERON:0002110 gall bladder BTO:0000493 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP 11/28/2012 154 3000000409 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP 11/28/2012 154 3000000410 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). large intestine UBERON:0000059 large intestine BTO:0000706 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP 11/28/2012 154 3000000411 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP 11/28/2012 154 3000000412 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). nasal cavity mucosa UBERON:0001826 nasal mucosa BTO:0000912 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP 11/28/2012 154 3000000413 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). prostate gland UBERON:0002367 prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP 11/28/2012 154 3000000414 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). epithelium of small intestine UBERON:0001902 small intestine epithelium BTO:0001258 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP 11/28/2012 154 3000000415 Mike P08684 1576 CYP3A4 Homo sapiens 9606 EC 1.14.13.- Y Y ECO:0000311 EC number UniProtKB This EC number refers to a class of reactions. This protein has other EC numbers, too. AAP 11/28/2012 154 3000000416 Mike P08684 1576 CYP3A4 Homo sapiens 9606 EC 1.14.13.157 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 154 3000000417 Mike P08684 1576 CYP3A4 Homo sapiens 9606 EC 1.14.13.32 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 154 3000000418 Mike P08684 1576 CYP3A4 Homo sapiens 9606 EC 1.14.13.67 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 154 3000000419 Mike P08684 1576 CYP3A4 Homo sapiens 9606 EC 1.14.13.97 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 154 3000000420 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Comment/function Catalyzes the omega- and (omega-1)-hydroxylation of various fatty acids such as laurate, myristate and palmitate. Has little activity toward prostaglandins A1 and E1. Oxidizes arachidonic acid to 20-hydroxyeicosatetraenoic acid (20-HETE). Y N ECO:0000006 PubMed:15611369 UniProtKB AAP 11/28/2012 121 3000000421 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 121 3000000422 Faith/Rose Q02928 1579 CYP4A11 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-enclosed organelle GO:0043231 SL-0165 Y N ECO:0000311 UniProtKB AAP 11/28/2012 121 3000000423 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Comment/tissue specificity Kidney and liver. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 121 3000000424 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Comment/tissue specificity Kidney and liver. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 121 3000000425 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Comment/Caution Was originally (PubMed:10860550) termed CYP4A11. Y N ECO:0000311 UniProtKB AAP 11/28/2012 75 3000000426 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Comment/function Catalyzes the omega- and (omega-1)-hydroxylation of various fatty acids such as laurate and palmitate. Shows no activity towards arachidonic acid and prostaglandin A1. Lacks functional activity in the kidney and does not contribute to renal 20-hydroxyeicosatetraenoic acid (20-HETE) biosynthesis. Y Y ECO:0000006 PubMed:10860550 PubMed:15611369 UniProtKB not functional in kidney AAP 11/28/2012 75 3000000427 Mike Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N by similarity UniProtKB AAP 11/28/2012 75 3000000428 Mike Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein microsome GO:0005792 SL-0165 Y N by similarity UniProtKB AAP 11/28/2012 75 3000000429 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Comment/Sequence caution The sequence AAC27731.1 (EMBL-CDS). Reason: erroneous gene model prediction Y N ECO:0000311 UniProtKB AAP 11/28/2012 112 3000000430 Mike Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Single-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N by similarity UniProtKB AAP 11/28/2012 112 3000000431 Mike Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Single-pass membrane protein microsome GO:0005792 SL-0165 Y N by similarity UniProtKB AAP 11/28/2012 112 3000000432 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Comment/tissue specificity Expressed mainly in human liver, followed by kidney, heart, and skeletal muscle. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:10964514 UniProtKB AAP 11/28/2012 112 3000000433 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Comment/tissue specificity Expressed mainly in human liver, followed by kidney, heart, and skeletal muscle. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:10964514 UniProtKB AAP 11/28/2012 112 3000000434 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Comment/tissue specificity Expressed mainly in human liver, followed by kidney, heart, and skeletal muscle. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:10964514 UniProtKB AAP 11/28/2012 112 3000000435 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Comment/tissue specificity Expressed mainly in human liver, followed by kidney, heart, and skeletal muscle. skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:10964514 UniProtKB AAP 11/28/2012 112 3000000436 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 112 3000000437 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Y N ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000438 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000439 Faith/Rose P78329 8529 CYP4F2 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-enclosed organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000440 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Comment/tissue specificity Liver. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000441 Faith P78329 8529 CYP4F2 Homo sapiens 9606 EC 1.14.13.30 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 125 3000000442 Faith Q6NT55 126410 CYP4F22 Homo sapiens 9606 Comment/Involvement in disease Defects in CYP4F22 are the cause of ichthyosis lamellar type 3 (LI3) [MIM:604777]. LI is a non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. It is one the most severe forms of ichthyoses apparent at birth and persisting throughout life. LI patients are born encased in a tight, shiny, translucent covering called collodion membrane. Over the first weeks of life, the collodion membrane is gradually replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear infections. MIM:604777 congenital ichthyosis DOID:1695 Autosomal recessive ichthyosis SNOMEDCT:402772005 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:16436457 UniProtKB Ichthyosis congenita AAP 5/1/2013 87 3000000443 Mike Q6NT55 126410 CYP4F22 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N by similarity UniProtKB AAP 11/28/2012 84 3000000444 Mike Q6NT55 126410 CYP4F22 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein microsome GO:0005792 SL-0165 Y N by similarity UniProtKB AAP 11/28/2012 84 3000000445 Faith Q6NT55 126410 CYP4F22 Homo sapiens 9606 EC 1.14.14.- Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 84 3000000446 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Comment/tissue specificity Expressed in the polymorphonuclear leukocytes as well as leukocytes. leukocyte BTO:0000751 leukocyte CL:0000738 Y Y ECO:0000311 UniProtKB No Uberon term AAP 11/28/2012 129 3000000447 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. This enzyme requires molecular oxygen and NADPH for the omega-hydroxylation of LTB4, a potent chemoattractant for polymorphonuclear leukocytes. Y N ECO:0000311 UniProtKB AAP 11/28/2012 129 3000000448 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Comment/pathway Lipid metabolism; leukotriene B4 degradation. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 129 3000000449 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Comment/Sequence caution The sequence AAC08589.1 (EMBL-CDS). Reason: frameshift Y N ECO:0000311 UniProtKB AAP 11/28/2012 129 3000000450 Mike Q08477 4051 CYP4F3 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Single-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N by similarity UniProtKB AAP 11/28/2012 129 3000000451 Mike Q08477 4051 CYP4F3 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Single-pass membrane protein microsome GO:0005792 SL-0165 Y N by similarity UniProtKB AAP 11/28/2012 129 3000000452 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Comment/tissue specificity Expressed in the polymorphonuclear leukocytes as well as leukocytes. polymorphonuclear leukocyte BTO:0001026 Y Y ECO:0000311 UniProtKB No Uberon term; polymorphonuclear leukocyte not in CL AAP 11/28/2012 129 3000000453 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 EC 1.14.13.30 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 129 3000000454 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/function Hydroxylates arachidonic acid (20:4n-6) to (18R)-hydroxyarachidonate. Shows little activity against prostaglandin (PG) D2, PGE1, PGE2, PGF2alpha, and leukotriene B4. Catalyzes omega-2 and omega-3-hydroxylation of PGH1 and PGH2. Catalyzes epoxidation of 4,7,10,13,16,19-(Z)-docosahexaenoic acid (22:6n-3) and 7,10,13,16,19-(Z)-docosapentaenoic acid (22:5n-3) and omega-3-hydroxylation of 4,7,10,13,16-(Z)-docosapentaenoic acid (22:5n-6). Catalyzes hydroxylation of PGI2 and carbaprostacyclin. Y Y ECO:0000006 PubMed:10791960 PubMed:16112640 PubMed:15789615 UniProtKB AAP 2/6/2013 106 3000000455 Mike P98187 11283 CYP4F8 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Single-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N by similarity UniProtKB AAP 2/6/2013 106 3000000456 Faith/Rose P98187 11283 CYP4F8 Homo sapiens 9606 Comment/subcellular location Microsome membrane intracellular membrane-enclosed organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 106 3000000457 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. epidermis UBERON:0001003 epidermis BTO:0000404 psoriasis DOID:8893 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB upregulated, NOT in normal skin AAP 2/6/2013 106 3000000458 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB adult AAP 2/6/2013 106 3000000459 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. stratum basale of epidermis UBERON:0002025 stratum basale BTO:0004680 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB expanded to represent text AAP 2/6/2013 106 3000000460 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. stratum granulosum of epidermis UBERON:0002069 stratum granulosum BTO:0000361 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB expanded to represent text AAP 2/6/2013 106 3000000461 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. stratum spinosum of epidermis UBERON:0002026 stratum spinosum BTO:0000435 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB expanded to represent text AAP 2/6/2013 106 3000000462 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. corneal epithelium UBERON:0001772 corneal epithelium BTO:0000287 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB expressed in all cell layers AAP 2/6/2013 106 3000000463 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB fetal AAP 2/6/2013 106 3000000464 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. epithelium of small intestine UBERON:0001902 small intestine epithelium BTO:0001258 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB Or 'epithelial lining of small intestine' AAP 2/6/2013 106 3000000465 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. seminal vesicle epithelium UBERON:0004805 seminal vesicle BTO:0001234 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB Uberon term is more specific. AAP 2/6/2013 106 3000000466 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. vas deferens epithelium UBERON:0004806 vas deferens BTO:0001427 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB Uberon term is more specific. AAP 2/6/2013 106 3000000467 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. urinary bladder urothelium UBERON:0004645 uroepithelium BTO:0003906 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB Uroepithelium exist in BRENDA, but does have bladder-specific AAP 2/6/2013 106 3000000468 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. urothelium of ureter UBERON:0001254 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB Uroepithelium exist in BRENDA, but does have bladder-specific AAP 2/6/2013 106 3000000469 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. epithelium of stomach UBERON:0001276 gastric epithelium BTO:0000500 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB Use 'epithelium of stomach'? AAP 2/6/2013 106 3000000470 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. corneal epithelium UBERON:0001772 corneal epithelium BTO:0000287 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3000000471 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. epidermis UBERON:0001003 epidermis BTO:0000404 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3000000472 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. hair follicle UBERON:0002073 hair follicle BTO:0000554 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3000000473 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. prostate gland UBERON:0002367 prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3000000474 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. cortex of kidney UBERON:0001225 renal cortex BTO:0001166 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3000000475 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. sweat gland UBERON:0001820 sweat gland BTO:0001331 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3000000476 Faith P98187 11283 CYP4F8 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 106 3000000477 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/function Receptor for cysteinyl leukotrienes mediating bronchoconstriction of individuals with and without asthma. Stimulation by LTD4 results in the contraction and proliferation of smooth muscle, edema, eosinophil migration and damage to the mucus layer in the lung. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. The rank order of affinities for the leukotrienes is LTD4 >> LTE4 = LTC4 >> LTB4. cysteinyl leukotriene receptor activity GO:0001631 Y N ECO:0000311 UniProtKB GO MF Use=Y AAP 1/9/2013 103 3000000478 Katie/Rose Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/miscellaneous Selective antagonists, such as montelukast (Singulair), zafirlukast (Accolate) and pranlukast (Onon), are used in the treatment of the asthma crisis. Y N ECO:0000311 UniProtKB pranlukast; No ChEBI term AAP 1/9/2013 103 3000000479 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/miscellaneous Selective antagonists, such as montelukast (Singulair), zafirlukast (Accolate) and pranlukast (Onon), are used in the treatment of the asthma crisis. montelukast CHEBI:50730 Y N ECO:0000311 UniProtKB AAP 1/9/2013 103 3000000480 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/miscellaneous Selective antagonists, such as montelukast (Singulair), zafirlukast (Accolate) and pranlukast (Onon), are used in the treatment of the asthma crisis. zafirlukast CHEBI:10100 Y N ECO:0000311 UniProtKB AAP 1/9/2013 103 3000000481 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 103 3000000482 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. Y N ECO:0000311 UniProtKB Lower expression in several tissues AAP 1/9/2013 103 3000000483 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. alveolar macrophage BTO:0000802 Y Y ECO:0000311 UniProtKB No Uberon term; alveolar macrophages AAP 1/9/2013 103 3000000484 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. leukocyte BTO:0000751 Y Y ECO:0000311 UniProtKB No Uberon term; peripheral blood leukocytes AAP 1/9/2013 103 3000000485 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. Y N ECO:0000311 UniProtKB Widely expressed AAP 1/9/2013 103 3000000486 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. colon UBERON:0001155 colon BTO:0000269 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 103 3000000487 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 103 3000000488 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 103 3000000489 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. pancreas UBERON:0001264 pancreas BTO:0000988 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 103 3000000490 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 103 3000000491 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. small intestine UBERON:0002108 small intestine BTO:0000651 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 103 3000000492 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. spleen UBERON:0002106 spleen BTO:0001281 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 103 3000000493 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/function Receptor for cysteinyl leukotrienes. The response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. Stimulation by BAY u9773, a partial agonist, induces specific contractions of pulmonary veins and might also have an indirect role in the relaxation of the pulmonary vascular endothelium. The rank order of affinities for the leukotrienes is LTC4 = LTD4 >> LTE4. cysteinyl leukotriene receptor activity GO:0001631 Y N ECO:0000311 UniProtKB GO MF Use=Y AAP 1/9/2013 107 3000000494 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3000000495 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. macrophage BTO:0000801 Y Y ECO:0000311 UniProtKB No Uberon term; expressed in the interstitial macrophages AAP 1/9/2013 107 3000000496 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. leukocyte BTO:0000751 Y Y ECO:0000311 UniProtKB No Uberon term; peripheral blood leukocytes AAP 1/9/2013 107 3000000497 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. Y N ECO:0000311 UniProtKB Widely expressed AAP 1/9/2013 107 3000000498 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. adrenal gland UBERON:0002369 adrenal gland BTO:0000047 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3000000499 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3000000500 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3000000501 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3000000502 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. smooth muscle tissue UBERON:0001135 smooth muscle BTO:0001260 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3000000503 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. spleen UBERON:0002106 spleen BTO:0001281 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3000000504 Katie P16444 1800 DPEP1 Homo sapiens 9606 Comment/function Hydrolyzes a wide range of dipeptides. Implicated in the renal metabolism of glutathione and its conjugates. Converts leukotriene D4 to leukotriene E4; it may play an important role in the regulation of leukotriene activity. Y N ECO:0000311 UniProtKB AAP 2/6/2013 143 3000000505 Katie P16444 1800 DPEP1 Homo sapiens 9606 Comment/subcellular location Apical cell membrane;GPI-anchor apical plasma membrane GO:0016324 SL-0015 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 3000000506 Katie P16444 1800 DPEP1 Homo sapiens 9606 Comment/subcellular location Brush border membrane. brush border membrane GO:0031526 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 3000000507 Katie P16444 1800 DPEP1 Homo sapiens 9606 Comment/subcellular location Microvillus membrane;GPI-anchor microvillus membrane GO:0031528 SL-0294 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 3000000508 Katie P16444 1800 DPEP1 Homo sapiens 9606 EC 3.4.13.19 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 143 3000000509 Mike Q9H4A9 64174 DPEP2 Homo sapiens 9606 Comment/function Probable metalloprotease which hydrolyzes leukotriene D4 (LTD4) into leukotriene E4 (LTE4) (By similarity). Y N by similarity UniProtKB AAP 11/28/2012 83 3000000510 Katie Q9H4A9 64174 DPEP2 Homo sapiens 9606 Comment/Sequence caution The sequence AAQ88819.1 (EMBL-CDS). Reason: erroneous initiation. Translation N-terminally extended. Y N ECO:0000311 UniProtKB AAP 11/28/2012 83 3000000511 Mike Q9H4A9 64174 DPEP2 Homo sapiens 9606 Comment/subcellular location Membrane;GPI-anchor membrane GO:0016020 SL-0162 Y N by similarity UniProtKB AAP 11/28/2012 83 3000000512 Katie Q9H4A9 64174 DPEP2 Homo sapiens 9606 EC 3.4.13.19 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 83 3000000513 Faith Q9NXB9 54898 ELOVL2 Homo sapiens 9606 EC 2.3.1.199 Y Y EC number UniProtKB AAP 4/3/2013 90 3000000514 Faith Q9NXB9 54898 ELOVL2 Homo sapiens 9606 Comment/function Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. unsaturated fatty acyl-CoA CHEBI:51006 Y Y ECO:0000006 PubMed:12371743 PubMed:20937905 UniProtKB AAP 4/3/2013 90 3000000515 Faith Q9NXB9 54898 ELOVL2 Homo sapiens 9606 Comment/function Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. arachidonoyl-CoA CHEBI:15514 Y Y ECO:0000006 PubMed:12371743 PubMed:20937905 UniProtKB AAP 4/3/2013 90 3000000516 Faith Q9NXB9 54898 ELOVL2 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N PubMed:20937905 UniProtKB AAP 4/3/2013 90 3000000517 Faith Q9NXB9 54898 ELOVL2 Homo sapiens 9606 Comment/tissue specificity Liver and testis. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:20937905 UniProtKB AAP 4/3/2013 90 3000000518 Faith Q9NXB9 54898 ELOVL2 Homo sapiens 9606 Comment/tissue specificity Liver and testis. testis UBERON:0000473 testis BTO:0001363 Y Y ECO:0000006 PubMed:20937905 UniProtKB AAP 4/3/2013 90 3000000519 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 EC 2.3.1.199 Y Y EC number UniProtKB AAP 4/3/2013 94 3000000520 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/function Condensing enzyme that catalyzes the synthesis of monounsaturated and of polyunsaturated very long chain fatty acids Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. unsaturated fatty acyl-CoA CHEBI:51006 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB AAP 4/3/2013 94 3000000521 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/function Condensing enzyme that catalyzes the synthesis of monounsaturated and of polyunsaturated very long chain fatty acids Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. gamma-linolenoyl-CoA CHEBI:15508 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB AAP 4/3/2013 94 3000000522 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N PubMed:20937905 UniProtKB AAP 4/3/2013 94 3000000523 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. Y N ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB ubiquitous AAP 4/3/2013 94 3000000524 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. adrenal gland UBERON:0002369 adrenal gland BTO:0000047 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB AAP 4/3/2013 94 3000000525 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. testis UBERON:0000473 testis BTO:0001363 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB AAP 4/3/2013 94 3000000526 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. prostate gland UBERON:0002367 prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB weakly expressed AAP 4/3/2013 94 3000000527 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB weakly expressed AAP 4/3/2013 94 3000000528 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB weakly expressed AAP 4/3/2013 94 3000000529 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/Sequence caution The sequence BAC11178.1 (EMBL-CDS). Reason: erroneous initiation Y Y UniProtKB AAP 4/3/2013 94 3000000530 Rose P34913 2053 EPHX2 Homo sapiens 9606 Comment/function Bifunctional enzyme. The C-terminal domain has epoxide hydrolase activity and acts on epoxides (alkene oxides, oxiranes) and arene oxides. Plays a role in xenobiotic metabolism by degrading potentially toxic epoxides. Also determines steady-state levels of physiological mediators. The N-terminal domain has lipid phosphatase activity, with the highest activity towards threo-9,10-phosphonooxy-hydroxy-octadecanoic acid, followed by erythro-9,10-phosphonooxy-hydroxy-octadecanoic acid, 12-phosphonooxy-octadec-9Z-enoic acid, 12-phosphonooxy-octadec-9E-enoic acid, and p-nitrophenyl phospate. Y N ECO:0000006 PubMed:12574508 PubMed:12574510 UniProtKB AAP 1/9/2013 131 3000000531 Rose P34913 2053 EPHX2 Homo sapiens 9606 Comment/induction By compounds that cause peroxisome proliferation such as clofibrate, tiadenol and fenofibrate. Y N ECO:0000311 UniProtKB Possible drug info AAP 1/9/2013 131 3000000532 Rose P34913 2053 EPHX2 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N ECO:0000311 UniProtKB AAP 1/9/2013 131 3000000533 Rose P34913 2053 EPHX2 Homo sapiens 9606 Comment/subcellular location Peroxisome peroxisome GO:0005777 SL-0204 Y N ECO:0000311 UniProtKB AAP 1/9/2013 131 3000000534 Faith O60427 3992 FADS1 Homo sapiens 9606 EC 1.14.19.- Y Y EC number UniProtKB AAP 5/1/2013 108 3000000535 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/function Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the desaturation of dihomo-gamma-linoleic acid (DHGLA) (20:3n-6) and eicosatetraenoic acid (20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and eicosapentaenoic acid (EPA)(20:5n-3) respectively. linoleic acid CHEBI:17351 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 UniProtKB AAP 5/1/2013 108 3000000536 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/function Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the desaturation of dihomo-gamma-linoleic acid (DHGLA) (20:3n-6) and eicosatetraenoic acid (20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and eicosapentaenoic acid (EPA)(20:5n-3) respectively. icosatetraenoic acid CHEBI:36033 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 UniProtKB AAP 5/1/2013 108 3000000537 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/function Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the desaturation of dihomo-gamma-linoleic acid (DHGLA) (20:3n-6) and eicosatetraenoic acid (20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and eicosapentaenoic acid (EPA)(20:5n-3) respectively. alpha-linolenic acid CHEBI:27432 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 UniProtKB AAP 5/1/2013 108 3000000538 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/function Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the desaturation of dihomo-gamma-linoleic acid (DHGLA) (20:3n-6) and eicosatetraenoic acid (20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and eicosapentaenoic acid (EPA)(20:5n-3) respectively. all-cis-icosa-8,11,14-trienoic acid CHEBI:53486 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 UniProtKB AAP 5/1/2013 108 3000000539 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/Caution It is uncertain whether Met-1 or Met-58 is the initiator. Y N UniProtKB AAP 5/1/2013 108 3000000540 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/pathway Lipid metabolism; polyunsaturated fatty acid biosynthesis. lipid metabolic process GO:0006629 UPA00436 Y Y UniProtKB AAP 5/1/2013 108 3000000541 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N potential UniProtKB AAP 5/1/2013 108 3000000542 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. Y N ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB widely expressed AAP 5/1/2013 108 3000000543 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3000000544 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3000000545 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. adrenal gland UBERON:0002369 adrenal gland BTO:0000047 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3000000546 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3000000547 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3000000548 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3000000549 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3000000550 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3000000551 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. pancreas UBERON:0001264 pancreas BTO:0000988 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3000000552 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. retina UBERON:0000966 retina BTO:0001175 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3000000553 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/developmental stage Highly expressed in fetal liver and fetal brain. liver UBERON:0002107 liver BTO:0000759 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 UniProtKB AAP 5/1/2013 108 3000000554 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/Sequence caution The sequence CAC21679.1 (EMBL-CDS). Reason: erroneous initiation. Translation N-terminally extended. Y Y UniProtKB AAP 5/1/2013 108 3000000555 Faith O95864 9415 FADS2 Homo sapiens 9606 EC 1.14.19.- Y Y EC number UniProtKB AAP 5/1/2013 101 3000000556 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/function Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleic acid (GLA) (18:3n-6) and stearidonic acid (18:4n-3) respectively and other desaturation steps. Highly unsaturated fatty acids (HUFA) play pivotal roles in many biological functions. It catalizes as well the introduction of a cis double bond in palmitate to produce the mono-unsaturated fatty acid sapienate, the most abundant fatty acid in sebum. linoleic acid CHEBI:17351 Y Y ECO:0000006 PubMed:9867867 PubMed:12713571 UniProtKB AAP 5/1/2013 101 3000000557 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/function Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleic acid (GLA) (18:3n-6) and stearidonic acid (18:4n-3) respectively and other desaturation steps. Highly unsaturated fatty acids (HUFA) play pivotal roles in many biological functions. It catalizes as well the introduction of a cis double bond in palmitate to produce the mono-unsaturated fatty acid sapienate, the most abundant fatty acid in sebum. alpha-linolenic acid CHEBI:27432 Y Y ECO:0000006 PubMed:9867867 PubMed:12713571 UniProtKB AAP 5/1/2013 101 3000000558 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/pathway Lipid metabolism; polyunsaturated fatty acid biosynthesis. lipid metabolic process GO:0006629 UPA00436 Y Y UniProtKB AAP 5/1/2013 101 3000000559 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N potential UniProtKB AAP 5/1/2013 101 3000000560 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. Y N ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB widely expressed AAP 5/1/2013 101 3000000561 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB AAP 5/1/2013 101 3000000562 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB AAP 5/1/2013 101 3000000563 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB AAP 5/1/2013 101 3000000564 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB AAP 5/1/2013 101 3000000565 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. retina UBERON:0000966 retina BTO:0001175 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB AAP 5/1/2013 101 3000000566 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. breast cancer DOID:1612 Neoplasm of breast SNOMEDCT:126926005 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB lower levels in breast tumor AAP 5/1/2013 101 3000000567 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/developmental stage Found in fetal heart. heart UBERON:0000948 heart BTO:0000562 fetus BTO:0000449 Y Y UniProtKB AAP 5/1/2013 101 3000000568 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/induction Repressed by dietary highly unsaturated fatty acids. Y N ECO:0000006 PubMed:12147235 PubMed:12562861 UniProtKB AAP 5/1/2013 101 3000000569 Mike Q8TBF2 127281 FAM213B Homo sapiens 9606 Comment/function Catalyzes the reduction of prostaglandin-ethanolamide H(2) (prostamide H(2)) to prostamide F(2alpha) with NADPH as proton donor. Also able to reduce prostaglandin H(2) to prostaglandin F(2alpha) (By similarity). Y N by similarity UniProtKB AAP 2/6/2013 83 3000000570 Faith Q8TBF2 127281 FAM213B Homo sapiens 9606 Comment/subcellular location Cytosol cytosol GO:0005829 SL-0091 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 83 3000000571 Faith Q8TBF2 127281 FAM213B Homo sapiens 9606 EC 1.11.1.20 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 83 3000000572 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. kidney UBERON:0002113 kidney BTO:0000671 adult BTO:0001043 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000573 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. liver UBERON:0002107 liver BTO:0000759 adult BTO:0001043 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000574 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. kidney UBERON:0002113 kidney BTO:0000671 fetus BTO:0000449 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000575 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. liver UBERON:0002107 liver BTO:0000759 fetus BTO:0000449 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000576 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/function Initiates extracellular glutathione (GSH) breakdown, provides cells with a local cysteine supply and contributes to maintain intracellular GSH level. It is part of the cell antioxidant defense mechanism. Catalyzes the transfer of the glutamyl moiety of glutathione to amino acids and dipeptide acceptors. Alternatively, glutathione can be hydrolyzed to give Cys-Gly and gamma glutamate. Isoform 3 seems to be inactive. Y N ECO:0000006 PubMed:7689219 PubMed:20622017 UniProtKB AAP 11/28/2012 148 3000000577 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/Involvement in disease Glutathionuria (GLUTH) [MIM:231950]: Autosomal recessive disease. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:231950 amino acid metabolic disorder DOID:9252 gamma-Glutamyltransferase deficiency SNOMEDCT:78586005 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000311 UniProtKB HDO term more general than OMIM. AAP 5/1/2013 151 3000000578 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/miscellaneous Cys-454 was thought to bind the gamma-glutamyl moiety, but mutagenesis of this residue had no effect on activity. Y N ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000579 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/pathway Sulfur metabolism; glutathione metabolism. glutathione metabolic process GO:0006749 UPA00096 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000580 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/pathway Sulfur metabolism; glutathione metabolism. sulfur compound metabolic process GO:0006790 UPA00096 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000581 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/Sequence caution The sequence AAA35899.1 (EMBL-CDS). Reason: erroneous initiation Y N ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000582 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/subcellular location Membrane;Single-pass type II membrane protein membrane GO:0016020 SL-0162 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000583 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. Y N ECO:0000311 UniProtKB Isoform 3 is lung-specific AAP 11/28/2012 148 3000000584 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. Y N ECO:0000311 UniProtKB There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein AAP 11/28/2012 148 3000000585 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. intestine UBERON:0000160 intestine BTO:0000648 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000586 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000587 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. pancreas UBERON:0001264 pancreas BTO:0000988 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000588 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000589 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. stomach UBERON:0000945 stomach BTO:0001307 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3000000590 Rose P19440 2678 GGT1 Homo sapiens 9606 EC 2.3.2.2 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 148 3000000591 Rose P36269 2687 GGT5 Homo sapiens 9606 Comment/function Cleaves the gamma-glutamyl peptide bond of glutathione conjugates, but maybe not glutathione itself. Converts leukotriene C4 (LTC4) to leukotriene D4 (LTD4). Y N ECO:0000311 UniProtKB AAP 2/6/2013 124 3000000592 Rose P36269 2687 GGT5 Homo sapiens 9606 Comment/pathway Lipid metabolism; leukotriene D4 biosynthesis. leukotriene biosynthetic process GO:0019370 UPA00436 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3000000593 Rose P36269 2687 GGT5 Homo sapiens 9606 Comment/pathway Lipid metabolism; leukotriene D4 biosynthesis. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3000000594 Rose P36269 2687 GGT5 Homo sapiens 9606 Comment/Sequence caution The sequence CAB55910.1 (EMBL-CDS). Reason: frameshift Y N ECO:0000311 UniProtKB AAP 2/6/2013 124 3000000595 Mike P36269 2687 GGT5 Homo sapiens 9606 Comment/subcellular location Membrane;Single-pass type II membrane protein membrane GO:0016020 SL-0162 Y N by similarity UniProtKB AAP 2/6/2013 124 3000000596 Rose P36269 2687 GGT5 Homo sapiens 9606 EC 2.3.2.2 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 124 3000000597 Mike Q6P531 124975 GGT6 Homo sapiens 9606 Comment/function Cleaves glutathione conjugates (By similarity). Y N by similarity UniProtKB AAP 11/28/2012 69 3000000598 Faith Q6P531 124975 GGT6 Homo sapiens 9606 Comment/pathway Sulfur metabolism; glutathione metabolism. sulfur compound metabolic process GO:0006790 UPA00096 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 69 3000000599 Mike Q6P531 124975 GGT6 Homo sapiens 9606 Comment/subcellular location Membrane;Single-pass type II membrane protein membrane GO:0016020 SL-0162 Y N by similarity UniProtKB AAP 11/28/2012 69 3000000600 Faith Q6P531 124975 GGT6 Homo sapiens 9606 EC 2.3.2.2 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 69 3000000601 Mike Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/function Cleaves glutathione conjugates (By similarity). Y N by similarity UniProtKB AAP 1/9/2013 101 3000000602 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/pathway Sulfur metabolism; glutathione metabolism. glutathione metabolic process GO:0006749 UPA00096 Y Y ECO:0000311 PubMed:14660610 PubMed:15752708 UniProtKB AAP 1/9/2013 101 3000000603 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/pathway Sulfur metabolism; glutathione metabolism. sulfur compound metabolic process GO:0006790 UPA00096 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3000000604 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/Sequence caution The sequence BAC03394.1 (EMBL-CDS). Reason: erroneous initiation Y N ECO:0000311 UniProtKB AAP 1/9/2013 101 3000000605 Mike Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/subcellular location Membrane;Single-pass type II membrane protein membrane GO:0016020 SL-0162 Y N by similarity UniProtKB AAP 1/9/2013 101 3000000606 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. Y N ECO:0000311 UniProtKB but at low level AAP 1/9/2013 101 3000000607 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. Y N ECO:0000311 UniProtKB except in the airway epithelial cells AAP 1/9/2013 101 3000000608 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. Y N ECO:0000311 UniProtKB Widely expressed AAP 1/9/2013 101 3000000609 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3000000610 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3000000611 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3000000612 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3000000613 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3000000614 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. spleen UBERON:0002106 spleen BTO:0001281 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3000000615 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. testis UBERON:0000473 testis BTO:0001363 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3000000616 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. trachea UBERON:0003126 trachea BTO:0001388 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3000000617 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 EC 2.3.2.2 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 101 3000000618 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, kidney, heart and umbilical vein endothelial cells. Highest level in brain. umbilical vein endothelial cell BTO:0004296 endothelial cell of umbilical vein CL:0002618 Y Y ECO:0000006 PubMed:16990797 UniProtKB AAP 4/3/2013 104 3000000619 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/function Dual specificity receptor for uracil nucleotides and cysteinyl leukotrienes (CysLTs). Signals through G(i) and inhibition of adenylyl cyclase. May mediate brain damage by nucleotides and CysLTs following ischemia. Y N ECO:0000006 PubMed:16990797 UniProtKB AAP 4/3/2013 104 3000000620 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB AAP 4/3/2013 104 3000000621 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, kidney, heart and umbilical vein endothelial cells. Highest level in brain. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:16990797 UniProtKB AAP 4/3/2013 104 3000000622 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, kidney, heart and umbilical vein endothelial cells. Highest level in brain. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:16990797 UniProtKB AAP 4/3/2013 104 3000000623 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, kidney, heart and umbilical vein endothelial cells. Highest level in brain. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:16990797 UniProtKB AAP 4/3/2013 104 3000000624 Mike P07203 2876 GPX1 Homo sapiens 9606 Comment/function Protects the hemoglobin in erythrocytes from oxidative breakdown. Y N ECO:0000311 UniProtKB AAP 2/6/2013 155 3000000625 Mike P07203 2876 GPX1 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N ECO:0000311 UniProtKB covered by existing GO annotation AAP 2/6/2013 155 3000000626 Mike P07203 2876 GPX1 Homo sapiens 9606 EC 1.11.1.9 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 155 3000000627 Rose P18283 2877 GPX2 Homo sapiens 9606 Comment/function Could play a major role in protecting mammals from the toxicity of ingested organic hydroperoxides. Tert-butyl hydroperoxide, cumene hydroperoxide and linoleic acid hydroperoxide but not phosphatidycholine hydroperoxide, can act as acceptors. Y N ECO:0000311 UniProtKB AAP 2/6/2013 127 3000000628 Rose P18283 2877 GPX2 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N ECO:0000311 UniProtKB AAP 2/6/2013 127 3000000629 Rose P18283 2877 GPX2 Homo sapiens 9606 Comment/subcellular location Mainly cytoplasmic. Y N ECO:0000311 UniProtKB AAP 2/6/2013 127 3000000630 Rose P18283 2877 GPX2 Homo sapiens 9606 Comment/tissue specificity Mostly in liver and gastrointestinal tract, not found in heart or kidney. Y N ECO:0000311 UniProtKB not found in heart or kidney AAP 2/6/2013 127 3000000631 Rose P18283 2877 GPX2 Homo sapiens 9606 Comment/tissue specificity Mostly in liver and gastrointestinal tract, not found in heart or kidney. digestive tract UBERON:0001555 gastrointestinal tract BTO:0000511 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 127 3000000632 Rose P18283 2877 GPX2 Homo sapiens 9606 Comment/tissue specificity Mostly in liver and gastrointestinal tract, not found in heart or kidney. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 127 3000000633 Rose P18283 2877 GPX2 Homo sapiens 9606 EC 1.11.1.9 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 127 3000000634 Rose P22352 2878 GPX3 Homo sapiens 9606 Comment/function Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione. Y N ECO:0000311 UniProtKB AAP 1/9/2013 138 3000000635 Rose P22352 2878 GPX3 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y N ECO:0000311 UniProtKB AAP 1/9/2013 138 3000000636 Rose P22352 2878 GPX3 Homo sapiens 9606 Comment/tissue specificity Secreted in plasma. blood plasma UBERON:0001969 blood plasma BTO:0000131 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 138 3000000637 Rose P22352 2878 GPX3 Homo sapiens 9606 EC 1.11.1.9 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 138 3000000638 Mike P36969 2879 GPX4 Homo sapiens 9606 Comment/function Protects cells against membrane lipid peroxidation and cell death. Required for normal sperm development and male fertility. Could play a major role in protecting mammals from the toxicity of ingested lipid hydroperoxides. Essential for embryonic development. Protects from radiation and oxidative damage (By similarity). Y N by similarity UniProtKB AAP 11/28/2012 137 3000000639 Katie P36969 2879 GPX4 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 137 3000000640 Katie P36969 2879 GPX4 Homo sapiens 9606 Comment/tissue specificity Present primarily in testis. testis UBERON:0000473 testis BTO:0001363 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 137 3000000641 Katie P36969 2879 GPX4 Homo sapiens 9606 EC 1.11.1.12 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 137 3000000642 Mike O75715 2880 GPX5 Homo sapiens 9606 Comment/function Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione. May constitute a glutathione peroxidase-like protective system against peroxide damage in sperm membrane lipids. Y N ECO:0000311 UniProtKB covered by EC code AAP 11/28/2012 110 3000000643 Mike O75715 2880 GPX5 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 110 3000000644 Mike O75715 2880 GPX5 Homo sapiens 9606 Comment/tissue specificity Epididymis. epididymis UBERON:0001301 epididymis BTO:0000408 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 110 3000000645 Mike O75715 2880 GPX5 Homo sapiens 9606 EC 1.11.1.9 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 110 3000000646 Faith P59796 257202 GPX6 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 84 3000000647 Faith P59796 257202 GPX6 Homo sapiens 9606 Comment/tissue specificity Expressed in olfactory epithelium and embryos. embryo UBERON:0000922 embryo BTO:0000379 Y Y ECO:0000006 PubMed:12775843 UniProtKB AAP 2/6/2013 84 3000000648 Faith P59796 257202 GPX6 Homo sapiens 9606 Comment/tissue specificity Expressed in olfactory epithelium and embryos. olfactory epithelium UBERON:0001997 olfactory epithelium BTO:0000108 Y Y ECO:0000006 PubMed:12775843 UniProtKB AAP 2/6/2013 84 3000000649 Faith P59796 257202 GPX6 Homo sapiens 9606 EC 1.11.1.9 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 84 3000000650 Faith Q96SL4 2882 GPX7 Homo sapiens 9606 Comment/function It protects esophageal epithelia from hydrogen peroxide-induced oxidative stress. It suppresses acidic bile acid-induced reactive oxigen species (ROS) and protects against oxidative DNA damage and double-strand breaks. Y N ECO:0000006 PubMed:22157330 UniProtKB AAP 11/28/2012 105 3000000651 Faith Q96SL4 2882 GPX7 Homo sapiens 9606 Comment/Involvement in disease Barrett esophagus (BE) [MIM:614266]: A condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes. Note=The disease is caused by mutations affecting the gene represented in this entry. The pathologic mechanisms leading to Barrett esophagus involve GPX7 dysfunction that results in higher levels of hydrogen peroxide and ROS-induced oxidative stress and DNA damage in esophageal cells. MIM:614266 Barrett's esophagus DOID:9206 Barrett's esophagus SNOMEDCT:302914006 The disease is caused by mutations affecting the gene represented in this entry. The pathologic mechanisms leading to Barrett esophagus involve GPX7 dysfunction that results in higher levels of hydrogen peroxide and ROS-induced oxidative stress and DNA damage in esophageal cells. Y Y ECO:0000006 PubMed:22157330 UniProtKB Barrett's esophagus AAP 5/1/2013 108 3000000652 Faith Q96SL4 2882 GPX7 Homo sapiens 9606 Comment/Sequence caution The sequence AAC72961.1 (EMBL-CDS). Reason: erroneous translation. Wrong choice of frame. Y N ECO:0000311 UniProtKB AAP 11/28/2012 105 3000000653 Faith Q96SL4 2882 GPX7 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 105 3000000654 Faith Q96SL4 2882 GPX7 Homo sapiens 9606 Comment/tissue specificity Expressed in esophageal epithelial cells; expression is up-regulated after exposure to acidic bile acids. Y N ECO:0000006 PubMed:22157330 UniProtKB expression is up-regulated after exposure to acidic bile acids AAP 11/28/2012 105 3000000655 Faith Q96SL4 2882 GPX7 Homo sapiens 9606 Comment/tissue specificity Expressed in esophageal epithelial cells; expression is up-regulated after exposure to acidic bile acids. epithelium of esophagus UBERON:0001976 esophageal epithelium BTO:0001578 Y Y ECO:0000006 PubMed:22157330 UniProtKB AAP 11/28/2012 105 3000000656 Faith Q96SL4 2882 GPX7 Homo sapiens 9606 EC 1.11.1.9 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 105 3000000657 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/function Prostaglandin inactivation. Contributes to the regulation of events that are under the control of prostaglandin levels. Catalyzes the NAD-dependent dehydrogenation of lipoxin A4 to form 15-oxo-lipoxin A4. Inhibits in vivo proliferation of colon cancer cells. Y N ECO:0000006 PubMed:10837478 PubMed:15574495 PubMed:16828555 UniProtKB AAP 2/6/2013 135 3000000658 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/induction Down-regulated by cortisol, dexamethasone and betamethasone. Down-regulated in colon cancer. Up-regulated by TGFB1. colon cancer DOID:219 Y N ECO:0000006 PubMed:15574495 PubMed:12788907 UniProtKB AAP 2/6/2013 135 3000000659 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/induction Down-regulated by cortisol, dexamethasone and betamethasone. Down-regulated in colon cancer. Up-regulated by TGFB1. betamethasone CHEBI:3077 Y N ECO:0000006 PubMed:15574495 PubMed:12788907 UniProtKB AAP 2/6/2013 135 3000000660 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/induction Down-regulated by cortisol, dexamethasone and betamethasone. Down-regulated in colon cancer. Up-regulated by TGFB1. cortisol CHEBI:17650 Y N ECO:0000006 PubMed:15574495 PubMed:12788907 UniProtKB AAP 2/6/2013 135 3000000661 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/induction Down-regulated by cortisol, dexamethasone and betamethasone. Down-regulated in colon cancer. Up-regulated by TGFB1. dexamethasone CHEBI:41879 Y N ECO:0000006 PubMed:15574495 PubMed:12788907 UniProtKB AAP 2/6/2013 135 3000000662 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/induction Down-regulated by cortisol, dexamethasone and betamethasone. Down-regulated in colon cancer. Up-regulated by TGFB1. Y N ECO:0000006 PubMed:15574495 PubMed:12788907 UniProtKB AAP 2/6/2013 135 3000000663 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/Involvement in disease Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 (PHOAR1) [MIM:259100]: A disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:259100 primary hypertrophic osteoarthropathy DOID:14283 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:18500342 UniProtKB AAP 5/1/2013 138 3000000664 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/Involvement in disease Cranioosteoarthropathy (COA) [MIM:259100]: A form of osterarthropathy characterized by swelling of the joints, digital clubbing, hyperhidrosis, delayed closure of the fontanels, periostosis, and variable patent ductus arteriosus. Pachydermia is not a prominent feature. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:259100 primary hypertrophic osteoarthropathy DOID:14283 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:18500342 UniProtKB AAP 5/1/2013 138 3000000665 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Comment/Involvement in disease Isolated congenital nail clubbing (ICNC) [MIM:119900]: A rare genodermatosis characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx. It is usually symmetrical and bilateral (in some cases unilateral). In nail clubbing usually the distal end of the nail matrix is relatively high compared to the proximal end, while the nail plate is complete but its dimensions and diameter more or less vary in comparison to normal. There may be different fingers and toes involved to varying degrees. Some fingers or toes are spared, but the thumbs are almost always involved. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:119900 skin disease DOID:37 Hereditary clubbing SNOMEDCT:239055005 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:18805827 UniProtKB No HDO term, except genodermatosis = skin disease (best match in HDO) AAP 5/1/2013 138 3000000666 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N ECO:0000311 UniProtKB AAP 2/6/2013 135 3000000667 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/tissue specificity Detected in colon epithelium (at protein level). colonic epithelium UBERON:0000397 colon BTO:0000269 Y Y ECO:0000006 PubMed:15574495 UniProtKB AAP 2/6/2013 135 3000000668 Katie P15428 3248 HPGD Homo sapiens 9606 EC 1.1.1.141 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 135 3000000669 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. macrophage BTO:0000801 macrophage CL:0000235 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3000000670 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. liver UBERON:0002107 liver BTO:0000759 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB Note that the liver is specified to be fetal, hence the use of the "fetal organ" term. AAP 2/6/2013 124 3000000671 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/developmental stage Highest levels in immature megakaryocytic cells. Disappears after final differentiation to platelets. Y N ECO:0000006 PubMed:9425264 UniProtKB "megakaryocytes" covered below; unclear how to map "immature." AAP 2/6/2013 124 3000000672 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/function Bifunctional enzyme which catalyzes both the conversion of PGH2 to PGD2, a prostaglandin involved in smooth muscle contraction/relaxation and a potent inhibitor of platelet aggregation, and the conjugation of glutathione with a wide range of aryl halides and organic isothiocyanates. Also exhibits low glutathione-peroxidase activity towards cumene hydroperoxide. Y N ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 PubMed:12627223 PubMed:15113825 PubMed:16547010 PubMed:19939518 UniProtKB PGD synthesis is covered in GO annotations; remaining info not mappable. AAP 2/6/2013 124 3000000673 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/induction By 12-O-tetradecanoylphorbol-13-acetate (TPA). Y N ECO:0000006 PubMed:9425264 PubMed:12627223 UniProtKB Try again later during interaction curation. AAP 2/6/2013 124 3000000674 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N ECO:0000311 UniProtKB covered in GO annotation AAP 2/6/2013 124 3000000675 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. adipose tissue UBERON:0001013 adipose tissue BTO:0001487 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3000000676 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. bone marrow UBERON:0002371 bone marrow BTO:0000141 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3000000677 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3000000678 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3000000679 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. lymph node UBERON:0000029 lymph node BTO:0000784 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3000000680 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. megakaryocyte BTO:0000843 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3000000681 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3000000682 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. appendix UBERON:0001154 vermiform appendix BTO:0000084 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3000000683 Mike O60760 27306 HPGDS Homo sapiens 9606 EC 5.3.99.2 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 124 3000000684 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/subcellular location Secreted into blood plasma. Produced in astrocytes and secreted into cerebral spinal fluid (CSF). astrocyte CL:0000127 Y Y ECO:0000311 UniProtKB remaining annotations covered below. AAP 11/28/2012 141 3000000685 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/function Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs). The cholesterol ester is then transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines. Also produced in the brain by primary astrocytes, and esterifies free cholesterol on nascent APOE-containing lipoproteins secreted from glia and influences cerebral spinal fluid (CSF) APOE- and APOA1 levels. Together with APOE and the cholesterol transporter ABCA1, plays a key role in the maturation of glial-derived, nascent lipoproteins. Required for remodeling high-density lipoprotein particles into their spherical forms. Y N ECO:0000006 PubMed:10722751 UniProtKB not sure how to capture effect on regulation of ApE and ApoA1 levels. all other properties covered elsewhere. AAP 11/28/2012 141 3000000686 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]: A disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: complete LCAT deficiency and fish-eye disease. LCATD is generally referred to the complete form which is associated with absence of both alpha and beta LCAT activities resulting in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:245900 Norum disease DOID:1391 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:2370048 PubMed:1681161 PubMed:1859405 PubMed:8432868 PubMed:8318557 PubMed:7607641 PubMed:7711728 PubMed:8807342 PubMed:9007616 PubMed:9741700 PubMed:11423760 PubMed:12957688 PubMed:15994445 PubMed:16051254 PubMed:16216249 UniProtKB AAP 5/1/2013 144 3000000687 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease Fish-eye disease (FED) [MIM:136120]: A disorder of lipoprotein metabolism due to partial lecithin-cholesterol acyltransferase deficiency that affects only alpha-LCAT activity. FED is characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea ('fish-eye'). Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:136120 corneal dystrophy DOID:2566 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:15994445 PubMed:1571050 PubMed:1737840 PubMed:1516702 PubMed:8620346 PubMed:9261271 PubMed:21901787 UniProtKB The OMIM term is more specific than the HDO term. AAP 5/1/2013 144 3000000688 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/miscellaneous Levels of LCAT activity correlates inversely with leptin levels as well as with obesity for a wide range of BMI values. Y N ECO:0000311 UniProtKB AAP 11/28/2012 141 3000000689 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 141 3000000690 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/tissue specificity Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. blood plasma UBERON:0001969 blood plasma BTO:0000131 Y Y ECO:0000006 PubMed:3797244 PubMed:10222237 UniProtKB AAP 11/28/2012 141 3000000691 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/tissue specificity Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:3797244 PubMed:10222237 UniProtKB AAP 11/28/2012 141 3000000692 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/tissue specificity Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. cerebrospinal fluid UBERON:0001359 cerebrospinal fluid BTO:0000237 Y Y ECO:0000006 PubMed:3797244 PubMed:10222237 UniProtKB AAP 11/28/2012 141 3000000693 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/tissue specificity Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. Hep-G2 cell BTO:0000599 Y Y ECO:0000006 PubMed:3797244 PubMed:10222237 UniProtKB AAP 11/28/2012 141 3000000694 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/tissue specificity Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:3797244 PubMed:10222237 UniProtKB AAP 11/28/2012 141 3000000695 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/tissue specificity Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. testis UBERON:0000473 testis BTO:0001363 Y Y ECO:0000006 PubMed:3797244 PubMed:10222237 UniProtKB AAP 11/28/2012 141 3000000696 Mike P04180 3931 LCAT Homo sapiens 9606 EC 2.3.1.43 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 141 3000000697 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/function Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor-mediated endocytosis of lipoprotein particles. Important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation. Y N ECO:0000311 UniProtKB AAP 11/28/2012 128 3000000698 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/Involvement in disease Cholesteryl ester storage disease (CESD) [MIM:278000]: A mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:278000 Wolman disease DOID:14497 Wolman's disease SNOMEDCT:82500001 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:8146180 PubMed:9633819 UniProtKB AAP 5/1/2013 131 3000000699 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/Involvement in disease Wolman disease (WOD) [MIM:278000]: A severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WD occurs in infancy and is nearly always fatal before the age of 1 year. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:278000 Wolman disease DOID:14497 Wolman's disease SNOMEDCT:82500001 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000311 UniProtKB AAP 5/1/2013 131 3000000700 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/subcellular location Lysosome lysosome GO:0005764 SL-0158 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 128 3000000701 Rose P38571 3988 LIPA Homo sapiens 9606 EC 3.1.1.13 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 128 3000000702 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/function In adipose tissue and heart, it primarily hydrolyzes stored triglycerides to free fatty acids, while in steroidogenic tissues, it principally converts cholesteryl esters to free cholesterol for steroid hormone production. Y N ECO:0000311 UniProtKB tissue information extracted into other rows AAP 11/28/2012 118 3000000703 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/pathway Glycerolipid metabolism; triacylglycerol degradation. glycerolipid metabolic process GO:0046486 UPA00230 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 118 3000000704 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/subcellular location Caveola caveola GO:0005901 SL-0035 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 118 3000000705 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/subcellular location Cytosol cytosol GO:0005829 SL-0091 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 118 3000000706 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/subcellular location Cell membrane plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 118 3000000707 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/subcellular location Found in the high-density caveolae. Translocates to the cytoplasm from the caveolae upon insulin stimulation. Y Y ECO:0000311 UniProtKB AAP 11/28/2012 118 3000000708 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/tissue specificity adipose tissue UBERON:0001013 adipose tissue BTO:0001487 diabetes mellitus DOID:9351 Y Y ECO:0000311 UniProtKB Info extracted from Comment/fuction AAP 11/28/2012 118 3000000709 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/tissue specificity heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000311 UniProtKB Info extracted from Comment/fuction AAP 11/28/2012 118 3000000710 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/tissue specificity Y N ECO:0000311 UniProtKB steroidogenic tissues; Info extracted from Comment/fuction. I'm not sure how to represent this AAP 11/28/2012 118 3000000711 Faith Q05469 3991 LIPE Homo sapiens 9606 EC 3.1.1.79 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 118 3000000712 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/function Has phospholipase and triglyceride lipase activities. Hydrolyzes high density lipoproteins (HDL) more efficiently than other lipoproteins. Binds heparin. Y N ECO:0000311 UniProtKB AAP 11/28/2012 117 3000000713 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/miscellaneous It is termed endothelial lipase due to the fact that it is synthesized in endothelial cells, a characteristic that distinguishes it from other members of the family. However, this protein is also expressed in other cell types. Y N ECO:0000311 UniProtKB AAP 11/28/2012 117 3000000714 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 117 3000000715 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. coronary artery endothelial cell BTO:0004096 Y Y ECO:0000311 UniProtKB No Uberon term AAP 11/28/2012 117 3000000716 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. hepatocyte BTO:0000575 Y Y ECO:0000311 UniProtKB No Uberon term AAP 11/28/2012 117 3000000717 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. osteosarcoma cell line BTO:0000407 Y Y ECO:0000311 UniProtKB No Uberon term AAP 11/28/2012 117 3000000718 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. umbilical vein endothelial cell BTO:0004296 Y Y ECO:0000311 UniProtKB No Uberon term AAP 11/28/2012 117 3000000719 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. Y N ECO:0000311 UniProtKB Not detected in heart, brain and muscle AAP 11/28/2012 117 3000000720 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. Y N ECO:0000311 UniProtKB Not detected in heart, brain and muscle AAP 11/28/2012 117 3000000721 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. Y N ECO:0000311 UniProtKB Not detected in heart, brain and muscle AAP 11/28/2012 117 3000000722 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. corpus luteum UBERON:0002512 corpus luteum BTO:0000292 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 117 3000000723 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 117 3000000724 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 117 3000000725 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 117 3000000726 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 117 3000000727 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. testis UBERON:0000473 testis BTO:0001363 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 117 3000000728 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. thyroid gland UBERON:0002046 thyroid gland BTO:0001379 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 117 3000000729 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 EC 3.1.1.3 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 117 3000000730 Faith Q8NF37 79888 LPCAT1 Homo sapiens 9606 Comment/function Possesses both acyltransferase and acetyltransferase activities. Activity is calcium-independent. Mediates the conversion of 1-acyl-sn-glycero-3-phosphocholine (LPC) into phosphatidylcholine (PC). Displays a clear preference for saturated fatty acyl-CoAs, and 1-myristoyl or 1-palmitoyl LPC as acyl donors and acceptors, respectively. May synthesize phosphatidylcholine in pulmonary surfactant, thereby playing a pivotal role in respiratory physiology. Y Y ECO:0000006 PubMed:16864775 UniProtKB AAP 1/9/2013 86 3000000731 Faith Q8NF37 79888 LPCAT1 Homo sapiens 9606 Comment/pathway Lipid metabolism; phospholipid metabolism. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 86 3000000732 Faith Q8NF37 79888 LPCAT1 Homo sapiens 9606 Comment/Sequence caution The sequence BAB14065.1 (EMBL-CDS). Reason: erroneous initiation Y N ECO:0000311 UniProtKB AAP 1/9/2013 86 3000000733 Mike Q8NF37 79888 LPCAT1 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Single-pass type II membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N by similarity UniProtKB AAP 1/9/2013 86 3000000734 Mike Q8NF37 79888 LPCAT1 Homo sapiens 9606 Comment/subcellular location Golgi apparatus membrane;Single-pass type II membrane protein Golgi membrane GO:0000139 SL-0134 Y N by similarity UniProtKB AAP 1/9/2013 86 3000000735 Faith Q8NF37 79888 LPCAT1 Homo sapiens 9606 EC 2.3.1.- Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 86 3000000736 Mike Q7L5N7 54947 LPCAT2 Homo sapiens 9606 Comment/function Possesses both acyltransferase and acetyltransferase activities. Activity is calcium-dependent. Involved in platelet-activating factor (PAF) biosynthesis by catalyzing the conversion of the PAF precursor, 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF) into 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine (PAF). Also converts lyso-PAF to 1-alkyl-phosphatidylcholine (PC), a major component of cell membranes and a PAF precursor. Under resting conditions, acyltransferase activity is preferred. Upon acute inflammatory stimulus, acetyltransferase activity is enhanced and PAF synthesis increases (By similarity). Y N by similarity UniProtKB AAP 1/9/2013 84 3000000737 Faith Q7L5N7 54947 LPCAT2 Homo sapiens 9606 Comment/pathway Lipid metabolism; phospholipid metabolism. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 84 3000000738 Faith Q7L5N7 54947 LPCAT2 Homo sapiens 9606 Comment/Sequence caution The sequence CAE46034.1 (EMBL-CDS). Reason: frameshift Y N ECO:0000311 UniProtKB AAP 1/9/2013 84 3000000739 Mike Q7L5N7 54947 LPCAT2 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Single-pass type II membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N by similarity UniProtKB AAP 1/9/2013 84 3000000740 Mike Q7L5N7 54947 LPCAT2 Homo sapiens 9606 Comment/subcellular location Golgi apparatus membrane;Single-pass type II membrane protein Golgi membrane GO:0000139 SL-0134 Y N by similarity UniProtKB AAP 1/9/2013 84 3000000741 Faith Q7L5N7 54947 LPCAT2 Homo sapiens 9606 EC 2.3.1.- Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 84 3000000742 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. neutrophil BTO:0000130 neutrophil CL:0000775 Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB No Uberon term AAP 1/9/2013 82 3000000743 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/function Acyltransferase which mediates the conversion of lysophosphatidylcholine (1-acyl-sn-glycero-3-phosphocholine or LPC) into phosphatidylcholine (1,2-diacyl-sn-glycero-3-phosphocholine or PC) (LPCAT activity). Catalyzes also the conversion of lysophosphatidylserine (1-acyl-2-hydroxy-sn-glycero-3-phospho-L-serine or LPS) into phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L-serine or PS) (LPSAT activity). Has also weak lysophosphatidylethanolamine acyltransferase activity (LPEAT activity). Favors polyunsaturated fatty acyl-CoAs as acyl donors compared to saturated fatty acyl-CoAs. Seems to be the major enzyme contributing to LPCAT activity in the liver. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB AAP 1/9/2013 82 3000000744 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/pathway Lipid metabolism; phospholipid metabolism. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 82 3000000745 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/Sequence caution The sequence BAG37917.1 (EMBL-CDS). Reason: erroneous initiation. Translation N-terminally extended. Y N ECO:0000311 UniProtKB AAP 1/9/2013 82 3000000746 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 82 3000000747 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. adipose tissue UBERON:0001013 adipose tissue BTO:0001487 Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB highly expressed AAP 1/9/2013 82 3000000748 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB highly expressed AAP 1/9/2013 82 3000000749 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. pancreas UBERON:0001264 pancreas BTO:0000988 Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB highly expressed AAP 1/9/2013 82 3000000750 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB very low expression AAP 1/9/2013 82 3000000751 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB very low expression AAP 1/9/2013 82 3000000752 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 EC 2.3.1.- Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 82 3000000753 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/function Epoxide hydrolase that catalyzes the final step in the biosynthesis of the proinflammatory mediator leukotriene B4. Has also aminopeptidase activity. leukotriene-A4 hydrolase activity GO:0004463 Y N ECO:0000006 PubMed:1897988 PubMed:1975494 PubMed:2244921 PubMed:12207002 PubMed:11917124 PubMed:15078870 PubMed:18804029 UniProtKB GO MF Use=Y; Provides additional refererences beyond what is found in the GO annotation. AAP 2/6/2013 161 3000000754 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/pathway Lipid metabolism; leukotriene B4 biosynthesis. lipid metabolic process GO:0006629 UPA00436 Y N ECO:0000311 UniProtKB covered by GO annotation AAP 2/6/2013 161 3000000755 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N ECO:0000311 UniProtKB covered by GO annotation AAP 2/6/2013 161 3000000756 Mike P09960 4048 LTA4H Homo sapiens 9606 EC 3.3.2.6 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 161 3000000757 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/function Receptor for extracellular ATP > UTP and ADP. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. May be the cardiac P2Y receptor involved in the regulation of cardiac muscle contraction through modulation of L-type calcium currents. Is a receptor for leukotriene B4, a potent chemoattractant involved in inflammation and immune response. Y Y ECO:0000311 UniProtKB AAP 1/9/2013 123 3000000758 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/Sequence caution The sequence AAB16747.1 (EMBL-CDS). Reason: erroneous initiation Y N ECO:0000311 UniProtKB AAP 1/9/2013 123 3000000759 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 123 3000000760 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, skeletal muscle and at lower levels in brain and liver. High level of expression in lymphoid tissues. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000311 UniProtKB Expressed at lower levels in the brain and liver AAP 1/9/2013 123 3000000761 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, skeletal muscle and at lower levels in brain and liver. High level of expression in lymphoid tissues. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000311 UniProtKB Expressed at lower levels in the brain and liver AAP 1/9/2013 123 3000000762 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, skeletal muscle and at lower levels in brain and liver. High level of expression in lymphoid tissues. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000311 UniProtKB Expressed in highest levels in heart and skeletal muscle AAP 1/9/2013 123 3000000763 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, skeletal muscle and at lower levels in brain and liver. High level of expression in lymphoid tissues. skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y ECO:0000311 UniProtKB Expressed in highest levels in heart and skeletal muscle AAP 1/9/2013 123 3000000764 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, skeletal muscle and at lower levels in brain and liver. High level of expression in lymphoid tissues. lymphoid tissue UBERON:0001744 lymphoid tissue BTO:0000753 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 123 3000000765 Katie Q9NPC1 56413 LTB4R2 Homo sapiens 9606 Comment/Caution It is uncertain whether Met-1 or Met-32 is the initiator. Y N ECO:0000311 UniProtKB AAP 2/6/2013 107 3000000766 Katie Q9NPC1 56413 LTB4R2 Homo sapiens 9606 Comment/function Low-affinity receptor for leukotrienes including leukotriene B4. Mediates chemotaxis of granulocytes and macrophages. The response is mediated via G-proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinities for the leukotrienes is LTB4 > 12-epi-LTB4 > LTB5 > LTB3. leukotriene receptor activity GO:0004974 Y N ECO:0000311 UniProtKB GO MF Use=Y AAP 2/6/2013 107 3000000767 Katie Q9NPC1 56413 LTB4R2 Homo sapiens 9606 Comment/Sequence caution The sequence BAB00610.1 (EMBL-CDS). Reason: erroneous initiation Y N ECO:0000311 UniProtKB AAP 2/6/2013 107 3000000768 Katie Q9NPC1 56413 LTB4R2 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 107 3000000769 Katie Q9NPC1 56413 LTB4R2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Y N ECO:0000311 UniProtKB Widely expressed AAP 2/6/2013 107 3000000770 Faith/Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. basophil BTO:0000129 basophil CL:0000767 Y Y ECO:0000006 PubMed:7599836 UniProtKB No Uberon term AAP 11/28/2012 116 3000000771 Faith/Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. endothelial cell BTO:0001176 endothelial cell CL:0000115 Y Y ECO:0000006 PubMed:7599836 UniProtKB No Uberon term AAP 11/28/2012 116 3000000772 Faith/Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. eosinophil BTO:0000399 eosinophil CL:0000771 Y Y ECO:0000006 PubMed:7599836 UniProtKB No Uberon term AAP 11/28/2012 116 3000000773 Faith/Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. mast cell BTO:0000830 mast cell CL:0000097 Y Y ECO:0000006 PubMed:7599836 UniProtKB No Uberon term AAP 11/28/2012 116 3000000774 Faith/Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. mononuclear phagocyte BTO:0001433 mononuclear phagocyte CL:0000113 Y Y ECO:0000006 PubMed:7599836 UniProtKB No Uberon term; 'certain' suggest that it is not present in all mononuclear phagocytes AAP 11/28/2012 116 3000000775 Faith/Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. KG-1 cell BTO:0000670 myeloid cell CL:0000763 KG-1 CLO:0007094 Y Y ECO:0000006 PubMed:7599836 UniProtKB No Uberon term AAP 11/28/2012 116 3000000776 Faith/Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. blood platelet BTO:0000132 platelet CL:0000233 Y Y ECO:0000006 PubMed:7599836 UniProtKB No Uberon term AAP 11/28/2012 116 3000000777 Faith Q16873 4056 LTC4S Homo sapiens 9606 Comment/function Catalyzes the conjugation of leukotriene A4 with reduced glutathione to form leukotriene C4. Y N ECO:0000311 UniProtKB AAP 11/28/2012 116 3000000778 Faith Q16873 4056 LTC4S Homo sapiens 9606 Comment/Involvement in disease Leukotriene C4 synthase deficiency (LTC4 synthase deficiency) [MIM:246530]: Fatal neurometabolic developmental disorder. It is associated with muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:246530 MIM:208550 intrinsic asthma DOID:9360 Aspirin-sensitive asthma with nasal polyps SNOMEDCT:233686006 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000311 UniProtKB The deficiency phenotype is MIM:614037. Two cases of the deficiency are described and these patients died at the age of 6 months. For the MIM given, several diseases are discussed: aspirin intolerant asthma (MIM:208550) (patients display increased LTC4S expression and have a promoter polymorphism). I added the second MIM term. HDO does not have a term that captures the 'aspirin' effect in asthma. ICD has various intrinsic asthma terms, none aspirin related AAP 5/1/2013 119 3000000779 Faith Q16873 4056 LTC4S Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N ECO:0000311 UniProtKB AAP 11/28/2012 116 3000000780 Faith Q16873 4056 LTC4S Homo sapiens 9606 Comment/subcellular location Nucleus outer membrane;Multi-pass membrane protein nuclear outer membrane GO:0005640 SL-0183 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 116 3000000781 Faith/Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. blood vessel smooth muscle UBERON:0004237 vascular smooth muscle cell BTO:0004578 Y Y ECO:0000006 PubMed:7599836 UniProtKB No Uberon term AAP 11/28/2012 116 3000000782 Faith Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000006 PubMed:7599836 UniProtKB AAP 11/28/2012 116 3000000783 Faith Q16873 4056 LTC4S Homo sapiens 9606 EC 4.4.1.20 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 116 3000000784 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Comment/function Stress-activated serine/threonine-protein kinase involved in cytokines production, endocytosis, reorganization of the cytoskeleton, cell migration, cell cycle control, chromatin remodeling, DNA damage response and transcriptional regulation. Following stress, it is phosphorylated and activated by MAP kinase p38-alpha/MAPK14, leading to phosphorylation of substrates. Phosphorylates serine in the peptide sequence, Hyd-X-R-X(2)-S, where Hyd is a large hydrophobic residue. Phosphorylates ALOX5, CDC25B, CDC25C, ELAVL1, HNRNPA0, HSF1, HSP27/HSPB1, KRT18, KRT20, LIMK1, LSP1, PABPC1, PARN, PDE4A, RCSD1, RPS6KA3, TAB3 and TTP/ZFP36. Mediates phosphorylation of HSP27/HSPB1 in response to stress, leading to dissociate HSP27/HSPB1 from large small heat-shock protein (sHsps) oligomers and impair their chaperone activities and ability to protect against oxidative stress effectively. Involved in inflammatory response by regulating tumor necrosis factor (TNF) and IL6 production post-transcriptionally: acts by phosphorylating AU-rich elements (AREs)-binding proteins ELAVL1, HNRNPA0, PABPC1 and TTP/ZFP36, leading to regulate the stability and translation of TNF and IL6 mRNAs. Phosphorylation of TTP/ZFP36, a major post-transcriptional regulator of TNF, promotes its binding to 14-3-3 proteins and reduces its ARE mRNA affinity leading to inhibition of dependent degradation of ARE-containing transcript. Also involved in late G2/M checkpoint following DNA damage through a process of post-transcriptional mRNA stabilization: following DNA damage, relocalizes from nucleus to cytoplasm and phosphorylates HNRNPA0 and PARN, leading to stabilize GADD45A mRNA. Involved in toll-like receptor signaling pathway (TLR) in dendritic cells: required for acute TLR-induced macropinocytosis by phosphorylating and activating RPS6KA3. Y N ECO:0000006 PubMed:8280084 PubMed:8093612 PubMed:8774846 PubMed:10383393 PubMed:12456657 PubMed:11844797 PubMed:12565831 PubMed:14499342 PubMed:14517288 PubMed:15014438 PubMed:15629715 PubMed:16456544 PubMed:16278218 PubMed:17481585 PubMed:18021073 PubMed:20932473 UniProtKB AAP 11/28/2012 134 3000000785 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N ECO:0000311 UniProtKB AAP 11/28/2012 134 3000000786 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Comment/subcellular location Nucleus nucleus GO:0005634 SL-0191 Y N ECO:0000311 UniProtKB AAP 11/28/2012 134 3000000787 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Comment/subcellular location Phosphorylation and subsequent activation releases the autoinhibitory helix, resulting in the export from the nucleus into the cytoplasm. Y N ECO:0000311 UniProtKB AAP 11/28/2012 134 3000000788 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Comment/tissue specificity Expressed in all tissues examined. Y N ECO:0000311 UniProtKB Expressed in all tissues examined AAP 11/28/2012 134 3000000789 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 EC 2.7.11.1 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 134 3000000790 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/function Acyltransferase which mediates the conversion of lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) into phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoinositol or PI) (LPIAT activity). Prefers arachidonoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. Y Y ECO:0000006 PubMed:18094042 PubMed:18772128 UniProtKB AAP 11/28/2012 74 3000000791 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/pathway Lipid metabolism; phospholipid metabolism. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 74 3000000792 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/Sequence caution The sequence AAB37433.1 (EMBL-CDS). Reason: frameshift Y N ECO:0000311 UniProtKB AAP 11/28/2012 74 3000000793 Mike Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/subcellular location Membrane;Multi-pass membrane protein membrane GO:0016020 SL-0162 Y N potential UniProtKB AAP 11/28/2012 74 3000000794 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/tissue specificity Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. breast carcinoma DOID:3459 Carcinoma of breast SNOMEDCT:254838004 Y Y ECO:0000006 PubMed:8702217 UniProtKB PubMed:18772128 (ref 7 in UniProt) is linked to this information in UniProt, but is not correct. I've added the correct reference, and I'll email them. SNOMED has attributes 'metastatic to' and 'metastatic from'. OVEREXPRESSED AAP 11/28/2012 74 3000000795 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/tissue specificity Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. bladder carcinoma DOID:4007 Carcinoma of bladder SNOMEDCT:255108000 Y Y ECO:0000006 PubMed:8702217 UniProtKB PubMed:18772128 (ref 7 in UniProt) is linked to this information in UniProt, but is not correct. I've added the correct reference, and I'll email them. OVEREXPRESSED AAP 11/28/2012 74 3000000796 Faith/Rose Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/tissue specificity Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. breast epithelium UBERON:0008367 breast epithelium BTO:0001428 Y Y ECO:0000006 PubMed:8702217 UniProtKB PubMed:18772128 (ref 7 in UniProt) is linked to this information in UniProt, but is not correct. I've added the correct reference, and I'll email them. AAP 11/28/2012 74 3000000797 Faith/Rose Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/tissue specificity Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. urothelium UBERON:0000365 uroepithelium BTO:0003906 Y Y ECO:0000006 PubMed:8702217 UniProtKB PubMed:18772128 (ref 7 in UniProt) is linked to this information in UniProt, but is not correct. I've added the correct reference, and I'll email them. AAP 11/28/2012 74 3000000798 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 EC 2.3.1.- Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 74 3000000799 Faith Q99735 4258 MGST2 Homo sapiens 9606 EC 2.5.1.18 Y Y EC number UniProtKB AAP 4/3/2013 110 3000000800 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/function Can catalyze the production of LTC4 from LTA4 and reduced glutathione. Can catalyze the conjugation of 1-chloro-2,4-dinitrobenzene with reduced glutathione. Y N UniProtKB AAP 4/3/2013 110 3000000801 Mike Q99735 4258 MGST2 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N potential UniProtKB AAP 4/3/2013 110 3000000802 Mike Q99735 4258 MGST2 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Multi-pass membrane protein microsome GO:0005792 SL-0165 Y N potential UniProtKB AAP 4/3/2013 110 3000000803 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. liver UBERON:0002107 liver BTO:0000759 Y Y UniProtKB AAP 4/3/2013 110 3000000804 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. spleen UBERON:0002106 spleen BTO:0001281 Y Y UniProtKB AAP 4/3/2013 110 3000000805 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y UniProtKB AAP 4/3/2013 110 3000000806 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. heart UBERON:0000948 heart BTO:0000562 Y Y UniProtKB AAP 4/3/2013 110 3000000807 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. adrenal gland UBERON:0002369 adrenal gland BTO:0000047 Y Y UniProtKB AAP 4/3/2013 110 3000000808 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. pancreas UBERON:0001264 pancreas BTO:0000988 Y Y UniProtKB AAP 4/3/2013 110 3000000809 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. prostate gland UBERON:0002367 prostate gland BTO:0001129 Y Y UniProtKB AAP 4/3/2013 110 3000000810 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. testis UBERON:0000473 testis BTO:0001363 Y Y UniProtKB AAP 4/3/2013 110 3000000811 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. liver UBERON:0002107 liver BTO:0000759 fetus BTO:0000449 Y Y UniProtKB AAP 4/3/2013 110 3000000812 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. spleen UBERON:0002106 spleen BTO:0001281 Y Y UniProtKB AAP 4/3/2013 110 3000000813 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. lung UBERON:0002048 lung BTO:0000763 Y Y UniProtKB very low expression AAP 4/3/2013 110 3000000814 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. brain UBERON:0000955 brain BTO:0000142 Y Y UniProtKB very low expression AAP 4/3/2013 110 3000000815 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. placenta UBERON:0001987 placenta BTO:0001078 Y Y UniProtKB very low expression AAP 4/3/2013 110 3000000816 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. bone marrow UBERON:0002371 bone marrow BTO:0000141 Y Y UniProtKB very low expression AAP 4/3/2013 110 3000000817 Faith O14880 4259 MGST3 Homo sapiens 9606 EC 2.5.1.18 Y Y EC number UniProtKB AAP 4/3/2013 110 3000000818 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/function Also functions as a glutathione peroxidase. Y N UniProtKB AAP 4/3/2013 110 3000000819 Mike O14880 4259 MGST3 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N potential UniProtKB AAP 4/3/2013 110 3000000820 Mike O14880 4259 MGST3 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Multi-pass membrane protein microsome GO:0005792 SL-0165 Y N potential UniProtKB AAP 4/3/2013 110 3000000821 Mike O14880 4259 MGST3 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Lipid-anchor microsome GO:0005792 SL-0165 Y N potential UniProtKB AAP 4/3/2013 110 3000000822 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. heart UBERON:0000948 heart BTO:0000562 Y Y UniProtKB AAP 4/3/2013 110 3000000823 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y UniProtKB AAP 4/3/2013 110 3000000824 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. adrenal cortex UBERON:0001235 adrenal cortex BTO:0000045 Y Y UniProtKB AAP 4/3/2013 110 3000000825 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. brain UBERON:0000955 brain BTO:0000142 Y Y UniProtKB AAP 4/3/2013 110 3000000826 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. placenta UBERON:0001987 placenta BTO:0001078 Y Y UniProtKB AAP 4/3/2013 110 3000000827 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. liver UBERON:0002107 liver BTO:0000759 Y Y UniProtKB AAP 4/3/2013 110 3000000828 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. kidney UBERON:0002113 kidney BTO:0000671 Y Y UniProtKB AAP 4/3/2013 110 3000000829 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. pancreas UBERON:0001264 pancreas BTO:0000988 Y Y UniProtKB AAP 4/3/2013 110 3000000830 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. thyroid gland UBERON:0002046 thyroid gland BTO:0001379 Y Y UniProtKB AAP 4/3/2013 110 3000000831 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. testis UBERON:0000473 testis BTO:0001363 Y Y UniProtKB AAP 4/3/2013 110 3000000832 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. female gonad UBERON:0000992 ovary BTO:0000975 Y Y UniProtKB AAP 4/3/2013 110 3000000833 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. lung UBERON:0002048 lung BTO:0000763 Y Y UniProtKB Almost absent AAP 4/3/2013 110 3000000834 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. thymus UBERON:0002370 thymus BTO:0001374 Y Y UniProtKB Almost absent AAP 4/3/2013 110 3000000835 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. leukocyte BTO:0000751 Y Y UniProtKB Almost absent AAP 4/3/2013 110 3000000836 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. alveolar macrophage BTO:0000802 alveolar macrophage CL:0000583 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB lung macrophage AAP 4/3/2013 92 3000000837 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. eosinophil BTO:0000399 eosinophil CL:0000771 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3000000838 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. leukocyte BTO:0000751 leukocyte CL:0000738 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB peripheral leukocyte AAP 4/3/2013 92 3000000839 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. neutrophil BTO:0000130 neutrophil CL:0000775 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3000000840 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/function Receptor for eicosanoids and polyunsaturated fatty acids such as 5-oxo-6E,8Z,11Z,14Z-eicosatetraenoic acid (5-OXO-ETE), 5(S)-hydroperoxy-6E,8Z,11Z,14Z-eicosatetraenoic acid (5(S)-HPETE) and arachidonic acid. Seems to be coupled to the G(i)/G(o), families of heteromeric G proteins. Y N ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3000000841 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB AAP 4/3/2013 92 3000000842 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. Y N ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB Expressed in various tissues AAP 4/3/2013 92 3000000843 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3000000844 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3000000845 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3000000846 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. spleen UBERON:0002106 spleen BTO:0001281 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3000000847 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/Sequence caution The sequence BAC05878.1 (EMBL-CDS). Reason: erroneous initiation Y N UniProtKB AAP 4/3/2013 92 3000000848 Faith Q99487 5051 PAFAH2 Homo sapiens 9606 Comment/tissue specificity Broadly expressed in different tissues, but high in B- and T-lymphocytes. In brain, expression is restricted to amygdala and frontal cortex. B-lymphocyte BTO:0000776 B cell CL:0000236 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 114 3000000849 Faith Q99487 5051 PAFAH2 Homo sapiens 9606 Comment/tissue specificity Broadly expressed in different tissues, but high in B- and T-lymphocytes. In brain, expression is restricted to amygdala and frontal cortex. T-lymphocyte BTO:0000782 T cell CL:0000084 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 114 3000000850 Faith Q99487 5051 PAFAH2 Homo sapiens 9606 Comment/function Has a marked selectivity for phospholipids with short acyl chains at the sn-2 position. May share a common physiologic function with the plasma-type enzyme. Y Y ECO:0000311 UniProtKB AAP 1/9/2013 114 3000000851 Faith Q99487 5051 PAFAH2 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 114 3000000852 Faith Q99487 5051 PAFAH2 Homo sapiens 9606 Comment/tissue specificity Broadly expressed in different tissues, but high in B- and T-lymphocytes. In brain, expression is restricted to amygdala and frontal cortex. Y N ECO:0000311 UniProtKB broadly expressed. No references given, but BRENDA has tissue information AAP 1/9/2013 114 3000000853 Faith Q99487 5051 PAFAH2 Homo sapiens 9606 Comment/tissue specificity Broadly expressed in different tissues, but high in B- and T-lymphocytes. In brain, expression is restricted to amygdala and frontal cortex. amygdala UBERON:0001876 amygdala BTO:0001042 Y Y ECO:0000311 UniProtKB In brain, expression restricted to amygdala and frontal cortex AAP 1/9/2013 114 3000000854 Faith Q99487 5051 PAFAH2 Homo sapiens 9606 Comment/tissue specificity Broadly expressed in different tissues, but high in B- and T-lymphocytes. In brain, expression is restricted to amygdala and frontal cortex. frontal cortex UBERON:0001870 frontal lobe BTO:0000484 Y Y ECO:0000311 UniProtKB In brain, expression restricted to amygdala and frontal cortex AAP 1/9/2013 114 3000000855 Faith Q99487 5051 PAFAH2 Homo sapiens 9606 EC 3.1.1.47 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 114 3000000856 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/function PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Has a powerful potency for releasing arachidonic acid from cell membrane phospholipids. Prefers phosphatidylethanolamine and phosphatidylcholine liposomes to those of phosphatidylserine. Y N ECO:0000311 UniProtKB covered by EC code AAP 11/28/2012 125 3000000857 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000858 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/tissue specificity Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. colon UBERON:0001155 colon BTO:0000269 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000859 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/tissue specificity Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. leukocyte BTO:0000751 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000860 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/tissue specificity Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000861 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/tissue specificity Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. pancreas UBERON:0001264 pancreas BTO:0000988 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000862 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/tissue specificity Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. spleen UBERON:0002106 spleen BTO:0001281 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000863 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/tissue specificity Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. thymus UBERON:0002370 thymus BTO:0001374 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3000000864 Mike O15496 8399 PLA2G10 Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 125 3000000865 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/function PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Does not exhibit detectable activity toward sn-2-arachidonoyl- or linoleoyl-phosphatidylcholine or -phosphatidylethanolamine. phospholipid metabolic process GO:0006644 Y Y ECO:0000006 PubMed:12522102 UniProtKB AAP 11/28/2012 114 3000000866 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3000000867 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3000000868 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/tissue specificity Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3000000869 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/tissue specificity Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3000000870 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/tissue specificity Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3000000871 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/tissue specificity Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. pancreas UBERON:0001264 pancreas BTO:0000988 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3000000872 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/tissue specificity Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3000000873 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 114 3000000874 Katie Q9BX93 84647 PLA2G12B Homo sapiens 9606 Comment/function Not known; does not seem to have catalytic activity. Y N ECO:0000311 UniProtKB AAP 11/28/2012 99 3000000875 Katie Q9BX93 84647 PLA2G12B Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 99 3000000876 Katie Q9BX93 84647 PLA2G12B Homo sapiens 9606 Comment/tissue specificity Strong expression in liver, small intestine and kidney. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:14516201 UniProtKB AAP 11/28/2012 99 3000000877 Katie Q9BX93 84647 PLA2G12B Homo sapiens 9606 Comment/tissue specificity Strong expression in liver, small intestine and kidney. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:14516201 UniProtKB AAP 11/28/2012 99 3000000878 Katie Q9BX93 84647 PLA2G12B Homo sapiens 9606 Comment/tissue specificity Strong expression in liver, small intestine and kidney. small intestine UBERON:0002108 small intestine BTO:0000651 Y Y ECO:0000006 PubMed:14516201 UniProtKB AAP 11/28/2012 99 3000000879 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/tissue specificity Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. hematopoietic cell BTO:0000574 hematopoietic cell CL:0000988 Y Y ECO:0000006 PubMed:19615464 PubMed:9771974 PubMed:11526504 PubMed:11973642 UniProtKB low expression, if any AAP 5/29/2013 109 3000000880 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/tissue specificity Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. spermatid BTO:0001274 spermatid CL:0000018 Y Y ECO:0000006 PubMed:19615464 PubMed:9771974 PubMed:11526504 PubMed:11973642 UniProtKB confined to round spermatids in testis AAP 5/29/2013 109 3000000881 Faith P53816 11145 PLA2G16 Homo sapiens 9606 EC 3.1.1.4 Y Y EC number UniProtKB AAP 5/29/2013 109 3000000882 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/function Exhibits PLA1/2 activity, catalyzing the calcium-independent hydrolysis of acyl groups in various phosphatidylcholines (PC) and phosphatidylethanolamine (PE). For most substrates, PLA1 activity is much higher than PLA2 activity. Specifically catalyzes the release of fatty acids from phospholipids in adipose tissue (By similarity). N- and O-acylation activity is hardly detectable. Might decrease protein phosphatase 2A (PP2A) activity. Y N ECO:0000006 PubMed:19615464 PubMed:17374643 UniProtKB AAP 5/29/2013 109 3000000883 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N UniProtKB AAP 5/29/2013 109 3000000884 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/subcellular location Perinuclear region perinuclear region of cytoplasm GO:0048471 SL-0198 Y Y UniProtKB AAP 5/29/2013 109 3000000885 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/subcellular location Membrane;Single-pass membrane protein membrane GO:0016020 SL-0162 Y N by similarity UniProtKB AAP 5/29/2013 109 3000000886 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/tissue specificity Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. Y N ECO:0000006 PubMed:19615464 PubMed:9771974 PubMed:11526504 PubMed:11973642 UniProtKB Widely expressed AAP 5/29/2013 109 3000000887 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/tissue specificity Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. thymus UBERON:0002370 thymus BTO:0001374 Y Y ECO:0000006 PubMed:19615464 PubMed:9771974 PubMed:11526504 PubMed:11973642 UniProtKB low expression, if any AAP 5/29/2013 109 3000000888 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/tissue specificity Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. epithelium of female gonad UBERON:0004911 ovary epithelium BTO:0003661 Y Y ECO:0000006 PubMed:19615464 PubMed:9771974 PubMed:11526504 PubMed:11973642 UniProtKB AAP 5/29/2013 109 3000000889 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/tissue specificity Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. ovarian carcinoma DOID:4001 Y Y ECO:0000006 PubMed:19615464 PubMed:9771974 PubMed:11526504 PubMed:11973642 UniProtKB Down regulated AAP 5/29/2013 109 3000000890 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/tissue specificity Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. testicular germ cell cancer DOID:5557 Y Y ECO:0000006 PubMed:19615464 PubMed:9771974 PubMed:11526504 PubMed:11973642 UniProtKB AAP 5/29/2013 109 3000000891 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/induction By IFNG and IRF1. Y N ECO:0000006 PubMed:11973642 UniProtKB AAP 5/29/2013 109 3000000892 Mike P04054 5319 PLA2G1B Homo sapiens 9606 Comment/function PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. glycerophospholipid metabolic process GO:0006650 Y Y ECO:0000311 UniProtKB Possibly covered by existing GO annotation AAP 2/6/2013 140 3000000893 Mike P04054 5319 PLA2G1B Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 140 3000000894 Mike P04054 5319 PLA2G1B Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 140 3000000895 Mike P14555 5320 PLA2G2A Homo sapiens 9606 Comment/function Thought to participate in the regulation of the phospholipid metabolism in biomembranes including eicosanoid biosynthesis. Catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Y N ECO:0000311 UniProtKB covered by GO annotation AAP 1/9/2013 154 3000000896 Mike P14555 5320 PLA2G2A Homo sapiens 9606 Comment/miscellaneous Group II phospholipase A2 is found in many cells and also extracellularly. The membrane-bound and secreted forms are identical and are encoded by a single gene. extracellular space GO:0005615 Y N ECO:0000311 UniProtKB coverd by GO and elsewhere AAP 1/9/2013 154 3000000897 Mike P14555 5320 PLA2G2A Homo sapiens 9606 Comment/subcellular location Membrane;Peripheral membrane protein extrinsic to membrane GO:0019898 SL-0162 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 154 3000000898 Mike P14555 5320 PLA2G2A Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 154 3000000899 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Comment/function PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. L-alpha-1-palmitoyl-2-linoleoyl phosphatidylethanolamine is more efficiently hydrolyzed than the other phospholipids examined. phospholipid metabolic process GO:0006644 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 115 3000000900 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 115 3000000901 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Comment/tissue specificity Broadly expressed. Y N ECO:0000311 UniProtKB Broadly expressed AAP 2/6/2013 115 3000000902 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 115 3000000903 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/function PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Has a preference for arachidonic-containing phospholipids. phospholipid metabolic process GO:0006644 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 102 3000000904 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 102 3000000905 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/tissue specificity Restricted to the brain, heart, lung, and placenta. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 102 3000000906 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/tissue specificity Restricted to the brain, heart, lung, and placenta. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 102 3000000907 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/tissue specificity Restricted to the brain, heart, lung, and placenta. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 102 3000000908 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/tissue specificity Restricted to the brain, heart, lung, and placenta. placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 102 3000000909 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 102 3000000910 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/function PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Hydrolyzes phosphatidylglycerol versus phosphatidylcholine with a 15-fold preference. phospholipid metabolic process GO:0006644 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3000000911 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 100 3000000912 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3000000913 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3000000914 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3000000915 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3000000916 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. prostate gland UBERON:0002367 prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3000000917 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. testis UBERON:0000473 testis BTO:0001363 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3000000918 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. thymus UBERON:0002370 thymus BTO:0001374 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3000000919 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 100 3000000920 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/function PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Shows an 11-fold preference for phosphatidylglycerol over phosphatidylcholine (PC). Preferential cleavage: 1-palmitoyl-2-linoleoyl-phosphatidylethanolamine (PE) > 1-palmitoyl-2-linoleoyl-PC > 1-palmitoyl-2-arachidonoyl-PC > 1-palmitoyl-2-arachidonoyl-PE. Plays a role in ciliogenesis. phospholipid metabolic process GO:0006644 Y Y ECO:0000006 PubMed:12522102 PubMed:20393563 UniProtKB AAP 11/28/2012 110 3000000921 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/induction By IL1B/interleukin-1 beta and TNF in microvascular endothelial cells (at protein level). Y N ECO:0000006 PubMed:15863501 UniProtKB AAP 11/28/2012 110 3000000922 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/Sequence caution The sequence AAD15617.1 (EMBL-CDS). Reason: erroneous gene model prediction Y N ECO:0000311 UniProtKB AAP 11/28/2012 110 3000000923 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/subcellular location Centriole centriole GO:0005814 SL-0046 Y N ECO:0000311 UniProtKB AAP 11/28/2012 110 3000000924 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 110 3000000925 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/subcellular location Cell membrane plasma membrane GO:0005886 SL-0039 Y N ECO:0000311 UniProtKB AAP 11/28/2012 110 3000000926 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). microvascular endothelium UBERON:0008339 microvascular endothelium BTO:0003122 breast cancer DOID:1612 Y Y ECO:0000006 PubMed:15863501 UniProtKB In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). AAP 11/28/2012 110 3000000927 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). breast cancer cell BTO:0000150 breast cancer DOID:1612 Y Y ECO:0000006 PubMed:15863501 UniProtKB No Uberon term; In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). AAP 11/28/2012 110 3000000928 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). microvascular endothelium UBERON:0008339 microvascular endothelium BTO:0003122 colon cancer DOID:219 Y Y ECO:0000006 PubMed:15863501 UniProtKB In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). AAP 11/28/2012 110 3000000929 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). colonic cancer cell BTO:0000586 colon cancer DOID:219 Y Y ECO:0000006 PubMed:15863501 UniProtKB No Uberon term; In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). AAP 11/28/2012 110 3000000930 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). microvascular endothelium UBERON:0008339 microvascular endothelium BTO:0003122 uterine cancer DOID:363 Y Y ECO:0000006 PubMed:15863501 UniProtKB In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). AAP 11/28/2012 110 3000000931 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). uterine cancer cell BTO:0000257 uterine cancer DOID:363 Y Y ECO:0000006 PubMed:15863501 UniProtKB No Uberon term; In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). AAP 11/28/2012 110 3000000932 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). endothelium UBERON:0001986 vascular endothelial cell BTO:0001854 myocardial infarction DOID:5844 Y Y ECO:0000006 PubMed:15863501 UniProtKB In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation AAP 11/28/2012 110 3000000933 Rose Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). skeletal joint UBERON:0000982 joint BTO:0001686 rheumatoid arthritis DOID:7148 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP 11/28/2012 110 3000000934 Rose Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). skeletal joint UBERON:0000982 joint BTO:0001686 osteoarthritis DOID:8398 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP 11/28/2012 110 3000000935 Katie/Rose Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). Y N ECO:0000006 PubMed:15863501 UniProtKB but not in normal glandular tissues (at protein level) AAP 11/28/2012 110 3000000936 Katie/Rose Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). Y N ECO:0000006 PubMed:15863501 UniProtKB Expression in cardiomyocytes is scarce (at protein level) AAP 11/28/2012 110 3000000937 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). alveolar macrophage BTO:0000802 Y Y ECO:0000006 PubMed:15863501 UniProtKB No Uberon term AAP 11/28/2012 110 3000000938 Rose Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). endothelial cell BTO:0001176 Y Y ECO:0000006 PubMed:15863501 UniProtKB No Uberon term AAP 11/28/2012 110 3000000939 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). leukocyte BTO:0000751 Y Y ECO:0000006 PubMed:15863501 UniProtKB No Uberon term AAP 11/28/2012 110 3000000940 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). Y N ECO:0000006 PubMed:15863501 UniProtKB Not detected in brain, colon, thymus, spleen and small intestine. AAP 11/28/2012 110 3000000941 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). Y N ECO:0000006 PubMed:15863501 UniProtKB Not detected in brain, colon, thymus, spleen and small intestine. AAP 11/28/2012 110 3000000942 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). Y N ECO:0000006 PubMed:15863501 UniProtKB Not detected in brain, colon, thymus, spleen and small intestine. AAP 11/28/2012 110 3000000943 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). Y N ECO:0000006 PubMed:15863501 UniProtKB Not detected in brain, colon, thymus, spleen and small intestine. AAP 11/28/2012 110 3000000944 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). Y N ECO:0000006 PubMed:15863501 UniProtKB Not detected in brain, colon, thymus, spleen and small intestine. AAP 11/28/2012 110 3000000945 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). Y N ECO:0000006 PubMed:15863501 UniProtKB Not detected in brain, colon, thymus, spleen and small intestine. AAP 11/28/2012 110 3000000946 Katie/Rose Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). Y N ECO:0000006 PubMed:15863501 UniProtKB scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level) AAP 11/28/2012 110 3000000947 Katie/Rose Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). Y N ECO:0000006 PubMed:15863501 UniProtKB scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level) AAP 11/28/2012 110 3000000948 Katie/Rose Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). Y N ECO:0000006 PubMed:15863501 UniProtKB scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level) AAP 11/28/2012 110 3000000949 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). blood vessel UBERON:0001981 blood vessel BTO:0001102 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP 11/28/2012 110 3000000950 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). epithelium of bronchus UBERON:0002031 bronchial epithelium BTO:0001845 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP 11/28/2012 110 3000000951 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP 11/28/2012 110 3000000952 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP 11/28/2012 110 3000000953 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP 11/28/2012 110 3000000954 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP 11/28/2012 110 3000000955 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP 11/28/2012 110 3000000956 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 110 3000000957 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/function Selectively hydrolyzes arachidonyl phospholipids in the sn-2 position releasing arachidonic acid. Together with its lysophospholipid activity, it is implicated in the initiation of the inflammatory response. Y N ECO:0000311 UniProtKB inflammatory response AAP 11/28/2012 140 3000000958 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 140 3000000959 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/subcellular location Cytoplasmic vesicle cytoplasmic membrane-bounded vesicle GO:0016023 SL-0088 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 140 3000000960 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/subcellular location Translocates to membrane vesicles in a calcium-dependent fashion. Y N ECO:0000311 UniProtKB AAP 11/28/2012 140 3000000961 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues such as macrophages, platelets, neutrophils, fibroblasts and lung endothelium. blood platelet BTO:0000132 Y Y ECO:0000311 UniProtKB No Uberon term AAP 11/28/2012 140 3000000962 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues such as macrophages, platelets, neutrophils, fibroblasts and lung endothelium. fibroblast BTO:0000452 Y Y ECO:0000311 UniProtKB No Uberon term AAP 11/28/2012 140 3000000963 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues such as macrophages, platelets, neutrophils, fibroblasts and lung endothelium. macrophage BTO:0000801 Y Y ECO:0000311 UniProtKB No Uberon term AAP 11/28/2012 140 3000000964 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues such as macrophages, platelets, neutrophils, fibroblasts and lung endothelium. neutrophil BTO:0000130 Y Y ECO:0000311 UniProtKB No Uberon term AAP 11/28/2012 140 3000000965 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues such as macrophages, platelets, neutrophils, fibroblasts and lung endothelium. lung endothelium UBERON:0013479 lung endothelium BTO:0004128 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 140 3000000966 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/Caution Most tissues also express read-through transcripts from this gene into the upstream gene (JMJD7), some of which may encode fusion proteins. Y N ECO:0000311 UniProtKB AAP 11/28/2012 45 3000000967 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/function Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position with a preference for arachidonoyl phospholipids. Has a much weaker activity than PLA2G4A. Isoform 3 has calcium-dependent activity against palmitoyl-arachidonyl-phosphatidylethanolamine and low level lysophospholipase activity but no activity against phosphatidylcholine. Isoform 5 does have activity against phosphatidylcholine. Y N ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB AAP 11/28/2012 45 3000000968 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/Sequence caution The sequence BAD92387.1 (EMBL-CDS). Reason: erroneous initiation. Translation N-terminally shortened. Y N ECO:0000311 UniProtKB AAP 11/28/2012 45 3000000969 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/subcellular location Early endosome membrane;Peripheral membrane protein early endosome membrane GO:0031901 SL-0093 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 45 3000000970 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/subcellular location Mitochondrion membrane;Peripheral membrane protein mitochondrial membrane GO:0031966 SL-0171 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 45 3000000971 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/subcellular location Translocates to membrane vesicles in a calcium-dependent fashion. Y N ECO:0000311 UniProtKB AAP 11/28/2012 45 3000000972 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. Isoform 3 is widely expressed Y N ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB Isoform 3 is widely expressed AAP 11/28/2012 45 3000000973 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. Y N ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB Widely expressed AAP 11/28/2012 45 3000000974 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB AAP 11/28/2012 45 3000000975 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. cerebellum UBERON:0002037 cerebellum BTO:0000232 Y Y ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB AAP 11/28/2012 45 3000000976 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB AAP 11/28/2012 45 3000000977 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB AAP 11/28/2012 45 3000000978 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. pancreas UBERON:0001264 pancreas BTO:0000988 Y Y ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB AAP 11/28/2012 45 3000000979 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 45 3000000980 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Comment/function Has a preference for arachidonic acid at the sn-2 position of phosphatidylcholine as compared with palmitic acid. phospholipid metabolic process GO:0006644 Y Y ECO:0000006 PubMed:10085124 UniProtKB AAP 11/28/2012 93 3000000981 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Comment/subcellular location Membrane;Lipid-anchor membrane GO:0016020 SL-0162 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 93 3000000982 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart and skeletal muscle. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:10085124 PubMed:9705332 UniProtKB AAP 11/28/2012 93 3000000983 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart and skeletal muscle. skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:10085124 PubMed:9705332 UniProtKB AAP 11/28/2012 93 3000000984 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 93 3000000985 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/function Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position. Not arachidonic acid-specific but has linoleic acid-specific activity. May play a role in inflammation in psoriatic lesions. psoriasis DOID:8893 Y Y ECO:0000006 PubMed:14709560 UniProtKB AAP 11/28/2012 82 3000000986 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/Sequence caution The sequence AAH34571.1 (EMBL-CDS). Reason: erroneous initiation. Translation N-terminally extended. Y N ECO:0000311 UniProtKB AAP 11/28/2012 82 3000000987 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/subcellular location Cytoplasmic vesicle membrane;Peripheral membrane protein cytoplasmic vesicle membrane GO:0030659 SL-0089 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 82 3000000988 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/subcellular location Cytosol cytosol GO:0005829 SL-0091 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 82 3000000989 Mike Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/subcellular location Translocates to membrane vesicles in a calcium-dependent fashion. Translocates to perinuclear regions upon ionomycin stimulation (By similarity). Y N by similarity UniProtKB AAP 11/28/2012 82 3000000990 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/tissue specificity Expressed in stratified squamous epithelia, such as those in skin and cervix, but not in other tissues. Strongly expressed in the upper spinous layer of the psoriatic epidermis, expressed weakly and discontinuously in atopic dermatitis and mycosis fungoides, and not detected in the epidermis of normal skin. atopic dermatitis DOID:3310 Y Y ECO:0000006 PubMed:14709560 UniProtKB discontinuously in atopic dermatitis; expressed weakly and discontinuously AAP 11/28/2012 82 3000000991 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/tissue specificity Expressed in stratified squamous epithelia, such as those in skin and cervix, but not in other tissues. Strongly expressed in the upper spinous layer of the psoriatic epidermis, expressed weakly and discontinuously in atopic dermatitis and mycosis fungoides, and not detected in the epidermis of normal skin. mycosis fungoides DOID:8691 Y Y ECO:0000006 PubMed:14709560 UniProtKB expressed weakly and discontinuously; mycosis fungoides AAP 11/28/2012 82 3000000992 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/tissue specificity Expressed in stratified squamous epithelia, such as those in skin and cervix, but not in other tissues. Strongly expressed in the upper spinous layer of the psoriatic epidermis, expressed weakly and discontinuously in atopic dermatitis and mycosis fungoides, and not detected in the epidermis of normal skin. stratum spinosum of epidermis UBERON:0002026 stratum spinosum BTO:0000435 psoriasis DOID:8893 Y Y ECO:0000006 PubMed:14709560 UniProtKB strongly expressed AAP 11/28/2012 82 3000000993 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/tissue specificity Expressed in stratified squamous epithelia, such as those in skin and cervix, but not in other tissues. Strongly expressed in the upper spinous layer of the psoriatic epidermis, expressed weakly and discontinuously in atopic dermatitis and mycosis fungoides, and not detected in the epidermis of normal skin. stratified squamous epithelium UBERON:0006915 squamous epithelium BTO:0002072 Y Y ECO:0000006 PubMed:14709560 UniProtKB Did not find 'stratified' in BRENDA AAP 11/28/2012 82 3000000994 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/tissue specificity Expressed in stratified squamous epithelia, such as those in skin and cervix, but not in other tissues. Strongly expressed in the upper spinous layer of the psoriatic epidermis, expressed weakly and discontinuously in atopic dermatitis and mycosis fungoides, and not detected in the epidermis of normal skin. Y N ECO:0000006 PubMed:14709560 UniProtKB expressed weakly AAP 11/28/2012 82 3000000995 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/tissue specificity Expressed in stratified squamous epithelia, such as those in skin and cervix, but not in other tissues. Strongly expressed in the upper spinous layer of the psoriatic epidermis, expressed weakly and discontinuously in atopic dermatitis and mycosis fungoides, and not detected in the epidermis of normal skin. cervix squamous epithelium UBERON:0006922 cervical epithelium BTO:0000241 Y Y ECO:0000006 PubMed:14709560 UniProtKB In Uberon, did not find 'stratified'. In BRENDA: cervical endothelium and cervical squamous epithelial cell AAP 11/28/2012 82 3000000996 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/tissue specificity Expressed in stratified squamous epithelia, such as those in skin and cervix, but not in other tissues. Strongly expressed in the upper spinous layer of the psoriatic epidermis, expressed weakly and discontinuously in atopic dermatitis and mycosis fungoides, and not detected in the epidermis of normal skin. Y N ECO:0000006 PubMed:14709560 UniProtKB not detected in the epidermis of normal skin AAP 11/28/2012 82 3000000997 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/tissue specificity Expressed in stratified squamous epithelia, such as those in skin and cervix, but not in other tissues. Strongly expressed in the upper spinous layer of the psoriatic epidermis, expressed weakly and discontinuously in atopic dermatitis and mycosis fungoides, and not detected in the epidermis of normal skin. epidermis UBERON:0001003 skin BTO:0001253 Y Y ECO:0000006 PubMed:14709560 UniProtKB AAP 11/28/2012 82 3000000998 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 82 3000000999 Mike Q3MJ16 123745 PLA2G4E Homo sapiens 9606 Comment/function Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position (By similarity). Y N by similarity UniProtKB AAP 11/28/2012 70 3000001000 Faith Q3MJ16 123745 PLA2G4E Homo sapiens 9606 Comment/subcellular location Cytosol cytosol GO:0005829 SL-0091 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 70 3000001001 Faith Q3MJ16 123745 PLA2G4E Homo sapiens 9606 Comment/subcellular location Lysosome membrane;Peripheral membrane protein lysosomal membrane GO:0005765 SL-0157 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 70 3000001002 Mike Q3MJ16 123745 PLA2G4E Homo sapiens 9606 Comment/subcellular location Translocates to lysosomal membranes in a calcium-dependent fashion (By similarity). Y N by similarity UniProtKB AAP 11/28/2012 70 3000001003 Faith Q3MJ16 123745 PLA2G4E Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 70 3000001004 Mike Q68DD2 255189 PLA2G4F Homo sapiens 9606 Comment/function Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position. Has higher enzyme activity for phosphatidylethanolamine than phosphatidylcholine (By similarity). Y N by similarity UniProtKB AAP 11/28/2012 72 3000001005 Faith Q68DD2 255189 PLA2G4F Homo sapiens 9606 Comment/subcellular location Cytosol cytosol GO:0005829 SL-0091 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 72 3000001006 Faith Q68DD2 255189 PLA2G4F Homo sapiens 9606 Comment/subcellular location Lysosome membrane;Peripheral membrane protein lysosomal membrane GO:0005765 SL-0157 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 72 3000001007 Mike Q68DD2 255189 PLA2G4F Homo sapiens 9606 Comment/subcellular location Translocates to lysosomal membranes in a calcium-dependent fashion (By similarity). Y N by similarity UniProtKB AAP 11/28/2012 72 3000001008 Faith Q68DD2 255189 PLA2G4F Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 72 3000001009 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/function PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. This isozyme hydrolyzes more efficiently L-alpha-1-palmitoyl-2-oleoyl phosphatidylcholine than L-alpha-1-palmitoyl-2-arachidonyl phosphatidylcholine, L-alpha-1-palmitoyl-2-arachidonyl phosphatidylethanolamine, or L-alpha-1-stearoyl-2-arachidonyl phosphatidylinositol. May be involved in the production of lung surfactant, the remodeling or regulation of cardiac muscle. Y N ECO:0000311 UniProtKB AAP 11/28/2012 123 3000001010 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/Involvement in disease Fleck retina, familial benign (FRFB) [MIM:228980]: An autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:228980 retinal disease DOID:5679 Retinal flecking SNOMEDCT:247138002 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:22137173 UniProtKB HDO term more general than OMIM. AAP 5/1/2013 126 3000001011 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 123 3000001012 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/tissue specificity Heart, placenta and less abundantly, in lung. Detected in the outer and inner plexiform layers of the retina (at protein level). Y N ECO:0000006 PubMed:22137173 UniProtKB Detected in the outer AAP 11/28/2012 123 3000001013 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/tissue specificity Heart, placenta and less abundantly, in lung. Detected in the outer and inner plexiform layers of the retina (at protein level). Y N ECO:0000006 PubMed:22137173 UniProtKB less abundantly AAP 11/28/2012 123 3000001014 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/tissue specificity Heart, placenta and less abundantly, in lung. Detected in the outer and inner plexiform layers of the retina (at protein level). heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 11/28/2012 123 3000001015 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/tissue specificity Heart, placenta and less abundantly, in lung. Detected in the outer and inner plexiform layers of the retina (at protein level). lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 11/28/2012 123 3000001016 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/tissue specificity Heart, placenta and less abundantly, in lung. Detected in the outer and inner plexiform layers of the retina (at protein level). placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 11/28/2012 123 3000001017 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/tissue specificity Heart, placenta and less abundantly, in lung. Detected in the outer and inner plexiform layers of the retina (at protein level). retina UBERON:0000966 retina BTO:0001175 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 11/28/2012 123 3000001018 Rose P39877 5322 PLA2G5 Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 123 3000001019 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/function Catalyzes the release of fatty acids from phospholipids. It has been implicated in normal phospholipid remodeling, nitric oxide-induced or vasopressin-induced arachidonic acid release and in leukotriene and prostaglandin production. May participate in fas mediated apoptosis and in regulating transmembrane ion flux in glucose-stimulated B-cells. Has a role in cardiolipin (CL) deacylation. Required for both speed and directionality of monocyte MCP1/CCL2-induced chemotaxis through regulation of F-actin polymerization at the pseudopods. Y N ECO:0000006 PubMed:18208975 PubMed:19164547 UniProtKB AAP 1/9/2013 128 3000001020 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/function Isoform ankyrin-iPLA2-1 and isoform ankyrin-iPLA2-2, which lack the catalytic domain, are probably involved in the negative regulation of iPLA2 activity. Y N ECO:0000006 PubMed:18208975 PubMed:19164547 UniProtKB AAP 1/9/2013 128 3000001021 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/Involvement in disease Parkinson disease 14 (PARK14) [MIM:612953]: An adult-onset progressive neurodegenerative disorder characterized by parkinsonism, dystonia, severe cognitive decline, cerebral and cerebellar atrophy and absent iron in the basal ganglia on magnetic resonance imaging. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:612953 Parkinson's disease DOID:14330 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:18570303 UniProtKB The OMIM term is more specific than the HDO term. ICD:332 332.0 AAP 5/1/2013 131 3000001022 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/Involvement in disease Neurodegeneration with brain iron accumulation 2A (NBIA2A) [MIM:256600]: A neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:256600 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000311 UniProtKB AAP 5/1/2013 131 3000001023 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/Involvement in disease Neurodegeneration with brain iron accumulation 2B (NBIA2B) [MIM:610217]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, dysarthria and sensorimotor impairment. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:610217 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:16783378 UniProtKB AAP 5/1/2013 131 3000001024 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N ECO:0000311 UniProtKB already covered in GO annotation AAP 1/9/2013 128 3000001025 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/tissue specificity Four different transcripts were found to be expressed in a distinct tissue distribution. Y N ECO:0000311 UniProtKB Four different transcripts were found to be expressed in a distinct tissue distribution AAP 1/9/2013 128 3000001026 Mike O60733 8398 PLA2G6 Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 128 3000001027 Mike Q6P1J6 151056 PLB1 Homo sapiens 9606 Comment/function Membrane-associated phospholipase. Exhibits a calcium-independent broad substrate specificity including phospholipase A2/lysophospholipase activity. Preferential hydrolysis at the sn-2 position of diacylphospholipids and diacyglycerol, whereas it shows no positional specificity toward triacylglycerol. Exhibits also esterase activity toward p-nitrophenyl. May act on the brush border membrane to facilitate the absorption of digested lipids (By similarity). Y N by similarity UniProtKB AAP 11/28/2012 77 3000001028 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Comment/Sequence caution The sequence BAB70920.1 (EMBL-CDS). Reason: erroneous initiation. Translation N-terminally extended. Y N ECO:0000311 UniProtKB AAP 11/28/2012 77 3000001029 Mike Q6P1J6 151056 PLB1 Homo sapiens 9606 Comment/subcellular location Apical cell membrane;Single-pass type I membrane protein apical plasma membrane GO:0016324 SL-0015 Y N by similarity UniProtKB AAP 11/28/2012 77 3000001030 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Comment/subcellular location Present in the intestinal brush border membranes (By similarity). Y N ECO:0000311 UniProtKB By similarity AAP 11/28/2012 77 3000001031 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Comment/tissue specificity Expressed in the epidermis (at protein level). epidermis UBERON:0001003 epidermis BTO:0000404 Y Y ECO:0000006 PubMed:12150957 UniProtKB protein level AAP 11/28/2012 77 3000001032 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/developmental stage Induced during differentiation of primary preadipocytes to adipocytes. Expression increased from fetal to adult in retinal pigment epithelium. preadipocyte BTO:0001107 preadipocyte CL:0002334 Y Y ECO:0000006 PubMed:17032652 PubMed:16249444 PubMed:16705060 UniProtKB Difficult to capture developmental information. AAP 6/26/2013 87 3000001033 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 EC 3.1.1.3 Y Y EC number UniProtKB AAP 6/26/2013 87 3000001034 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/function Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets. Also has acylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulates adiposome size and may be involved in the degradation of adiposomes. May play an important role in energy homeostasis. May play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providing free fatty acids to other tissues to be oxidized in situations of energy depletion. Y N ECO:0000006 PubMed:15550674 PubMed:15364929 PubMed:16239926 UniProtKB AAP 6/26/2013 87 3000001035 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/pathway Glycerolipid metabolism; triacylglycerol degradation. glycerolipid metabolic process GO:0046486 UPA00230 Y N UniProtKB A more specific term is already in GO AAP 6/26/2013 87 3000001036 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/subcellular location Lipid droplet lipid particle GO:0005811 SL-0154 Y N UniProtKB Already in GO AAP 6/26/2013 87 3000001037 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/subcellular location Cell membrane;Single-pass type II membrane protein plasma membrane GO:0005886 SL-0039 Y N UniProtKB Already in GO AAP 6/26/2013 87 3000001038 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). adipose tissue UBERON:0001013 adipose tissue BTO:0001487 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB Highest expression AAP 6/26/2013 87 3000001039 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB AAP 6/26/2013 87 3000001040 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB AAP 6/26/2013 87 3000001041 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). digestive tract UBERON:0001555 gastrointestinal tract BTO:0000511 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB Is there a more specific location in one of the publications? AAP 6/26/2013 87 3000001042 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). retina UBERON:0000966 retina BTO:0001175 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB AAP 6/26/2013 87 3000001043 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). retinoblastoma cell BTO:0001178 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB AAP 6/26/2013 87 3000001044 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). pigmented layer of retina UBERON:0001782 retinal pigment epithelium BTO:0001177 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB AAP 6/26/2013 87 3000001045 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). photoreceptor inner segment layer UBERON:0003925 photoreceptor BTO:0001060 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB expressed at lower intensity AAP 6/26/2013 87 3000001046 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). ganglionic layer of retina UBERON:0001792 ganglion cell layer BTO:0003398 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB expressed at lower intensity AAP 6/26/2013 87 3000001047 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/developmental stage Induced during differentiation of primary preadipocytes to adipocytes. Expression increased from fetal to adult in retinal pigment epithelium. adipocyte BTO:0000443 Y Y ECO:0000006 PubMed:17032652 PubMed:16249444 PubMed:16705060 UniProtKB Difficult to capture developmental information. AAP 6/26/2013 87 3000001048 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/developmental stage Induced during differentiation of primary preadipocytes to adipocytes. Expression increased from fetal to adult in retinal pigment epithelium. pigmented layer of retina UBERON:0001782 retinal pigment epithelium BTO:0001177 fetus BTO:0000449 Y Y ECO:0000006 PubMed:17032652 PubMed:16249444 PubMed:16705060 UniProtKB Difficult to capture developmental information. AAP 6/26/2013 87 3000001049 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/polymorphism Genetic variations in PNPLA2 may be associated with plasma free fatty acids, triglycerides levels, and fasting glucose concentrations. fatty acid CHEBI:35366 Y Y UniProtKB Actual term would be 'plasma free fatty acids', but no ontology term found. AAP 6/26/2013 87 3000001050 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/polymorphism Genetic variations in PNPLA2 may be associated with plasma free fatty acids, triglycerides levels, and fasting glucose concentrations. triglyceride CHEBI:17855 Y Y UniProtKB Actual term would be 'triglyceride levels', but no ontology term found. AAP 6/26/2013 87 3000001051 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/polymorphism Genetic variations in PNPLA2 may be associated with plasma free fatty acids, triglycerides levels, and fasting glucose concentrations. glucose CHEBI:17234 Y Y UniProtKB Actual term would be 'fasting glucose concentrations' but no ontology term found. AAP 6/26/2013 87 3000001052 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/Involvement in disease Note=Genetic variations in PNPLA2 may be associated with risk of diabetes mellitus type 2. type 2 diabetes mellitus DOID:9352 Genetic variations in PNPLA2 may be associated with risk of diabetes mellitus type 2. Y Y UniProtKB AAP 6/26/2013 87 3000001053 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/Involvement in disease Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]: Neutral lipid storage disorder (NLSD) with myopathy but without ichthyosis. NLSDs are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Individuals with NLSDM did not show obesity, in spite of a defect in triglyceride degradation in fibroblasts and in marked triglyceride storage in liver, muscles, and other visceral cells. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:610717 neutral lipid storage disease DOID:0050729 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:17187067 UniProtKB AAP 6/26/2013 87 3000001054 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/Sequence caution The sequence CAC01132.1 (EMBL-CDS). Reason: erroneous initiation Y N UniProtKB AAP 6/26/2013 87 3000001055 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. blood platelet BTO:0000132 platelet CL:0000233 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB could not find platelet membrane AAP 1/9/2013 116 3000001056 Mike Q13258 5729 PTGDR Homo sapiens 9606 Comment/function Receptor for prostaglandin D2 (PGD2). The activity of this receptor is mainly mediated by G(s) proteins that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP. A mobilization of calcium is also observed, but without formation of inositol 1,4,5-trisphosphate (By similarity). Y N by similarity UniProtKB AAP 1/9/2013 116 3000001057 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/Involvement in disease Asthma-related traits 1 (ASRT1) [MIM:607277]: Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:607277 asthma DOID:2841 Asthma SNOMEDCT:195967001 Disease susceptibility is associated with variations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:15496624 UniProtKB SNOMED has various types of asthma and has the qualifier 'susceptible' AAP 5/1/2013 119 3000001058 Mike Q13258 5729 PTGDR Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y N potential UniProtKB AAP 1/9/2013 116 3000001059 Faith/Rose Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. ciliary muscle UBERON:0001605 ciliary muscle BTO:0000654 Longitudinal fiber of ciliary muscle SNOMEDCT:280863004 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB I find ciliary muscle, but not longitudinal. Does exist in SNOMED; ; Non-disease term from SNOMED AAP 1/9/2013 116 3000001060 Faith/Rose Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. ciliary muscle UBERON:0001605 ciliary muscle BTO:0000654 Entire circular fibers of ciliary muscle SNOMEDCT:280866007 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB circular not captured by Uberon or BRENDA; Non-disease term from SNOMED AAP 1/9/2013 116 3000001061 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. choroid UBERON:0001776 choroid BTO:0001829 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB AAP 1/9/2013 116 3000001062 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. ciliary epithelium UBERON:0001778 ciliary epithelium BTO:0001770 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB AAP 1/9/2013 116 3000001063 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. iris UBERON:0001769 iris BTO:0000653 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB AAP 1/9/2013 116 3000001064 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. small intestine UBERON:0002108 small intestine BTO:0000651 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB AAP 1/9/2013 116 3000001065 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/function Receptor for prostaglandin D2 (PGD2). Coupled to the G(i)-protein. Receptor activation may result in pertussis toxin-sensitive decreases in cAMP levels and Ca(2+) mobilization. PI3K signaling is also implicated in mediating PTGDR2 effects. PGD2 induced receptor internalization. CRTH2 internalization can be regulated by diverse kinases such as, PKC, PKA, ADRBK1/GRK2, GPRK5/GRK5 and GRK6. Receptor activation is responsible, at least in part, in immune regulation and allergic/inflammation responses. prostaglandin D receptor activity GO:0004956 Y N ECO:0000006 PubMed:11535533 PubMed:11208866 PubMed:17196174 UniProtKB GO MF Use=N AAP 1/9/2013 102 3000001066 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/Sequence caution The sequence AAD21055.1 (EMBL-CDS). Reason: frameshift Y N ECO:0000311 UniProtKB AAP 1/9/2013 102 3000001067 Mike Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y N potential UniProtKB AAP 1/9/2013 102 3000001068 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/subcellular location Internalized receptors colocalized with RAB11A. Y N ECO:0000311 UniProtKB AAP 1/9/2013 102 3000001069 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. basophil BTO:0000129 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB No Uberon term AAP 1/9/2013 102 3000001070 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. eosinophil BTO:0000399 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB No Uberon term AAP 1/9/2013 102 3000001071 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. TC2 cell BTO:0004794 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB No Uberon term AAP 1/9/2013 102 3000001072 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. Th2-cell BTO:0001679 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB No Uberon term AAP 1/9/2013 102 3000001073 Katie/Rose Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. blood UBERON:0000178 peripheral blood BTO:0000553 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB Uberon term more general AAP 1/9/2013 102 3000001074 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. Y N ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB Widespread expression AAP 1/9/2013 102 3000001075 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3000001076 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. colon UBERON:0001155 colon BTO:0000269 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3000001077 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3000001078 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3000001079 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. small intestine UBERON:0002108 small intestine BTO:0000651 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3000001080 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. spinal cord UBERON:0002240 spinal cord BTO:0001279 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3000001081 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. spleen UBERON:0002106 spleen BTO:0001281 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3000001082 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. stomach UBERON:0000945 stomach BTO:0001307 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3000001083 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. thymus UBERON:0002370 thymus BTO:0001374 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3000001084 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/developmental stage Expression in the amniotic fluid increases dramatically during weeks 12 to 25 of pregnancy. Levels decrease slowly after 25 weeks. amniotic fluid UBERON:0000173 amniotic fluid BTO:0000068 Y Y ECO:0000006 PubMed:8674187 UniProtKB Can't really capture development info easily; Non-disease term from SNOMED AAP 2/6/2013 132 3000001085 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/function Catalyzes the conversion of PGH2 to PGD2, a prostaglandin involved in smooth muscle contraction/relaxation and a potent inhibitor of platelet aggregation. Involved in a variety of CNS functions, such as sedation, NREM sleep and PGE2-induced allodynia, and may have an anti-apoptotic role in oligodendrocytes. Binds small non-substrate lipophilic molecules, including biliverdin, bilirubin, retinal, retinoic acid and thyroid hormone, and may act as a scavenger for harmful hydrophopic molecules and as a secretory retinoid and thyroid hormone transporter. Possibly involved in development and maintenance of the blood-brain, blood-retina, blood-aqueous humor and blood-testis barrier. It is likely to play important roles in both maturation and maintenance of the central nervous system and male reproductive system. Y N ECO:0000006 PubMed:9475419 PubMed:20667974 UniProtKB AAP 2/6/2013 132 3000001086 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/induction By IL1B/interleukin-1 beta and thyroid hormone. Probably induced by dexamethasone, dihydrotestosterone (DHT), progesterone, retinoic acid and retinal. Repressed by the Notch-Hes signaling pathway. Y N ECO:0000006 PubMed:9162076 UniProtKB Possible drug info AAP 2/6/2013 132 3000001087 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/miscellaneous It has been proposed that the urinary and serum levels may provide a sensitive indicator of renal damage in diabetes mellitus and hypertension. Elevated levels in the coronary circulation may also be associated with angina. Changes in charge and molecular weight microheterogeneity, due to modification of the N-linked oligosaccharides, may be associated with neurodegenerative disease and multiple sclerosis. Detected in meningioma but not in other brain tumors and may be considered a specific cell marker for meningioma. Expression levels in amniotic fluid are altered in abnormal pregnancies. Levels are lower in pregnancies with trisomic fetuses and fetuses with renal abnormalities. meningioma DOID:3565 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 132 3000001088 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/miscellaneous It has been proposed that the urinary and serum levels may provide a sensitive indicator of renal damage in diabetes mellitus and hypertension. Elevated levels in the coronary circulation may also be associated with angina. Changes in charge and molecular weight microheterogeneity, due to modification of the N-linked oligosaccharides, may be associated with neurodegenerative disease and multiple sclerosis. Detected in meningioma but not in other brain tumors and may be considered a specific cell marker for meningioma. Expression levels in amniotic fluid are altered in abnormal pregnancies. Levels are lower in pregnancies with trisomic fetuses and fetuses with renal abnormalities. amniotic fluid UBERON:0000173 amniotic fluid BTO:0000068 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 132 3000001089 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/miscellaneous It has been proposed that the urinary and serum levels may provide a sensitive indicator of renal damage in diabetes mellitus and hypertension. Elevated levels in the coronary circulation may also be associated with angina. Changes in charge and molecular weight microheterogeneity, due to modification of the N-linked oligosaccharides, may be associated with neurodegenerative disease and multiple sclerosis. Detected in meningioma but not in other brain tumors and may be considered a specific cell marker for meningioma. Expression levels in amniotic fluid are altered in abnormal pregnancies. Levels are lower in pregnancies with trisomic fetuses and fetuses with renal abnormalities. urine UBERON:0001088 urine BTO:0001419 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 132 3000001090 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y N ECO:0000311 UniProtKB AAP 2/6/2013 132 3000001091 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/subcellular location Golgi apparatus Golgi apparatus GO:0005794 SL-0132 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 132 3000001092 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/subcellular location Nucleus membrane nuclear membrane GO:0031965 SL-0182 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 132 3000001093 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/subcellular location Perinuclear region perinuclear region of cytoplasm GO:0048471 SL-0198 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 132 3000001094 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/subcellular location Rough endoplasmic reticulum rough endoplasmic reticulum GO:0005791 SL-0235 Y N ECO:0000311 UniProtKB AAP 2/6/2013 132 3000001095 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/subcellular location Detected on rough endoplasmic reticulum of arachnoid and menigioma cells. Localized to the nuclear envelope, Golgi apparatus, secretory vesicles and spherical cytoplasmic structures in arachnoid trabecular cells, and to circular cytoplasmic structures in meningeal macrophages and perivascular microglial cells. In oligodendrocytes, localized to the rough endoplasmic reticulum and nuclear envelope. In retinal pigment epithelial cells, localized to distinct cytoplasmic domains including the perinuclear region. Also secreted. arachnoid mater UBERON:0002362 arachnoid mater BTO:0001636 Y Y ECO:0000311 UniProtKB Maybe meningothelial cell (cell type ontology) AAP 2/6/2013 132 3000001096 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. Y N ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB In the male reproductive system AAP 2/6/2013 132 3000001097 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. leukocyte BTO:0000751 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB No Uberon term AAP 2/6/2013 132 3000001098 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. aqueous humor of eyeball UBERON:0001796 anterior chamber of the eye BTO:0002084 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB Uberon term is a better match. AAP 2/6/2013 132 3000001099 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. blood brain barrier UBERON:0000120 arachnoid barrier layer BTO:0002498 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP 2/6/2013 132 3000001100 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. ascitic fluid UBERON:0007795 ascites BTO:0000091 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP 2/6/2013 132 3000001101 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP 2/6/2013 132 3000001102 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. central nervous system UBERON:0001017 central nervous system BTO:0000227 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP 2/6/2013 132 3000001103 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. cerebrospinal fluid UBERON:0001359 cerebrospinal fluid BTO:0000237 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP 2/6/2013 132 3000001104 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. epididymis UBERON:0001301 epididymis BTO:0000408 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP 2/6/2013 132 3000001105 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. eye UBERON:0000970 eye BTO:0000439 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP 2/6/2013 132 3000001106 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP 2/6/2013 132 3000001107 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP 2/6/2013 132 3000001108 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. female gonad UBERON:0000992 ovary BTO:0000975 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP 2/6/2013 132 3000001109 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. fallopian tube UBERON:0003889 oviduct BTO:0000980 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP 2/6/2013 132 3000001110 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. prostate gland UBERON:0002367 prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP 2/6/2013 132 3000001111 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. seminal fluid UBERON:0006530 seminal vesicle fluid BTO:0002053 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP 2/6/2013 132 3000001112 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. serum UBERON:0001977 serum BTO:0001239 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP 2/6/2013 132 3000001113 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. lacrimal gland secretion UBERON:0001827 tear BTO:0001499 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP 2/6/2013 132 3000001114 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. testis UBERON:0000473 testis BTO:0001363 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP 2/6/2013 132 3000001115 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. urine UBERON:0001088 urine BTO:0001419 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP 2/6/2013 132 3000001116 Rose P41222 5730 PTGDS Homo sapiens 9606 EC 5.3.99.2 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 132 3000001117 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/function Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues. smooth muscle tissue UBERON:0001135 smooth muscle BTO:0001260 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3000001118 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/Sequence caution The sequence BAC05723.1 (EMBL-CDS). Reason: erroneous gene model prediction Y N ECO:0000311 UniProtKB AAP 1/9/2013 112 3000001119 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3000001120 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/tissue specificity Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. Y N ECO:0000311 UniProtKB not detected in liver brain AAP 1/9/2013 112 3000001121 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/tissue specificity Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. heart UBERON:0000948 heart BTO:0000562 Y N ECO:0000311 UniProtKB AAP 1/9/2013 112 3000001122 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/tissue specificity Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3000001123 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/tissue specificity Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3000001124 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/tissue specificity Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3000001125 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/tissue specificity Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. spleen UBERON:0002106 spleen BTO:0001281 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3000001126 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/tissue specificity Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. testis UBERON:0000473 testis BTO:0001363 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3000001127 Rose P43116 5732 PTGER2 Homo sapiens 9606 Comment/function Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. The subsequent raise in intracellular cAMP is responsible for the relaxing effect of this receptor on smooth muscle. Y N ECO:0000311 UniProtKB AAP 1/9/2013 112 3000001128 Rose P43116 5732 PTGER2 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3000001129 Rose P43116 5732 PTGER2 Homo sapiens 9606 Comment/tissue specificity Placenta and lung. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3000001130 Rose P43116 5732 PTGER2 Homo sapiens 9606 Comment/tissue specificity Placenta and lung. placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3000001131 Mike P43115 5733 PTGER3 Homo sapiens 9606 Comment/function Receptor for prostaglandin E2 (PGE2); the EP3 receptor may be involved in inhibition of gastric acid secretion, modulation of neurotransmitter release in central and peripheral neurons, inhibition of sodium and water reabsorption in kidney tubulus and contraction in uterine smooth muscle. The activity of this receptor can couple to both the inhibition of adenylate cyclase mediated by G-I proteins, and to an elevation of intracellular calcium. The various isoforms have identical ligand binding properties but can interact with different second messenger systems (By similarity). Y N by similarity UniProtKB AAP 1/9/2013 131 3000001132 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y N ECO:0000311 UniProtKB AAP 1/9/2013 131 3000001133 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. artery UBERON:0001637 artery BTO:0000573 Y Y ECO:0000006 PubMed:18023986 UniProtKB "mammary artery" term (or synonym) not available AAP 1/9/2013 131 3000001134 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. gastrointestinal system mucosa UBERON:0004786 fundic mucosa BTO:0004109 Y Y ECO:0000006 PubMed:18023986 UniProtKB AAP 1/9/2013 131 3000001135 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. gastrointestinal system mucosa UBERON:0004786 gastric mucosa BTO:0001308 Y Y ECO:0000006 PubMed:18023986 UniProtKB AAP 1/9/2013 131 3000001136 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:18023986 UniProtKB AAP 1/9/2013 131 3000001137 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. pancreas UBERON:0001264 pancreas BTO:0000988 Y Y ECO:0000006 PubMed:18023986 UniProtKB AAP 1/9/2013 131 3000001138 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. lung blood vessel UBERON:0003512 pulmonary vein BTO:0001799 Y Y ECO:0000006 PubMed:18023986 UniProtKB AAP 1/9/2013 131 3000001139 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. small intestine UBERON:0002108 small intestine BTO:0000651 Y Y ECO:0000006 PubMed:18023986 UniProtKB AAP 1/9/2013 131 3000001140 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/Caution Was originally designated as the EP2 subtype. Y N ECO:0000311 UniProtKB AAP 2/6/2013 124 3000001141 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/function Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. Has a relaxing effect on smooth muscle. May play an important role in regulating renal hemodynamics, intestinal epithelial transport, adrenal aldosterone secretion, and uterine function. smooth muscle tissue UBERON:0001135 smooth muscle BTO:0001260 Y Y ECO:0000311 UniProtKB Tissue info not necessariy linked to PMID source. AAP 2/6/2013 124 3000001142 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3000001143 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. Y N ECO:0000311 UniProtKB Not found in liver AAP 2/6/2013 124 3000001144 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. heart UBERON:0000948 heart BTO:0000562 Y N ECO:0000311 UniProtKB Not found in liver, heart, retina oe skeletal muscle. AAP 2/6/2013 124 3000001145 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. Y N ECO:0000311 UniProtKB Not found in liver, heart, retina oe skeletal muscle. AAP 2/6/2013 124 3000001146 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3000001147 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. blood UBERON:0000178 hematopoietic cell BTO:0000574 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3000001148 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. intestine UBERON:0000160 intestine BTO:0000648 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3000001149 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3000001150 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3000001151 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. thymus UBERON:0002370 thymus BTO:0001374 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3000001152 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. uterus UBERON:0000995 uterus BTO:0001424 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3000001153 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. vasculature UBERON:0002049 vasculature BTO:0003718 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3000001154 Mike O14684 9536 PTGES Homo sapiens 9606 Comment/function Catalyzes the oxidoreduction of prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2). prostaglandin-E synthase activity GO:0050220 DRUG METABOLISM, POOR, CYP2C19-RELATED Y N ECO:0000006 PubMed:18682561 UniProtKB GO MF Use=N; already in GO AAP 2/6/2013 100 3000001155 Mike O14684 9536 PTGES Homo sapiens 9606 Comment/induction By p53/TP53. Y N ECO:0000006 PubMed:9305847 UniProtKB Try again later during interaction curation. AAP 2/6/2013 100 3000001156 Mike O14684 9536 PTGES Homo sapiens 9606 Comment/subcellular location Membrane;Multi-pass membrane protein membrane GO:0016020 SL-0162 Y N ECO:0000311 UniProtKB already in GO AAP 2/6/2013 100 3000001157 Mike O14684 9536 PTGES Homo sapiens 9606 EC 5.3.99.3 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 100 3000001158 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. heart UBERON:0000948 heart BTO:0000562 fetus BTO:0000449 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3000001159 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/function Isomerase that catalyzes the conversion of unstable intermediate of prostaglandin E2 H2 (PGH2) into the more stable prostaglandin E2 (PGE2) form. May also have transactivation activity toward IFN-gamma (IFNG), possibly via an interaction with CEBPB; however, the relevance of transcription activation activity remains unclear. prostaglandin-E synthase activity GO:0050220 Y N ECO:0000311 UniProtKB GO MF Use=Y AAP 2/6/2013 110 3000001160 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/pathway Lipid metabolism; prostaglandin biosynthesis. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 110 3000001161 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/pathway Lipid metabolism; prostaglandin biosynthesis. prostaglandin biosynthetic process GO:0001516 UPA00436 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 110 3000001162 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/Sequence caution The sequence CAI13822.1 (EMBL-CDS). Reason: erroneous gene model prediction Y N ECO:0000311 UniProtKB AAP 2/6/2013 110 3000001163 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/subcellular location Perinuclear region perinuclear region of cytoplasm GO:0048471 SL-0198 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 110 3000001164 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/subcellular location Synthetized as a Golgi membrane-bound protein, which is further cleaved into the predominant soluble truncated form. The truncated form is cytoplasmic and is enriched in the perinuclear region. Y N ECO:0000311 UniProtKB AAP 2/6/2013 110 3000001165 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. colorectal cancer DOID:9256 Y Y ECO:0000006 PubMed:11866447 UniProtKB Overexpressed in colorectal cancer AAP 2/6/2013 110 3000001166 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. Y N ECO:0000006 PubMed:11866447 UniProtKB but not in the aorta AAP 2/6/2013 110 3000001167 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. Y N ECO:0000006 PubMed:11866447 UniProtKB but not in the thymus or lung AAP 2/6/2013 110 3000001168 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. apex of heart UBERON:0002098 heart BTO:0000562 Y Y ECO:0000006 PubMed:11866447 UniProtKB Uberon term is more specific. AAP 2/6/2013 110 3000001169 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. Y N ECO:0000006 PubMed:11866447 UniProtKB Widely expressed AAP 2/6/2013 110 3000001170 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. cardiac atrium UBERON:0002081 atrium BTO:0000903 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3000001171 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. brain UBERON:0000955 brain BTO:0000142 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3000001172 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. cerebellum UBERON:0002037 cerebellum BTO:0000232 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3000001173 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. frontal cortex UBERON:0001870 frontal lobe BTO:0000484 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3000001174 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3000001175 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. cardiac ventricle UBERON:0002082 heart ventricle BTO:0000862 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3000001176 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. septum UBERON:0003037 interventricular septum BTO:0002483 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3000001177 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3000001178 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. lymph node UBERON:0000029 lymph node BTO:0000784 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3000001179 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. occipital lobe UBERON:0002021 occipital lobe BTO:0000293 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3000001180 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. parietal lobe UBERON:0001872 parietal lobe BTO:0001001 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3000001181 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3000001182 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. trachea UBERON:0003126 trachea BTO:0001388 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3000001183 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 EC 5.3.99.3 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 110 3000001184 Faith Q15185 10728 PTGES3 Homo sapiens 9606 Comment/function Molecular chaperone that localizes to genomic response elements in a hormone-dependent manner and disrupts receptor-mediated transcriptional activation, by promoting disassembly of transcriptional regulatory complexes. Y N ECO:0000006 PubMed:11274138 PubMed:12077419 PubMed:10922363 UniProtKB AAP 2/6/2013 125 3000001185 Faith Q15185 10728 PTGES3 Homo sapiens 9606 Comment/pathway Lipid metabolism; prostaglandin biosynthesis. lipid metabolic process GO:0006629 UPA00436 Y N ECO:0000311 UniProtKB AAP 2/6/2013 125 3000001186 Faith Q15185 10728 PTGES3 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y N ECO:0000311 UniProtKB AAP 2/6/2013 125 3000001187 Faith Q15185 10728 PTGES3 Homo sapiens 9606 EC 5.3.99.3 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 125 3000001188 Mike P43088 5737 PTGFR Homo sapiens 9606 Comment/function Receptor for prostaglandin F2-alpha (PGF2-alpha). The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. Initiates luteolysis in the corpus luteum (By similarity). Y N by similarity UniProtKB AAP 1/9/2013 120 3000001189 Rose P43088 5737 PTGFR Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y N ECO:0000311 UniProtKB AAP 1/9/2013 120 3000001190 Rose P43119 5739 PTGIR Homo sapiens 9606 Comment/function Receptor for prostacyclin (prostaglandin I2 or PGI2). The activity of this receptor is mediated by G(s) proteins which activate adenylate cyclase. Y N ECO:0000311 UniProtKB AAP 1/9/2013 125 3000001191 Rose P43119 5739 PTGIR Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y N ECO:0000311 UniProtKB AAP 1/9/2013 125 3000001192 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/function Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2). Y N ECO:0000311 UniProtKB AAP 2/6/2013 129 3000001193 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Single-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N ECO:0000311 UniProtKB AAP 2/6/2013 129 3000001194 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. heart UBERON:0000948 heart BTO:0000562 Y Y ECO:0000311 UniProtKB particularly abundant AAP 2/6/2013 129 3000001195 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000311 UniProtKB particularly abundant AAP 2/6/2013 129 3000001196 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. female gonad UBERON:0000992 ovary BTO:0000975 Y Y ECO:0000311 UniProtKB particularly abundant AAP 2/6/2013 129 3000001197 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. prostate gland UBERON:0002367 prostate gland BTO:0001129 Y Y ECO:0000311 UniProtKB particularly abundant AAP 2/6/2013 129 3000001198 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y ECO:0000311 UniProtKB particularly abundant AAP 2/6/2013 129 3000001199 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. Y N ECO:0000311 UniProtKB Widely expressed; No references given for tissue info, but there is information in BRENDA. AAP 2/6/2013 129 3000001200 Faith Q16647 5740 PTGIS Homo sapiens 9606 EC 5.3.99.4 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 129 3000001201 Mike Q14914 22949 PTGR1 Homo sapiens 9606 Comment/function Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-oxo-PGE1, 15-oxo-PGE2 and 15-oxo-PGE2-alpha. Has no activity towards PGE1, PGE2 and PGE2-alpha (By similarity). Catalyzes the conversion of leukotriene B4 into its biologically less active metabolite, 12-oxo-leukotriene B4. This is an initial and key step of metabolic inactivation of leukotriene B4. Y N by similarity UniProtKB AAP 1/9/2013 125 3000001202 Katie Q14914 22949 PTGR1 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 125 3000001203 Katie Q14914 22949 PTGR1 Homo sapiens 9606 Comment/tissue specificity High expression in the kidney, liver, and intestine but not in leukocytes. Y N ECO:0000006 PubMed:8576264 UniProtKB but not in leukocytes AAP 1/9/2013 125 3000001204 Katie Q14914 22949 PTGR1 Homo sapiens 9606 Comment/tissue specificity High expression in the kidney, liver, and intestine but not in leukocytes. intestine UBERON:0000160 intestine BTO:0000648 Y Y ECO:0000006 PubMed:8576264 UniProtKB AAP 1/9/2013 125 3000001205 Katie Q14914 22949 PTGR1 Homo sapiens 9606 Comment/tissue specificity High expression in the kidney, liver, and intestine but not in leukocytes. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:8576264 UniProtKB AAP 1/9/2013 125 3000001206 Katie Q14914 22949 PTGR1 Homo sapiens 9606 Comment/tissue specificity High expression in the kidney, liver, and intestine but not in leukocytes. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:8576264 UniProtKB AAP 1/9/2013 125 3000001207 Katie Q14914 22949 PTGR1 Homo sapiens 9606 EC 1.3.1.- Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 125 3000001208 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/function May play an important role in regulating or promoting cell proliferation in some normal and neoplastically transformed cells. Y N ECO:0000311 UniProtKB AAP 2/6/2013 151 3000001209 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/miscellaneous This enzyme is the target of nonsteroidal anti-inflammatory drugs such as aspirin. acetylsalicylic acid CHEBI:15365 Y Y ECO:0000311 UniProtKB Possible druf info AAP 2/6/2013 151 3000001210 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/miscellaneous This enzyme acts both as a dioxygenase and as a peroxidase. Y N ECO:0000311 UniProtKB AAP 2/6/2013 151 3000001211 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/pathway Lipid metabolism; prostaglandin biosynthesis. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 151 3000001212 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/pathway Lipid metabolism; prostaglandin biosynthesis. prostaglandin biosynthetic process GO:0001516 UPA00436 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 151 3000001213 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/Sequence caution The sequence CAI14716.1 (EMBL-CDS). Reason: erroneous gene model prediction Y N ECO:0000311 UniProtKB AAP 2/6/2013 151 3000001214 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 151 3000001215 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-enclosed organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB Microsome obsolete GO term AAP 2/6/2013 151 3000001216 Rose P23219 5742 PTGS1 Homo sapiens 9606 EC 1.14.99.1 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 151 3000001217 Rose P35354 5743 PTGS2 Homo sapiens 9606 Comment/function Mediates the formation of prostaglandins from arachidonate. May have a role as a major mediator of inflammation and/or a role for prostanoid signaling in activity-dependent plasticity. prostaglandin biosynthetic process GO:0001516 Y N ECO:0000006 PubMed:16373578 UniProtKB AAP 2/6/2013 143 3000001218 Rose P35354 5743 PTGS2 Homo sapiens 9606 Comment/induction By cytokines and mitogens. Y N ECO:0000311 UniProtKB Possible drug info AAP 2/6/2013 143 3000001219 Rose P35354 5743 PTGS2 Homo sapiens 9606 Comment/miscellaneous This enzyme is the target of nonsteroidal anti-inflammatory drugs such as aspirin. acetylsalicylic acid CHEBI:15365 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 3000001220 Rose P35354 5743 PTGS2 Homo sapiens 9606 Comment/miscellaneous This enzyme acts both as a dioxygenase and as a peroxidase. Y N ECO:0000311 UniProtKB AAP 2/6/2013 143 3000001221 Rose P35354 5743 PTGS2 Homo sapiens 9606 Comment/pathway Lipid metabolism; prostaglandin biosynthesis. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 3000001222 Rose P35354 5743 PTGS2 Homo sapiens 9606 Comment/pathway Lipid metabolism; prostaglandin biosynthesis. prostaglandin biosynthetic process GO:0001516 UPA00436 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 3000001223 Rose P35354 5743 PTGS2 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 3000001224 Rose P35354 5743 PTGS2 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-enclosed organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB Microsome obsolete GO term AAP 2/6/2013 143 3000001225 Rose P35354 5743 PTGS2 Homo sapiens 9606 EC 1.14.99.1 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 143 3000001226 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/function Acyl-CoA synthetase probably involved in bile acid metabolism. Proposed to activate C27 precurors of bile acids to their CoA thioesters derivatives before side chain cleavage via peroxisomal beta-oxidation occurs. In vitro, activates 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol. Does not utilize C24 bile acids as substrates. In vitro, also activates long- and branched-chain fatty acids and may have additional roles in fatty acid metabolism. May be involved in translocation of long-chain fatty acids (LFCA) across membranes (By similarity). Y N ECO:0000006 PubMed:11980911 UniProtKB nothing specific enough to capture AAP 2/6/2013 106 3000001227 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/subcellular location Peripheral membrane associated with the lumenal side of peroxisomes. extrinsic to intraperoxisomal membrane GO:0005780 Y Y ECO:0000311 UniProtKB more specific than existing GO term AAP 2/6/2013 106 3000001228 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein integral to endoplasmic reticulum membrane GO:0030176 SL-0097 Y Y ECO:0000311 UniProtKB more specific than existing GO term AAP 2/6/2013 106 3000001229 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/subcellular location Peroxisome membrane;Multi-pass membrane protein integral to peroxisomal membrane GO:0005779 SL-0203 Y N ECO:0000311 UniProtKB already in GO AAP 2/6/2013 106 3000001230 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, kidney, placenta and pancreas. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:10198260 UniProtKB AAP 2/6/2013 106 3000001231 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, kidney, placenta and pancreas. liver UBERON:0002107 liver BTO:0000759 Y Y ECO:0000006 PubMed:10198260 UniProtKB AAP 2/6/2013 106 3000001232 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, kidney, placenta and pancreas. pancreas UBERON:0001264 pancreas BTO:0000988 Y Y ECO:0000006 PubMed:10198260 UniProtKB AAP 2/6/2013 106 3000001233 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, kidney, placenta and pancreas. placenta UBERON:0001987 placenta BTO:0001078 Y Y ECO:0000006 PubMed:10198260 UniProtKB AAP 2/6/2013 106 3000001234 Mike O14975 11001 SLC27A2 Homo sapiens 9606 EC 6.2.1.- Y Y ECO:0000311 EC number UniProtKB This EC code describes a class of reactions. AAP 2/6/2013 106 3000001235 Rose P35610 6646 SOAT1 Homo sapiens 9606 Comment/function Catalyzes the formation of fatty acid-cholesterol esters. Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase. Y N ECO:0000311 UniProtKB AAP 2/6/2013 124 3000001236 Rose P35610 6646 SOAT1 Homo sapiens 9606 Comment/induction Highly activated by the presence of cholesterol. Y N ECO:0000311 UniProtKB Possible drug info AAP 2/6/2013 124 3000001237 Rose P35610 6646 SOAT1 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y N ECO:0000311 UniProtKB AAP 2/6/2013 124 3000001238 Rose P35610 6646 SOAT1 Homo sapiens 9606 EC 2.3.1.26 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 124 3000001239 Rose P21731 6915 TBXA2R Homo sapiens 9606 Comment/function Receptor for thromboxane A2 (TXA2), a potent stimulator of platelet aggregation. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system. In the kidney, the binding of TXA2 to glomerular TP receptors causes intense vasoconstriction. Activates phospholipase C. Isoform 1 activates adenylyl cyclase. Isoform 2 inhibits adenylyl cyclase. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000006 PubMed:8613548 UniProtKB Tissue info not necessariy linked to PMID source. AAP 1/9/2013 138 3000001240 Rose P21731 6915 TBXA2R Homo sapiens 9606 Comment/Involvement in disease Bleeding disorder, platelet-type 13 (BDPLT13) [MIM:614009]: A disorder characterized by reduced platelet aggregation and a tendency to mild mucocutaneous bleeding. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:614009 blood platelet disease DOID:2218 Platelet disorder SNOMEDCT:22716005 Disease susceptibility is associated with variations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:8613548 PubMed:7929844 UniProtKB AAP 5/1/2013 141 3000001241 Rose P21731 6915 TBXA2R Homo sapiens 9606 Comment/Sequence caution The sequence AAA58957.1 (EMBL-CDS). Reason: frameshift Y N ECO:0000311 UniProtKB AAP 1/9/2013 138 3000001242 Rose P21731 6915 TBXA2R Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 138 3000001243 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/Caution It is uncertain whether Met-1 is the initiator. An alternative upstream Met is found in primates, but not in other mammals. Y N ECO:0000311 UniProtKB AAP 2/6/2013 147 3000001244 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/Involvement in disease Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]: Rare autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Aregenerative anemia is characterized by bone marrow failure, so that functional marrow cells are regenerated slowly or not at all. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:231095 bone disease DOID:0080001 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:6101498 PubMed:18264100 UniProtKB HDO term more general than OMIM. AAP 5/1/2013 150 3000001245 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/Involvement in disease Thromboxane synthetase deficiency (TBXAS1 deficiency) [MIM:274180]: Characterized by hemorrhagic diathesis. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:274180 blood platelet disease DOID:2218 Thromboxane synthetase deficiency SNOMEDCT:234477002 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:6101498 UniProtKB AAP 5/1/2013 150 3000001246 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/Sequence caution The sequence AAH41157.1 (EMBL-CDS). Reason: erroneous initiation Y N ECO:0000311 UniProtKB AAP 2/6/2013 147 3000001247 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 147 3000001248 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. lung fibroblast BTO:0000764 Y Y ECO:0000311 UniProtKB No Uberon term AAP 2/6/2013 147 3000001249 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. macrophage BTO:0000801 Y Y ECO:0000311 UniProtKB No Uberon term AAP 2/6/2013 147 3000001250 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. blood UBERON:0000178 blood platelet BTO:0000132 Y Y ECO:0000311 UniProtKB No Uberon term (only parent term blood) AAP 2/6/2013 147 3000001251 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. kidney UBERON:0002113 kidney BTO:0000671 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 147 3000001252 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. lung UBERON:0002048 lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 147 3000001253 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. spleen UBERON:0002106 spleen BTO:0001281 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 147 3000001254 Rose P24557 6916 TBXAS1 Homo sapiens 9606 EC 5.3.99.5 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 147 3000001255