{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P22309","secondaryAccessions":["A6NJC3","B8K286"],"uniProtkbId":"UD11_HUMAN","entryAudit":{"firstPublicDate":"1991-08-01","lastAnnotationUpdateDate":"2026-11-04","lastSequenceUpdateDate":"1991-08-01","entryVersion":242,"sequenceVersion":1},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15472229"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"18719240"}],"value":"UDP-glucuronosyltransferase 1A1"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15231852"}],"value":"UGT1A1"}],"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004206"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004212"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18674515"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18719240"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23288867"}],"value":"2.4.1.17"}]},"alternativeNames":[{"fullName":{"value":"Bilirubin-specific UDPGT isozyme 1"},"shortNames":[{"value":"hUG-BR1"}]},{"fullName":{"value":"UDP-glucuronosyltransferase 1-1"},"shortNames":[{"value":"UDPGT 1-1"},{"value":"UGT1*1"},{"value":"UGT1-01"},{"value":"UGT1.1"}]},{"fullName":{"value":"UDP-glucuronosyltransferase 1A isoform 1"}}],"flag":"Precursor"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:12530"}],"value":"UGT1A1"},"synonyms":[{"value":"GNT1"},{"value":"UGT1"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12181437"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15231852"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17187418"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004206"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004212"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18052087"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18674515"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18719240"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19545173"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20610558"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21422672"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23288867"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24525562"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38211441"}],"value":"UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:12181437, PubMed:15472229, PubMed:18004206, PubMed:18004212, PubMed:18719240, PubMed:19830808, PubMed:23288867, PubMed:15231852, PubMed:21422672, PubMed:38211441). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:12181437, PubMed:18004206, PubMed:18004212). Catalyzes the glucuronidation of endogenous estrogen hormones such as estradiol, estrone and estriol (PubMed:15472229, PubMed:18719240, PubMed:23288867). Involved in the glucuronidation of bilirubin, a degradation product occurring in the normal catabolic pathway that breaks down heme in vertebrates (PubMed:17187418, PubMed:18004206, PubMed:19830808, PubMed:24525562). Involved in the glucuronidation of arachidonic acid (AA) and AA-derived eicosanoids including 15-HETE, 20-HETE, PGB1 and F2-isoprostane (8-iso-PGF2alpha) (PubMed:15231852, PubMed:38211441). Involved in the glucuronidation of the phytochemical ferulic acid at the phenolic or the carboxylic acid group (PubMed:21422672). Also catalyzes the glucuronidation the isoflavones genistein, daidzein, glycitein, formononetin, biochanin A and prunetin, which are phytoestrogens with anticancer and cardiovascular properties (PubMed:18052087, PubMed:19545173). Involved in the glucuronidation of the AGTR1 angiotensin receptor antagonist losartan, a drug which can inhibit the effect of angiotensin II (PubMed:18674515). Involved in the biotransformation of 7-ethyl-10-hydroxycamptothecin (SN-38), the pharmacologically active metabolite of the anticancer drug irinotecan (PubMed:12181437, PubMed:18004212, PubMed:20610558)"}],"commentType":"FUNCTION","molecule":"Isoform 1"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17187418"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004212"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20610558"}],"value":"Lacks UGT glucuronidation activity but acts as a negative regulator of isoform 1"}],"commentType":"FUNCTION","molecule":"Isoform 2"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"glucuronate acceptor + UDP-alpha-D-glucuronate = acceptor beta-D-glucuronoside + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:21032"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:132367"},{"database":"ChEBI","id":"CHEBI:132368"}],"ecNumber":"2.4.1.17","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12181437"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15231852"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004206"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004212"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18674515"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18719240"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21422672"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23288867"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38211441"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:21033"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"12181437"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"15231852"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"15472229"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"18004206"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"18004212"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"18719240"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"19830808"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"21422672"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"23288867"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"38211441"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"17beta-estradiol + UDP-alpha-D-glucuronate = 17beta-estradiol 3-O-(beta-D-glucuronate) + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:52460"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:16469"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:136641"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18719240"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23288867"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:52461"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"15472229"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"18719240"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"19830808"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"23288867"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"2-hydroxyestrone + UDP-alpha-D-glucuronate = 2-hydroxyestrone 3-O-(beta-D-glucuronate) + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:53048"},{"database":"ChEBI","id":"CHEBI:1156"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:136967"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:53049"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"15472229"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"2-hydroxy-17beta-estradiol + UDP-alpha-D-glucuronate = 2-hydroxy-17beta-estradiol 3-O-(beta-D-glucuronate) + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:53004"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:28744"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:136931"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:53005"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"15472229"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"2-methoxy-17beta-estradiol + UDP-alpha-D-glucuronate = 2-methoxy-17beta-estradiol 3-O-(beta-D-glucuronate) + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:53072"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:28955"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:136974"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:53073"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"15472229"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"17alpha-estradiol + UDP-alpha-D-glucuronate = 17alpha-estradiol 3-O-(beta-D-glucuronate) + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:52868"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:17160"},{"database":"ChEBI","id":"CHEBI:57529"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18719240"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:52869"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"18719240"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"16beta,17beta-estriol + UDP-alpha-D-glucuronate = 16beta,17beta-estriol 16-O-(beta-D-glucuronate) + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:52880"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:87620"},{"database":"ChEBI","id":"CHEBI:136886"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23288867"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:52881"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"23288867"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"losartan + UDP-alpha-D-glucuronate = losartan-2-N-beta-D-glucuronide + UDP","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:63720"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:149504"},{"database":"ChEBI","id":"CHEBI:149507"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18674515"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:63721"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"18674515"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"prunetin + UDP-alpha-D-glucuronate = prunetin-4'-O-beta-D-glucuronide + UDP","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:63588"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:147403"},{"database":"ChEBI","id":"CHEBI:147404"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18052087"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:63589"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"18052087"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"SN-38 + UDP-alpha-D-glucuronate = SN-38 O-beta-D-glucuronide + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:63696"},{"database":"ChEBI","id":"CHEBI:8988"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:149482"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12181437"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004212"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:63697"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"12181437"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"18004212"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"(4Z,15Z)-bilirubin IXalpha + UDP-alpha-D-glucuronate = (4Z,15Z)-bilirubin IXalpha C12-beta-D-glucuronoside + UDP","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:75099"},{"database":"ChEBI","id":"CHEBI:57977"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:229705"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24525562"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:75100"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24525562"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"(4Z,15Z)-bilirubin IXalpha + UDP-alpha-D-glucuronate = (4Z,15Z)-bilirubin IXalpha C8-beta-D-glucuronoside + UDP","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:79067"},{"database":"ChEBI","id":"CHEBI:57977"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:229704"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24525562"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:79068"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24525562"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"(4Z,15Z)-bilirubin IXalpha C8-beta-D-glucuronoside + UDP-alpha-D-glucuronate = (4Z,15Z)-bilirubin IXalpha C8,C12-beta-D-bisglucuronoside + UDP","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:79071"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:229704"},{"database":"ChEBI","id":"CHEBI:229706"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24525562"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:79072"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24525562"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"(4Z,15Z)-bilirubin IXalpha C12-beta-D-glucuronoside + UDP-alpha-D-glucuronate = (4Z,15Z)-bilirubin IXalpha C8,C12-beta-D-bisglucuronoside + UDP","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:79075"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:229705"},{"database":"ChEBI","id":"CHEBI:229706"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24525562"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:79076"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24525562"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"8-iso-prostaglandin F2alpha + UDP-alpha-D-glucuronate = 8-iso-prostaglandin F2alpha-glucuronide + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:79907"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:77768"},{"database":"ChEBI","id":"CHEBI:229786"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38211441"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:79908"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"38211441"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"(5Z,8Z,11Z,14Z)-eicosatetraenoate + UDP-alpha-D-glucuronate = O-[(5Z),(8Z),(11Z),(14Z)-eicosatetraenoyl]-beta-D-glucuronate + UDP","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:79915"},{"database":"ChEBI","id":"CHEBI:32395"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:231327"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15231852"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:79916"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"15231852"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"15-hydroxy-(5Z,8Z,11Z,13E)-eicosatetraenoate + UDP-alpha-D-glucuronate = 15-O-(beta-D-glucuronosyl)-(5Z,8Z,11Z,14Z)-eicosatetraenoate + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:79919"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:78832"},{"database":"ChEBI","id":"CHEBI:231329"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15231852"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:79920"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"15231852"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"20-hydroxy-(5Z,8Z,11Z,14Z)-eicosatetraenoate + UDP-alpha-D-glucuronate = 20-O-(beta-D-glucuronosyl)-(5Z,8Z,11Z,14Z)-eicosatetraenoate + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:79927"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:76624"},{"database":"ChEBI","id":"CHEBI:231328"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15231852"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:79928"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"15231852"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"prostaglandin B1 + UDP-alpha-D-glucuronate = 15-O-(beta-D-glucuronosyl)-prostaglandin B1 + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:79935"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:133393"},{"database":"ChEBI","id":"CHEBI:231330"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15231852"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:79936"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"15231852"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"(E)-ferulate + UDP-alpha-D-glucuronate = (E)-4-O-(beta-D-glucuronosyl)-ferulate + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:79951"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:29749"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:231331"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21422672"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:79952"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"21422672"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"(E)-ferulate + UDP-alpha-D-glucuronate = (E)-ferulic acid beta-D-glucuronate ester + UDP","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:79955"},{"database":"ChEBI","id":"CHEBI:29749"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:231332"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21422672"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:79956"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"21422672"}]}]},{"commentType":"BIOPHYSICOCHEMICAL PROPERTIES","kineticParameters":{"maximumVelocities":[{"velocity":1080.0,"unit":"pmol/min/mg","enzyme":"enzyme with bilirubin as substrate","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004206"}]},{"velocity":255.0,"unit":"pmol/min/mg","enzyme":"enzyme with 4-methylumbelliferone as substrate","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004206"}]},{"velocity":274.0,"unit":"pmol/min/mg","enzyme":"enzyme with 1-naphthol as substrate","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004206"}]},{"velocity":767.0,"unit":"pmol/min/mg","enzyme":"enzyme with 17beta-estradiol as substrate","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004206"}]},{"velocity":93.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of 17beta-estradiol 3-O-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"velocity":3.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of estrone 3-O-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"velocity":1037.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of 2-hydroxy-17beta-estradiol 3-O-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"velocity":36.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of 2-hydroxy-17beta-estradiol 2-O-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"velocity":326.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of 2-hydroxy-estrone 3-O-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"velocity":19.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of 4-hydroxy-17beta-estradiol 3-O-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"velocity":42.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of 4-hydroxy-17beta-estradiol 4-O-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"velocity":34.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of 4-hydroxy-estrone 3-O-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"velocity":11.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of 4-hydroxy-estrone 4-O-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"velocity":222.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of 2-methoxy-17beta-estradiol 3-O-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"velocity":39.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of 2-methoxyestrone 3-O-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"velocity":19.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of 4-methoxy-17beta-estradiol 3-O-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"velocity":4.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of 4-methoxyestrone 3-O-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"velocity":704.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of 17beta-estradiol 3-O-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18719240"}]},{"velocity":115.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of 17alpha-estradiol 3-O-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18719240"}]},{"velocity":32.2,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of losartan N2-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18674515"}]},{"velocity":40.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of prunetin-4'-O-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18052087"}]},{"velocity":0.014,"unit":"pmol/min/mg","enzyme":"enzyme with 5alpha-dihydrotestosterone 17-O-(beta-D-glucuronate) as substrate, for the formation of 5alpha-dihydrotestosterone 17-O-[beta-D-glucuronosyl-(1->2)-glucuronate]","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16595710"}]},{"velocity":500.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of O-[(5Z),(8Z),(11Z),(14Z)-eicosatetraenoyl]-beta-D-glucuronate","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15231852"}]},{"velocity":1300.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of 15-O-(beta-D-glucuronosyl)-prostaglandin B1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15231852"}]},{"velocity":337.1,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of (E)-4-O-(beta-D-glucuronosyl)-ferulate","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21422672"}]},{"velocity":990.4,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of (E)-ferulic acid beta-D-glucuronate ester","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21422672"}]},{"velocity":33.4,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of SN-38 glucuronide","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12181437"}]},{"velocity":110.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of mycophenolate 7-O-glucuronide","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15470161"}]},{"velocity":30.0,"unit":"pmol/min/mg","enzyme":"enzyme for the formation of mycophenolic acid O-acyl-glucuronide","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15470161"}]}],"michaelisConstants":[{"constant":0.26,"unit":"uM","substrate":"bilirubin","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004206"}]},{"constant":70.0,"unit":"uM","substrate":"4-methylumbelliferone","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004206"}]},{"constant":23.0,"unit":"uM","substrate":"17beta-estradiol/estradiol (when assaying glucuronidation at position 3)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"constant":38.0,"unit":"uM","substrate":"estrone (when assaying glucuronidation at position 3)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"constant":165.0,"unit":"uM","substrate":"the formation of 2-hydroxy-17beta-estradiol 3-O-(beta-D-glucuronate)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"constant":15.0,"unit":"uM","substrate":"2-hydroxy-17beta-estradiol (when assaying glucuronidation at position 2)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"constant":19.0,"unit":"uM","substrate":"2-hydroxy-estrone (when assaying glucuronidation at position 3)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"constant":38.0,"unit":"uM","substrate":"4-hydroxy-17beta-estradiol (when assaying glucuronidation at position 3)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"constant":74.0,"unit":"uM","substrate":"4-hydroxy-17beta-estradiol (when assaying glucuronidation at position 4)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"constant":21.0,"unit":"uM","substrate":"4-hydroxy-estrone (when assaying glucuronidation at position 3)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"constant":19.0,"unit":"uM","substrate":"4-hydroxy-estrone (when assaying glucuronidation at position 4)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"constant":49.0,"unit":"uM","substrate":"2-methoxy-17beta-estradiol (when assaying glucuronidation at position 3)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"constant":49.0,"unit":"uM","substrate":"2-methoxyestrone (when assaying glucuronidation at position 3)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"constant":14.0,"unit":"uM","substrate":"4-methoxy-17beta-estradiol (when assaying glucuronidation at position 3)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"constant":103.0,"unit":"uM","substrate":"4-methoxyestrone (when assaying glucuronidation at position 3)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15472229"}]},{"constant":60.6,"unit":"uM","substrate":"17beta-estradiol/estradiol (when assaying glucuronidation at position 3)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18719240"}]},{"constant":11.2,"unit":"uM","substrate":"17alpha-estradiol/epiestradiol (when assaying glucuronidation at position 3)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18719240"}]},{"constant":37.9,"unit":"uM","substrate":"(5Z,8Z,11Z,14Z)-eicosatetraenoate","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15231852"}]},{"constant":42.7,"unit":"uM","substrate":"prostaglandin B1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15231852"}]},{"constant":1110.0,"unit":"uM","substrate":"(E)-ferulate (when assaying glucuronidation at the phenolic group)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21422672"}]},{"constant":830.0,"unit":"uM","substrate":"(E)-ferulate (when assaying glucuronidation at the carboxylic acid group)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21422672"}]},{"constant":21.5,"unit":"uM","substrate":"losartan (when assaying glucuronidation at position N2 of the tetrazole ring)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18674515"}]},{"constant":7.5,"unit":"uM","substrate":"SN-38 (when assaying glucuronidation at position 10)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12181437"}]},{"constant":410.0,"unit":"uM","substrate":"mycophenolate (when assaying glucuronidation at position 7)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15470161"}]},{"constant":320.0,"unit":"uM","substrate":"mycophenolate (when assaying glucuronidation at position 6')","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15470161"}]}],"note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"16595710"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"18052087"}],"value":"Some kinetic parameters were assessed using commercial enzymes, which may represent a mix of both active and inactive protein forms, and therefore modify the kinetic values."}]}}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17179145"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17187418"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20610558"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"20610558"}],"value":"Homodimer (PubMed:17179145). Homooligomer (Probable). Interacts with UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9 and UGT1A10 to form heterodimers (PubMed:17179145). Isoform 1 interacts with isoform 2/i2 suggesting that oligomerization is involved in negative regulation of transferase activity by isoform 2 (PubMed:17187418, PubMed:20610558). Isoform 1 also interacts with respective i2 isoforms of UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9 and UGT1A10 (PubMed:20610558)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P22309","intActId":"EBI-3940292"},"interactantTwo":{"uniProtKBAccession":"Q9BSJ8","geneName":"ESYT1","intActId":"EBI-355956"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P22309-1","intActId":"EBI-9482608"},"interactantTwo":{"uniProtKBAccession":"P22309-2","geneName":"UGT1A1","intActId":"EBI-9490970"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P22309-2","intActId":"EBI-9490970"},"interactantTwo":{"uniProtKBAccession":"O60656-1","geneName":"UGT1A9","intActId":"EBI-9486373"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17179145"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17187418"}],"value":"Endoplasmic reticulum membrane","id":"SL-0097"},"topology":{"evidences":[{"evidenceCode":"ECO:0000255"}],"value":"Single-pass membrane protein","id":"SL-9904"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17187418"}],"value":"Cytoplasm, perinuclear region","id":"SL-0198"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"18004212"}],"value":"i1"}],"isoformIds":["P22309-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"18004212"}],"value":"i2"},{"value":"UGT1A1s"}],"isoformIds":["P22309-2"],"sequenceIds":["VSP_053958"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1339448"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17187418"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004212"}],"value":"Expressed in liver, colon and small intestine. Not expressed in kidney, esophagus and skin"}],"commentType":"TISSUE SPECIFICITY","molecule":"Isoform 1"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1339448"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17187418"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004212"}],"value":"Expressed in liver, colon, small intestine and kidney. Not expressed in esophagus and skin"}],"commentType":"TISSUE SPECIFICITY","molecule":"Isoform 2"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19414484"}],"value":"Genetic variation in UGT1A1 defines the bilirubin serum levels quantitative trait locus 1 (BILIQTL1) [MIM:601816]. Variation in serum bilirubin is associated with altered cardiovascular disease risk and drug metabolism"}],"commentType":"POLYMORPHISM"},{"commentType":"DISEASE","disease":{"diseaseId":"Gilbert syndrome","diseaseAccession":"DI-01659","acronym":"GILBS","description":"Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints.","diseaseCrossReference":{"database":"MIM","id":"143500"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12139570"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12181437"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17496722"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7715297"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9627603"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Transient familial neonatal hyperbilirubinemia","diseaseAccession":"DI-02379","acronym":"HBLRTFN","description":"A condition characterized by excessive concentration of bilirubin in the blood, which may lead to jaundice. Breast milk jaundice is a common problem in nursing infants.","diseaseCrossReference":{"database":"MIM","id":"237900"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11061796"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12181437"}]},"note":{"texts":[{"value":"The disease may be caused by variants affecting the gene represented in this entry. The defect has been ascribed to various breast milk substances, but the component or combination of components that is responsible remains unclear. Defects of UGT1A1 are an underlying cause of the prolonged unconjugated hyperbilirubinemia associated with breast milk. One or more components in the milk may trigger the jaundice in infants who have such mutations. Mutations are identical to those detected in patients with Gilbert syndrome, a risk factor of neonatal non-physiologic hyperbilirubinemia and a genetic factor in fasting hyperbilirubinemia"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Crigler-Najjar syndrome 1","diseaseAccession":"DI-01449","acronym":"CN1","description":"Patients have severe hyperbilirubinemia and usually die of kernicterus (bilirubin accumulation in the basal ganglia and brainstem nuclei) within the first year of life. CN1 inheritance is autosomal recessive.","diseaseCrossReference":{"database":"MIM","id":"218800"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1634050"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17229650"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23992562"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7906695"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7989045"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7989595"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8226884"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Crigler-Najjar syndrome 2","diseaseAccession":"DI-01450","acronym":"CN2","description":"Patients have less severe hyperbilirubinemia and usually survive into adulthood without neurologic damage. Phenobarbital, which induces the partially deficient glucuronyl transferase, can diminish the jaundice. CN2 inheritance is autosomal dominant.","diseaseCrossReference":{"database":"MIM","id":"606785"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11370628"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12181437"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12402338"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14550264"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17229650"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004206"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23099197"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23992562"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7989595"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8276413"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8280139"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8706880"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9621515"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9639672"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004212"}],"value":"UGT1A1 isoform is part of the UGT1A complex locus which displays alternative use of promoters, first exons and terminal exons. The locus is defined by 13 first exons, which are alternatively spliced to 3 other common exons and 2 alternative terminal exons 5. From the 27 possible mRNA isoforms, 9 produce functionally active polypeptides (UGT1A1, 1A3, 1A4, 1A5, 1A6, 1A7, 1A8, 1A9 and 1A10) called isoforms 1 (i1). Use of an alternative exon 5 (5b) as terminal exon is leading to 9 additional alternatively spliced products termed isoforms i2 and which lack transferase activity"}],"commentType":"MISCELLANEOUS"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the UDP-glycosyltransferase family"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous gene model prediction","sequence":"AAA61247.1","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous gene model prediction","sequence":"AAF03522.2","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"WEB RESOURCE","resourceName":"Wikipedia","resourceUrl":"https://en.wikipedia.org/wiki/Glucuronosyltransferase","ftp":false,"note":"Glucuronosyltransferase entry"}],"features":[{"type":"Signal","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":25,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Chain","location":{"start":{"value":26,"modifier":"EXACT"},"end":{"value":533,"modifier":"EXACT"}},"description":"UDP-glucuronosyltransferase 1A1","featureId":"PRO_0000036000"},{"type":"Transmembrane","location":{"start":{"value":491,"modifier":"EXACT"},"end":{"value":507,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Glycosylation","location":{"start":{"value":102,"modifier":"EXACT"},"end":{"value":102,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19159218"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":295,"modifier":"EXACT"},"end":{"value":295,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":347,"modifier":"EXACT"},"end":{"value":347,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":""},{"type":"Alternative sequence","location":{"start":{"value":435,"modifier":"EXACT"},"end":{"value":533,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"Reference","id":"Ref.4"}],"featureId":"VSP_053958","alternativeSequence":{"originalSequence":"SYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH","alternativeSequences":["RKKQQSGRQM"]}},{"type":"Natural variant","location":{"start":{"value":15,"modifier":"EXACT"},"end":{"value":15,"modifier":"EXACT"}},"description":"in CN2; mutant protein rapidly degraded by the proteasome owing to its mislocalization in the cell; dbSNP:rs111033541","featureCrossReferences":[{"database":"dbSNP","id":"rs111033541"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14550264"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8706880"}],"featureId":"VAR_019410","alternativeSequence":{"originalSequence":"L","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":34,"modifier":"EXACT"},"end":{"value":34,"modifier":"EXACT"}},"description":"in CN2","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"}],"featureId":"VAR_026134","alternativeSequence":{"originalSequence":"P","alternativeSequences":["Q"]}},{"type":"Natural variant","location":{"start":{"value":36,"modifier":"EXACT"},"end":{"value":36,"modifier":"EXACT"}},"description":"in CN1; dbSNP:rs1697429657","featureCrossReferences":[{"database":"dbSNP","id":"rs1697429657"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23992562"}],"featureId":"VAR_071402","alternativeSequence":{"originalSequence":"D","alternativeSequences":["N"]}},{"type":"Natural variant","location":{"start":{"value":39,"modifier":"EXACT"},"end":{"value":39,"modifier":"EXACT"}},"description":"in CN1; dbSNP:rs72551339","featureCrossReferences":[{"database":"dbSNP","id":"rs72551339"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"}],"featureId":"VAR_026135","alternativeSequence":{"originalSequence":"H","alternativeSequences":["D"]}},{"type":"Natural variant","location":{"start":{"value":71,"modifier":"EXACT"},"end":{"value":71,"modifier":"EXACT"}},"description":"in CN2, GILBS and HBLRTFN; has significant residual bilirubin glucuronidation activity of about 25% to 50% of that of the wild-type protein; displays no change in biluribin affinity; decreased SN-38 glucuronosyltransferase activity; dbSNP:rs4148323","featureCrossReferences":[{"database":"dbSNP","id":"rs4148323"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11061796"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12181437"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004206"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7715297"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8280139"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9621515"}],"featureId":"VAR_009504","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":83,"modifier":"EXACT"},"end":{"value":83,"modifier":"EXACT"}},"description":"in GILBS; displays less than 10% of wild-type bilirubin glucuronidation activity; dbSNP:rs56059937","featureCrossReferences":[{"database":"dbSNP","id":"rs56059937"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12139570"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004206"}],"featureId":"VAR_026136","alternativeSequence":{"originalSequence":"F","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":170,"modifier":"EXACT"},"end":{"value":170,"modifier":"EXACT"}},"description":"in CN1 and CN2; has nearly normal activity at pH 7.6 and is inactive at pH 6.4; dbSNP:rs587776762","featureCrossReferences":[{"database":"dbSNP","id":"rs587776762"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23099197"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7989595"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8226884"}],"featureId":"VAR_007695","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":171,"modifier":"EXACT"},"end":{"value":171,"modifier":"EXACT"}},"description":"in CN2; dbSNP:rs587776762","featureCrossReferences":[{"database":"dbSNP","id":"rs587776762"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17229650"}],"featureId":"VAR_064955","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":175,"modifier":"EXACT"},"end":{"value":175,"modifier":"EXACT"}},"description":"in CN2; has low residual bilirubin glucuronidation activity of about 4.6% of that of the wild-type protein; dbSNP:rs72551341","featureCrossReferences":[{"database":"dbSNP","id":"rs72551341"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11370628"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7989595"}],"featureId":"VAR_019411","alternativeSequence":{"originalSequence":"L","alternativeSequences":["Q"]}},{"type":"Natural variant","location":{"start":{"value":177,"modifier":"EXACT"},"end":{"value":177,"modifier":"EXACT"}},"description":"in CN1; dbSNP:rs72551342","featureCrossReferences":[{"database":"dbSNP","id":"rs72551342"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7989595"}],"featureId":"VAR_007697","alternativeSequence":{"originalSequence":"C","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":191,"modifier":"EXACT"},"end":{"value":191,"modifier":"EXACT"}},"description":"in CN2; has low residual bilirubin glucuronidation activity of about 5.3% of that of the wild-type protein","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"}],"featureId":"VAR_064956","alternativeSequence":{"originalSequence":"S","alternativeSequences":["F"]}},{"type":"Natural variant","location":{"start":{"value":209,"modifier":"EXACT"},"end":{"value":209,"modifier":"EXACT"}},"description":"in CN2; has low residual bilirubin glucuronidation activity of about 2.9% of that of the wild-type protein; dbSNP:rs72551343","featureCrossReferences":[{"database":"dbSNP","id":"rs72551343"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7989595"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9621515"}],"featureId":"VAR_007698","alternativeSequence":{"originalSequence":"R","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":225,"modifier":"EXACT"},"end":{"value":225,"modifier":"EXACT"}},"description":"in CN2; dbSNP:rs35003977","featureCrossReferences":[{"database":"dbSNP","id":"rs35003977"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"}],"featureId":"VAR_026137","alternativeSequence":{"originalSequence":"V","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":229,"modifier":"EXACT"},"end":{"value":229,"modifier":"EXACT"}},"description":"in CN2 and GILBS; displays 2-fold decrease in biluribin affinity and 61% of wild-type bilirubin glucuronidation activity; decreased SN-38 glucuronosyltransferase activity; dbSNP:rs35350960","featureCrossReferences":[{"database":"dbSNP","id":"rs35350960"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12181437"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004206"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7715297"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9621515"}],"featureId":"VAR_009505","alternativeSequence":{"originalSequence":"P","alternativeSequences":["Q"]}},{"type":"Natural variant","location":{"start":{"value":230,"modifier":"EXACT"},"end":{"value":230,"modifier":"EXACT"}},"description":"in CN2; dbSNP:rs754922685","featureCrossReferences":[{"database":"dbSNP","id":"rs754922685"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23992562"}],"featureId":"VAR_071403","alternativeSequence":{"originalSequence":"Y","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":276,"modifier":"EXACT"},"end":{"value":276,"modifier":"EXACT"}},"description":"in CN1; dbSNP:rs72551345","featureCrossReferences":[{"database":"dbSNP","id":"rs72551345"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7989595"}],"featureId":"VAR_007699","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":279,"modifier":"EXACT"},"end":{"value":279,"modifier":"EXACT"}},"description":"in CN2; dbSNP:rs397978903","featureCrossReferences":[{"database":"dbSNP","id":"rs397978903"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17229650"}],"featureId":"VAR_064957","alternativeSequence":{"originalSequence":"N","alternativeSequences":["Y"]}},{"type":"Natural variant","location":{"start":{"value":291,"modifier":"EXACT"},"end":{"value":291,"modifier":"EXACT"}},"description":"in CN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"}],"featureId":"VAR_026138","alternativeSequence":{"originalSequence":"E","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":292,"modifier":"EXACT"},"end":{"value":292,"modifier":"EXACT"}},"description":"in CN1; dbSNP:rs758873309","featureCrossReferences":[{"database":"dbSNP","id":"rs758873309"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7989045"}],"featureId":"VAR_007700","alternativeSequence":{"originalSequence":"A","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":294,"modifier":"EXACT"},"end":{"value":294,"modifier":"EXACT"}},"description":"in GILBS and CN2; 40-55% normal bilirubin glucuronidation activity; normal Km for bilirubin; when homozygous far less repressive and generates the mild Gilbert phenotype; dbSNP:rs72551347","featureCrossReferences":[{"database":"dbSNP","id":"rs72551347"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9639672"}],"featureId":"VAR_026139","alternativeSequence":{"originalSequence":"I","alternativeSequences":["T"]}},{"type":"Natural variant","location":{"start":{"value":308,"modifier":"EXACT"},"end":{"value":308,"modifier":"EXACT"}},"description":"in CN1; no bilirubin glucuronidation activity; dbSNP:rs62625011","featureCrossReferences":[{"database":"dbSNP","id":"rs62625011"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7906695"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7989045"}],"featureId":"VAR_007701","alternativeSequence":{"originalSequence":"G","alternativeSequences":["E"]}},{"type":"Natural variant","location":{"start":{"value":331,"modifier":"EXACT"},"end":{"value":331,"modifier":"EXACT"}},"description":"in CN2; has no residual bilirubin glucuronidation activity; dbSNP:rs72551348","featureCrossReferences":[{"database":"dbSNP","id":"rs72551348"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8276413"}],"featureId":"VAR_007702","alternativeSequence":{"originalSequence":"Q","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":336,"modifier":"EXACT"},"end":{"value":336,"modifier":"EXACT"}},"description":"in CN1 and CN2","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"}],"featureId":"VAR_026140","alternativeSequence":{"originalSequence":"R","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":336,"modifier":"EXACT"},"end":{"value":336,"modifier":"EXACT"}},"description":"in CN1; dbSNP:rs750453538","featureCrossReferences":[{"database":"dbSNP","id":"rs750453538"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"}],"featureId":"VAR_026141","alternativeSequence":{"originalSequence":"R","alternativeSequences":["Q"]}},{"type":"Natural variant","location":{"start":{"value":336,"modifier":"EXACT"},"end":{"value":336,"modifier":"EXACT"}},"description":"in CN2; has very low residual bilirubin glucuronidation activity of about 0.4% of that of the wild-type protein; dbSNP:rs139607673","featureCrossReferences":[{"database":"dbSNP","id":"rs139607673"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"}],"featureId":"VAR_026142","alternativeSequence":{"originalSequence":"R","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":354,"modifier":"EXACT"},"end":{"value":354,"modifier":"EXACT"}},"description":"in CN2; dbSNP:rs1559414817","featureCrossReferences":[{"database":"dbSNP","id":"rs1559414817"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17229650"}],"featureId":"VAR_026143","alternativeSequence":{"originalSequence":"W","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":357,"modifier":"EXACT"},"end":{"value":357,"modifier":"EXACT"}},"description":"in CN1; dbSNP:rs72551351","featureCrossReferences":[{"database":"dbSNP","id":"rs72551351"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7989045"}],"featureId":"VAR_007703","alternativeSequence":{"originalSequence":"Q","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":367,"modifier":"EXACT"},"end":{"value":367,"modifier":"EXACT"}},"description":"in CN2; dbSNP:rs55750087","featureCrossReferences":[{"database":"dbSNP","id":"rs55750087"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23099197"}],"featureId":"VAR_071404","alternativeSequence":{"originalSequence":"R","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":367,"modifier":"EXACT"},"end":{"value":367,"modifier":"EXACT"}},"description":"in GILBS; dbSNP:rs55750087","featureCrossReferences":[{"database":"dbSNP","id":"rs55750087"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7715297"}],"featureId":"VAR_012283","alternativeSequence":{"originalSequence":"R","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":368,"modifier":"EXACT"},"end":{"value":368,"modifier":"EXACT"}},"description":"in CN1; dbSNP:rs72551352","featureCrossReferences":[{"database":"dbSNP","id":"rs72551352"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7989045"}],"featureId":"VAR_007704","alternativeSequence":{"originalSequence":"A","alternativeSequences":["T"]}},{"type":"Natural variant","location":{"start":{"value":370,"modifier":"EXACT"},"end":{"value":370,"modifier":"EXACT"}},"description":"in CN2; dbSNP:rs748989741","featureCrossReferences":[{"database":"dbSNP","id":"rs748989741"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17229650"}],"featureId":"VAR_064958","alternativeSequence":{"originalSequence":"I","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":375,"modifier":"EXACT"},"end":{"value":375,"modifier":"EXACT"}},"description":"in CN1; no bilirubin glucuronidation activity; dbSNP:rs72551353","featureCrossReferences":[{"database":"dbSNP","id":"rs72551353"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1634050"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7906695"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7989595"}],"featureId":"VAR_007705","alternativeSequence":{"originalSequence":"S","alternativeSequences":["F"]}},{"type":"Natural variant","location":{"start":{"value":376,"modifier":"EXACT"},"end":{"value":376,"modifier":"EXACT"}},"description":"in CN1 and CN2; dbSNP:rs1349037761","featureCrossReferences":[{"database":"dbSNP","id":"rs1349037761"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"}],"featureId":"VAR_026144","alternativeSequence":{"originalSequence":"H","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":377,"modifier":"EXACT"},"end":{"value":377,"modifier":"EXACT"}},"description":"in CN1 and CN2; dbSNP:rs1283652721","featureCrossReferences":[{"database":"dbSNP","id":"rs1283652721"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"}],"featureId":"VAR_026145","alternativeSequence":{"originalSequence":"G","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":381,"modifier":"EXACT"},"end":{"value":381,"modifier":"EXACT"}},"description":"in CN1; dbSNP:rs72551354","featureCrossReferences":[{"database":"dbSNP","id":"rs72551354"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7989045"}],"featureId":"VAR_007706","alternativeSequence":{"originalSequence":"S","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":387,"modifier":"EXACT"},"end":{"value":387,"modifier":"EXACT"}},"description":"in CN2; has no residual bilirubin glucuronidation activity","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"}],"featureId":"VAR_064959","alternativeSequence":{"originalSequence":"P","alternativeSequences":["H"]}},{"type":"Natural variant","location":{"start":{"value":387,"modifier":"EXACT"},"end":{"value":387,"modifier":"EXACT"}},"description":"in CN1; dbSNP:rs901936528","featureCrossReferences":[{"database":"dbSNP","id":"rs901936528"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"}],"featureId":"VAR_026146","alternativeSequence":{"originalSequence":"P","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":395,"modifier":"EXACT"},"end":{"value":395,"modifier":"EXACT"}},"description":"in CN1; has no residual bilirubin glucuronidation activity; dbSNP:rs367897068","featureCrossReferences":[{"database":"dbSNP","id":"rs367897068"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17229650"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"}],"featureId":"VAR_026147","alternativeSequence":{"originalSequence":"G","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":400,"modifier":"EXACT"},"end":{"value":400,"modifier":"EXACT"}},"description":"in CN2; dbSNP:rs28934877","featureCrossReferences":[{"database":"dbSNP","id":"rs28934877"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12402338"}],"featureId":"VAR_019412","alternativeSequence":{"originalSequence":"N","alternativeSequences":["D"]}},{"type":"Natural variant","location":{"start":{"value":401,"modifier":"EXACT"},"end":{"value":401,"modifier":"EXACT"}},"description":"in CN1; dbSNP:rs72551355","featureCrossReferences":[{"database":"dbSNP","id":"rs72551355"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7989045"}],"featureId":"VAR_007707","alternativeSequence":{"originalSequence":"A","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":402,"modifier":"EXACT"},"end":{"value":402,"modifier":"EXACT"}},"description":"in CN1; has no residual bilirubin glucuronidation activity; N-glycosylation does take place at this new additional site","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"}],"featureId":"VAR_064960","alternativeSequence":{"originalSequence":"K","alternativeSequences":["T"]}},{"type":"Natural variant","location":{"start":{"value":403,"modifier":"EXACT"},"end":{"value":403,"modifier":"EXACT"}},"description":"in CN2; dbSNP:rs778766461","featureCrossReferences":[{"database":"dbSNP","id":"rs778766461"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"}],"featureId":"VAR_026148","alternativeSequence":{"originalSequence":"R","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":428,"modifier":"EXACT"},"end":{"value":428,"modifier":"EXACT"}},"description":"in CN1; dbSNP:rs72551356","featureCrossReferences":[{"database":"dbSNP","id":"rs72551356"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7989045"}],"featureId":"VAR_007708","alternativeSequence":{"originalSequence":"K","alternativeSequences":["E"]}},{"type":"Natural variant","location":{"start":{"value":443,"modifier":"EXACT"},"end":{"value":443,"modifier":"EXACT"}},"description":"in CN2; has no residual bilirubin glucuronidation activity; dbSNP:rs758411577","featureCrossReferences":[{"database":"dbSNP","id":"rs758411577"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17229650"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"}],"featureId":"VAR_064961","alternativeSequence":{"originalSequence":"L","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":461,"modifier":"EXACT"},"end":{"value":461,"modifier":"EXACT"}},"description":"in CN1 and CN2; dbSNP:rs1476500325","featureCrossReferences":[{"database":"dbSNP","id":"rs1476500325"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17229650"}],"featureId":"VAR_026149","alternativeSequence":{"originalSequence":"W","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":478,"modifier":"EXACT"},"end":{"value":478,"modifier":"EXACT"}},"description":"in CN2; dbSNP:rs1700515616","featureCrossReferences":[{"database":"dbSNP","id":"rs1700515616"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15712364"}],"featureId":"VAR_026150","alternativeSequence":{"originalSequence":"A","alternativeSequences":["D"]}},{"type":"Natural variant","location":{"start":{"value":486,"modifier":"EXACT"},"end":{"value":486,"modifier":"EXACT"}},"description":"in CN2, GILBS and HBLRTFN; displays less than 10% of wild-type bilirubin glucuronidation activity; decreased SN-38 glucuronosyltransferase activity; dbSNP:rs34993780","featureCrossReferences":[{"database":"dbSNP","id":"rs34993780"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11013440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11061796"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12181437"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18004206"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19830808"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8280139"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9621515"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9627603"}],"featureId":"VAR_007709","alternativeSequence":{"originalSequence":"Y","alternativeSequences":["D"]}},{"type":"Natural variant","location":{"start":{"value":511,"modifier":"EXACT"},"end":{"value":511,"modifier":"EXACT"}},"description":"in dbSNP:rs1042709","featureCrossReferences":[{"database":"dbSNP","id":"rs1042709"}],"featureId":"VAR_025355","alternativeSequence":{"originalSequence":"A","alternativeSequences":["P"]}},{"type":"Mutagenesis","location":{"start":{"value":233,"modifier":"EXACT"},"end":{"value":233,"modifier":"EXACT"}},"description":"Decreased SN-38 glucuronosyltransferase activity.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12181437"}],"alternativeSequence":{"originalSequence":"L","alternativeSequences":["R"]}}],"keywords":[{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0256","category":"Cellular component","name":"Endoplasmic reticulum"},{"id":"KW-0325","category":"PTM","name":"Glycoprotein"},{"id":"KW-0328","category":"Molecular function","name":"Glycosyltransferase"},{"id":"KW-0443","category":"Biological process","name":"Lipid metabolism"},{"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0732","category":"Domain","name":"Signal"},{"id":"KW-0808","category":"Molecular function","name":"Transferase"},{"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"id":"KW-1133","category":"Domain","name":"Transmembrane helix"}],"references":[{"referenceNumber":1,"citation":{"id":"1898728","citationType":"journal article","authors":["Ritter J.K.","Crawford J.M.","Owens I.S."],"citationCrossReferences":[{"database":"PubMed","id":"1898728"},{"database":"DOI","id":"10.1016/s0021-9258(17)35280-8"}],"title":"Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells.","publicationDate":"1991","journal":"J. Biol. Chem.","firstPage":"1043","lastPage":"1047","volume":"266"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":2,"citation":{"id":"1339448","citationType":"journal article","authors":["Ritter J.K.","Chen F.","Sheen Y.Y.","Tran H.M.","Kimura S.","Yeatman M.T.","Owens I.S."],"citationCrossReferences":[{"database":"PubMed","id":"1339448"},{"database":"DOI","id":"10.1016/s0021-9258(19)50724-4"}],"title":"A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini.","publicationDate":"1992","journal":"J. Biol. Chem.","firstPage":"3257","lastPage":"3261","volume":"267"},"referencePositions":["NUCLEOTIDE SEQUENCE [GENOMIC DNA]","TISSUE SPECIFICITY"]},{"referenceNumber":3,"citation":{"id":"11434514","citationType":"journal article","authors":["Gong Q.H.","Cho J.W.","Huang T.","Potter C.","Gholami N.","Basu N.K.","Kubota S.","Carvalho S.","Pennington M.W.","Owens I.S.","Popescu N.C."],"citationCrossReferences":[{"database":"PubMed","id":"11434514"},{"database":"DOI","id":"10.1097/00008571-200106000-00011"}],"title":"Thirteen UDP-glucuronosyltransferase genes are encoded at the human UGT1 gene complex locus.","publicationDate":"2001","journal":"Pharmacogenetics","firstPage":"357","lastPage":"368","volume":"11"},"referencePositions":["NUCLEOTIDE SEQUENCE [GENOMIC DNA]"]},{"referenceNumber":4,"citation":{"id":"CI-6KHMH6CL685CM","citationType":"submission","authors":["Guillemette C.","Levesque E.","Girard H.","Bernard O."],"publicationDate":"JAN-2006","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2)"]},{"referenceNumber":5,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.-M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.-P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":6,"citation":{"id":"CI-1T64VTCB5RQR","citationType":"journal article","authors":["Ueyama H.","Koiwai O.","Soeda Y.","Sato H.","Satoh Y.","Ohkubo I.","Doida Y."],"title":"Analysis of the promoter of human bilirubin UDP-glucuronosyltransferase gene (UGT1*1) in relevance to Gilbert's syndrome.","publicationDate":"1997","journal":"Hepatol. Res.","firstPage":"152","lastPage":"163","volume":"9"},"referencePositions":["NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-50"]},{"referenceNumber":7,"citation":{"id":"12181437","citationType":"journal article","authors":["Gagne J.F.","Montminy V.","Belanger P.","Journault K.","Gaucher G.","Guillemette C."],"citationCrossReferences":[{"database":"PubMed","id":"12181437"},{"database":"DOI","id":"10.1124/mol.62.3.608"}],"title":"Common human UGT1A polymorphisms and the altered metabolism of irinotecan active metabolite 7-ethyl-10-hydroxycamptothecin (SN-38).","publicationDate":"2002","journal":"Mol. Pharmacol.","firstPage":"608","lastPage":"617","volume":"62"},"referencePositions":["FUNCTION (ISOFORM 1)","CATALYTIC ACTIVITY","BIOPHYSICOCHEMICAL PROPERTIES","SUBSTRATE SPECIFICITY","MUTAGENESIS OF LEU-233","CHARACTERIZATION OF VARIANTS ARG-71; GLN-229 AND ASP-486"]},{"referenceNumber":8,"citation":{"id":"15472229","citationType":"journal article","authors":["Lepine J.","Bernard O.","Plante M.","Tetu B.","Pelletier G.","Labrie F.","Belanger A.","Guillemette C."],"citationCrossReferences":[{"database":"PubMed","id":"15472229"},{"database":"DOI","id":"10.1210/jc.2004-0331"}],"title":"Specificity and regioselectivity of the conjugation of estradiol, estrone, and their catecholestrogen and methoxyestrogen metabolites by human uridine diphospho-glucuronosyltransferases expressed in endometrium.","publicationDate":"2004","journal":"J. Clin. Endocrinol. Metab.","firstPage":"5222","lastPage":"5232","volume":"89"},"referencePositions":["FUNCTION (ISOFORM 1)","CATALYTIC ACTIVITY","BIOPHYSICOCHEMICAL PROPERTIES"]},{"referenceNumber":9,"citation":{"id":"15470161","citationType":"journal article","authors":["Picard N.","Ratanasavanh D.","Premaud A.","Le Meur Y.","Marquet P."],"citationCrossReferences":[{"database":"PubMed","id":"15470161"},{"database":"DOI","id":"10.1124/dmd.104.001651"}],"title":"Identification of the UDP-glucuronosyltransferase isoforms involved in mycophenolic acid phase II metabolism.","publicationDate":"2005","journal":"Drug Metab. Dispos.","firstPage":"139","lastPage":"146","volume":"33"},"referencePositions":["BIOPHYSICOCHEMICAL PROPERTIES"]},{"referenceNumber":10,"citation":{"id":"16595710","citationType":"journal article","authors":["Murai T.","Samata N.","Iwabuchi H.","Ikeda T."],"citationCrossReferences":[{"database":"PubMed","id":"16595710"},{"database":"DOI","id":"10.1124/dmd.106.009621"}],"title":"Human UDP-glucuronosyltransferase, UGT1A8, glucuronidates dihydrotestosterone to a monoglucuronide and further to a structurally novel diglucuronide.","publicationDate":"2006","journal":"Drug Metab. Dispos.","firstPage":"1102","lastPage":"1108","volume":"34"},"referencePositions":["FUNCTION (ISOFORM 1)","BIOPHYSICOCHEMICAL PROPERTIES"]},{"referenceNumber":11,"citation":{"id":"17496722","citationType":"journal article","authors":["Hsieh T.Y.","Shiu T.Y.","Huang S.M.","Lin H.H.","Lee T.C.","Chen P.J.","Chu H.C.","Chang W.K.","Jeng K.S.","Lai M.M.","Chao Y.C."],"citationCrossReferences":[{"database":"PubMed","id":"17496722"},{"database":"DOI","id":"10.1097/fpc.0b013e328012d0da"}],"title":"Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter.","publicationDate":"2007","journal":"Pharmacogenet. Genomics","firstPage":"229","lastPage":"236","volume":"17"},"referencePositions":["INVOLVEMENT IN GILBS"]},{"referenceNumber":12,"citation":{"id":"18052087","citationType":"journal article","authors":["Joseph T.B.","Wang S.W.","Liu X.","Kulkarni K.H.","Wang J.","Xu H.","Hu M."],"citationCrossReferences":[{"database":"PubMed","id":"18052087"},{"database":"DOI","id":"10.1021/mp700135a"}],"title":"Disposition of flavonoids via enteric recycling: enzyme stability affects characterization of prunetin glucuronidation across species, organs, and UGT isoforms.","publicationDate":"2007","journal":"Mol. Pharm.","firstPage":"883","lastPage":"894","volume":"4"},"referencePositions":["FUNCTION (ISOFORM 1)","CATALYTIC ACTIVITY","BIOPHYSICOCHEMICAL PROPERTIES"]},{"referenceNumber":13,"citation":{"id":"17187418","citationType":"journal article","authors":["Levesque E.","Girard H.","Journault K.","Lepine J.","Guillemette C."],"citationCrossReferences":[{"database":"PubMed","id":"17187418"},{"database":"DOI","id":"10.1002/hep.21464"}],"title":"Regulation of the UGT1A1 bilirubin-conjugating pathway: role of a new splicing event at the UGT1A locus.","publicationDate":"2007","journal":"Hepatology","firstPage":"128","lastPage":"138","volume":"45"},"referencePositions":["ALTERNATIVE SPLICING","FUNCTION (ISOFORM 2)","SUBCELLULAR LOCATION","SUBUNIT","TISSUE SPECIFICITY"]},{"referenceNumber":14,"citation":{"id":"17179145","citationType":"journal article","authors":["Operana T.N.","Tukey R.H."],"citationCrossReferences":[{"database":"PubMed","id":"17179145"},{"database":"DOI","id":"10.1074/jbc.m609417200"}],"title":"Oligomerization of the UDP-glucuronosyltransferase 1A proteins: homo- and heterodimerization analysis by fluorescence resonance energy transfer and co-immunoprecipitation.","publicationDate":"2007","journal":"J. Biol. Chem.","firstPage":"4821","lastPage":"4829","volume":"282"},"referencePositions":["SUBUNIT","SUBCELLULAR LOCATION"]},{"referenceNumber":15,"citation":{"id":"18004206","citationType":"journal article","authors":["Udomuksorn W.","Elliot D.J.","Lewis B.C.","Mackenzie P.I.","Yoovathaworn K.","Miners J.O."],"citationCrossReferences":[{"database":"PubMed","id":"18004206"},{"database":"DOI","id":"10.1097/fpc.0b013e328256b1b6"}],"title":"Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates.","publicationDate":"2007","journal":"Pharmacogenet. Genomics","firstPage":"1017","lastPage":"1029","volume":"17"},"referencePositions":["FUNCTION (ISOFORM 1)","CATALYTIC ACTIVITY","KINETIC PARAMETERS","SUBSTRATE SPECIFICITY","CHARACTERIZATION OF VARIANTS CN2 ARG-71; LEU-83; GLN-229 AND ASP-486"]},{"referenceNumber":16,"citation":{"id":"18004212","citationType":"journal article","authors":["Girard H.","Levesque E.","Bellemare J.","Journault K.","Caillier B.","Guillemette C."],"citationCrossReferences":[{"database":"PubMed","id":"18004212"},{"database":"DOI","id":"10.1097/fpc.0b013e3282f1f118"}],"title":"Genetic diversity at the UGT1 locus is amplified by a novel 3' alternative splicing mechanism leading to nine additional UGT1A proteins that act as regulators of glucuronidation activity.","publicationDate":"2007","journal":"Pharmacogenet. Genomics","firstPage":"1077","lastPage":"1089","volume":"17"},"referencePositions":["FUNCTION (ISOFORMS 1 AND 2)","ALTERNATIVE SPLICING","CATALYTIC ACTIVITY","TISSUE SPECIFICITY"]},{"referenceNumber":17,"citation":{"id":"18674515","citationType":"journal article","authors":["Alonen A.","Finel M.","Kostiainen R."],"citationCrossReferences":[{"database":"PubMed","id":"18674515"},{"database":"DOI","id":"10.1016/j.bcp.2008.07.006"}],"title":"The human UDP-glucuronosyltransferase UGT1A3 is highly selective towards N2 in the tetrazole ring of losartan, candesartan, and zolarsartan.","publicationDate":"2008","journal":"Biochem. Pharmacol.","firstPage":"763","lastPage":"772","volume":"76"},"referencePositions":["FUNCTION (ISOFORM 1)","CATALYTIC ACTIVITY","BIOPHYSICOCHEMICAL PROPERTIES"]},{"referenceNumber":18,"citation":{"id":"18719240","citationType":"journal article","authors":["Itaeaho K.","Mackenzie P.I.","Ikushiro S.","Miners J.O.","Finel M."],"citationCrossReferences":[{"database":"PubMed","id":"18719240"},{"database":"DOI","id":"10.1124/dmd.108.022731"}],"title":"The configuration of the 17-hydroxy group variably influences the glucuronidation of beta-estradiol and epiestradiol by human UDP-glucuronosyltransferases.","publicationDate":"2008","journal":"Drug Metab. Dispos.","firstPage":"2307","lastPage":"2315","volume":"36"},"referencePositions":["FUNCTION (ISOFORM 1)","CATALYTIC ACTIVITY","BIOPHYSICOCHEMICAL PROPERTIES","SUBSTRATE SPECIFICITY"]},{"referenceNumber":19,"citation":{"id":"19545173","citationType":"journal article","authors":["Tang L.","Singh R.","Liu Z.","Hu M."],"citationCrossReferences":[{"database":"PubMed","id":"19545173"},{"database":"DOI","id":"10.1021/mp8002557"}],"title":"Structure and concentration changes affect characterization of UGT isoform-specific metabolism of isoflavones.","publicationDate":"2009","journal":"Mol. Pharm.","firstPage":"1466","lastPage":"1482","volume":"6"},"referencePositions":["FUNCTION (ISOFORM 1)"]},{"referenceNumber":20,"citation":{"id":"19414484","citationType":"journal article","authors":["Johnson A.D.","Kavousi M.","Smith A.V.","Chen M.H.","Dehghan A.","Aspelund T.","Lin J.P.","van Duijn C.M.","Harris T.B.","Cupples L.A.","Uitterlinden A.G.","Launer L.","Hofman A.","Rivadeneira F.","Stricker B.","Yang Q.","O'Donnell C.J.","Gudnason V.","Witteman J.C."],"citationCrossReferences":[{"database":"PubMed","id":"19414484"},{"database":"DOI","id":"10.1093/hmg/ddp202"}],"title":"Genome-wide association meta-analysis for total serum bilirubin levels.","publicationDate":"2009","journal":"Hum. Mol. Genet.","firstPage":"2700","lastPage":"2710","volume":"18"},"referencePositions":["INVOLVEMENT IN BILIQTL1"]},{"referenceNumber":21,"citation":{"id":"19159218","citationType":"journal article","authors":["Chen R.","Jiang X.","Sun D.","Han G.","Wang F.","Ye M.","Wang L.","Zou H."],"citationCrossReferences":[{"database":"PubMed","id":"19159218"},{"database":"DOI","id":"10.1021/pr8008012"}],"title":"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.","publicationDate":"2009","journal":"J. Proteome Res.","firstPage":"651","lastPage":"661","volume":"8"},"referencePositions":["GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-102"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":22,"citation":{"id":"20610558","citationType":"journal article","authors":["Bellemare J.","Rouleau M.","Girard H.","Harvey M.","Guillemette C."],"citationCrossReferences":[{"database":"PubMed","id":"20610558"},{"database":"DOI","id":"10.1124/dmd.110.034835"}],"title":"Alternatively spliced products of the UGT1A gene interact with the enzymatically active proteins to inhibit glucuronosyltransferase activity in vitro.","publicationDate":"2010","journal":"Drug Metab. Dispos.","firstPage":"1785","lastPage":"1789","volume":"38"},"referencePositions":["FUNCTION (ISOFORMS 1 AND 2)","SUBUNITS"]},{"referenceNumber":23,"citation":{"id":"15231852","citationType":"journal article","authors":["Little J.M.","Kurkela M.","Sonka J.","Jaentti S.","Ketola R.","Bratton S.","Finel M.","Radominska-Pandya A."],"citationCrossReferences":[{"database":"PubMed","id":"15231852"},{"database":"DOI","id":"10.1194/jlr.m400103-jlr200"}],"title":"Glucuronidation of oxidized fatty acids and prostaglandins B1 and E2 by human hepatic and recombinant UDP-glucuronosyltransferases.","publicationDate":"2004","journal":"J. Lipid Res.","firstPage":"1694","lastPage":"1703","volume":"45"},"referencePositions":["FUNCTION","CATALYTIC ACTIVITY","BIOPHYSICOCHEMICAL PROPERTIES"]},{"referenceNumber":24,"citation":{"id":"21422672","citationType":"journal article","authors":["Li X.","Shang L.","Wu Y.","Abbas S.","Li D.","Netter P.","Ouzzine M.","Wang H.","Magdalou J."],"citationCrossReferences":[{"database":"PubMed","id":"21422672"},{"database":"DOI","id":"10.2133/dmpk.dmpk-10-rg-125"}],"title":"Identification of the human UDP-glucuronosyltransferase isoforms involved in the glucuronidation of the phytochemical ferulic acid.","publicationDate":"2011","journal":"Drug Metab. Pharmacokinet.","firstPage":"341","lastPage":"350","volume":"26"},"referencePositions":["FUNCTION","CATALYTIC ACTIVITY","BIOPHYSICOCHEMICAL PROPERTIES"]},{"referenceNumber":25,"citation":{"id":"23288867","citationType":"journal article","authors":["Sneitz N.","Vahermo M.","Mosorin J.","Laakkonen L.","Poirier D.","Finel M."],"citationCrossReferences":[{"database":"PubMed","id":"23288867"},{"database":"DOI","id":"10.1124/dmd.112.049072"}],"title":"Regiospecificity and stereospecificity of human UDP-glucuronosyltransferases in the glucuronidation of estriol, 16-epiestriol, 17-epiestriol, and 13-epiestradiol.","publicationDate":"2013","journal":"Drug Metab. Dispos.","firstPage":"582","lastPage":"591","volume":"41"},"referencePositions":["FUNCTION (ISOFORM 1)","CATALYTIC ACTIVITY","BIOPHYSICOCHEMICAL PROPERTIES","SUBSTRATE SPECIFICITY"]},{"referenceNumber":26,"citation":{"id":"24525562","citationType":"journal article","authors":["Ma G.","Lin J.","Cai W.","Tan B.","Xiang X.","Zhang Y.","Zhang P."],"citationCrossReferences":[{"database":"PubMed","id":"24525562"},{"database":"DOI","id":"10.1016/j.jpba.2014.01.025"}],"title":"Simultaneous determination of bilirubin and its glucuronides in liver microsomes and recombinant UGT1A1 enzyme incubation systems by HPLC method and its application to bilirubin glucuronidation studies.","publicationDate":"2014","journal":"J. Pharm. Biomed. Anal.","firstPage":"149","lastPage":"159","volume":"92"},"referencePositions":["FUNCTION","CATALYTIC ACTIVITY"]},{"referenceNumber":27,"citation":{"id":"24275569","citationType":"journal article","authors":["Bian Y.","Song C.","Cheng K.","Dong M.","Wang F.","Huang J.","Sun D.","Wang L.","Ye M.","Zou H."],"citationCrossReferences":[{"database":"PubMed","id":"24275569"},{"database":"DOI","id":"10.1016/j.jprot.2013.11.014"}],"title":"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.","publicationDate":"2014","journal":"J. Proteomics","firstPage":"253","lastPage":"262","volume":"96"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":28,"citation":{"id":"38211441","citationType":"journal article","authors":["Milne G.L.","Nogueira M.S.","Gao B.","Sanchez S.C.","Amin W.","Thomas S.","Oger C.","Galano J.M.","Murff H.J.","Yang G.","Durand T."],"citationCrossReferences":[{"database":"PubMed","id":"38211441"},{"database":"DOI","id":"10.1016/j.redox.2023.103020"}],"title":"Identification of novel F2-isoprostane metabolites by specific UDP-glucuronosyltransferases.","publicationDate":"2024","journal":"Redox Biol.","firstPage":"103020","lastPage":"103020","volume":"70"},"referencePositions":["FUNCTION","CATALYTIC ACTIVITY"]},{"referenceNumber":29,"citation":{"id":"1634050","citationType":"journal article","authors":["Bosma P.J.","Chowdhury J.R.","Huang T.-J.","Lahiri P.","Elferink R.P.J.O.","van Es H.H.G.","Lederstein M.","Whitington P.F.","Jansen P.L.M.","Chowdhury N.R."],"citationCrossReferences":[{"database":"PubMed","id":"1634050"},{"database":"DOI","id":"10.1096/fasebj.6.10.1634050"}],"title":"Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.","publicationDate":"1992","journal":"FASEB J.","firstPage":"2859","lastPage":"2863","volume":"6"},"referencePositions":["VARIANT CN1 PHE-375"]},{"referenceNumber":30,"citation":{"id":"8280139","citationType":"journal article","authors":["Aono S.","Yamada Y.","Keino H.","Hanada N.","Nakagawa T.","Sasaoka Y.","Yazawa T.","Sato H.","Koiwai O."],"citationCrossReferences":[{"database":"PubMed","id":"8280139"},{"database":"DOI","id":"10.1006/bbrc.1993.2610"}],"title":"Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II.","publicationDate":"1993","journal":"Biochem. Biophys. Res. Commun.","firstPage":"1239","lastPage":"1244","volume":"197"},"referencePositions":["VARIANTS CN2 ARG-71 AND ASP-486"]},{"referenceNumber":31,"citation":{"id":"8276413","citationType":"journal article","authors":["Moghrabi N.","Clarke D.J.","Boxer M.","Burchell B."],"citationCrossReferences":[{"database":"PubMed","id":"8276413"},{"database":"DOI","id":"10.1006/geno.1993.1451"}],"title":"Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.","publicationDate":"1993","journal":"Genomics","firstPage":"171","lastPage":"173","volume":"18"},"referencePositions":["VARIANT CN2 ARG-331"]},{"referenceNumber":32,"citation":{"id":"8226884","citationType":"journal article","authors":["Ritter J.K.","Yeatman M.T.","Kaiser C.","Gridelli B.","Owens I.S."],"citationCrossReferences":[{"database":"PubMed","id":"8226884"},{"database":"DOI","id":"10.1016/s0021-9258(19)49501-x"}],"title":"A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.","publicationDate":"1993","journal":"J. Biol. Chem.","firstPage":"23573","lastPage":"23579","volume":"268"},"referencePositions":["VARIANT CN1 PHE-170 DEL"]},{"referenceNumber":33,"citation":{"id":"7989045","citationType":"journal article","authors":["Labrune P.","Myara A.","Hadchouel M.","Ronchi F.","Bernard O.","Trivin F.","Roy Chowdhury N.","Roy Chowdhury J.","Munnich A.","Odievre M."],"citationCrossReferences":[{"database":"PubMed","id":"7989045"},{"database":"DOI","id":"10.1007/bf00206965"}],"title":"Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.","publicationDate":"1994","journal":"Hum. Genet.","firstPage":"693","lastPage":"697","volume":"94"},"referencePositions":["VARIANTS CN1 VAL-292; GLU-308; ARG-357; THR-368; ARG-381; PRO-401 AND GLU-428"]},{"referenceNumber":34,"citation":{"id":"7906695","citationType":"journal article","authors":["Erps L.T.","Ritter J.K.","Hersh J.H.","Blossom D.","Martin N.C.","Owens I.S."],"citationCrossReferences":[{"database":"PubMed","id":"7906695"},{"database":"DOI","id":"10.1172/jci117008"}],"title":"Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.","publicationDate":"1994","journal":"J. Clin. Invest.","firstPage":"564","lastPage":"570","volume":"93"},"referencePositions":["VARIANTS CN1 GLU-308 AND PHE-375","CHARACTERIZATION OF VARIANTS CN1 GLU-308 AND PHE-375"]},{"referenceNumber":35,"citation":{"id":"7989595","citationType":"journal article","authors":["Seppen J.","Bosma P.J.","Goldhoorn B.G.","Bakker C.T.M.","Roy Chowdhury J.","Roy Chowdhury N.","Jansen P.L.M.","Oude Elferink R.P.J."],"citationCrossReferences":[{"database":"PubMed","id":"7989595"},{"database":"DOI","id":"10.1172/jci117604"}],"title":"Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.","publicationDate":"1994","journal":"J. Clin. Invest.","firstPage":"2385","lastPage":"2391","volume":"94"},"referencePositions":["VARIANTS CN1 PHE-170 DEL; ARG-177; ARG-276 AND PHE-375","VARIANTS CN2 GLN-175 AND TRP-209"]},{"referenceNumber":36,"citation":{"id":"7715297","citationType":"journal article","authors":["Aono S.","Adachi Y.","Uyama E.","Yamada Y.","Keino H.","Nanno T.","Koiwai O.","Sato H."],"citationCrossReferences":[{"database":"PubMed","id":"7715297"},{"database":"DOI","id":"10.1016/s0140-6736(95)90702-5"}],"title":"Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome.","publicationDate":"1995","journal":"Lancet","firstPage":"958","lastPage":"959","volume":"345"},"referencePositions":["VARIANTS GILBS ARG-71; GLN-229 AND GLY-367","INVOLVEMENT IN GILBS"],"referenceComments":[{"value":"Liver","type":"TISSUE"},{"value":"Peripheral blood leukocyte","type":"TISSUE"}]},{"referenceNumber":37,"citation":{"id":"8706880","citationType":"journal article","authors":["Seppen J.","Steenken E.","Lindhout D.","Bosma P.J.","Oude Elferink R.P.J."],"citationCrossReferences":[{"database":"PubMed","id":"8706880"},{"database":"DOI","id":"10.1016/0014-5793(96)00677-1"}],"title":"A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II.","publicationDate":"1996","journal":"FEBS Lett.","firstPage":"294","lastPage":"298","volume":"390"},"referencePositions":["VARIANT CN2 ARG-15","CHARACTERIZATION OF VARIANT CN2 ARG-15"]},{"referenceNumber":38,"citation":{"id":"9639672","citationType":"journal article","authors":["Ciotti M.","Chen F.","Rubaltelli F.F.","Owens I.S."],"citationCrossReferences":[{"database":"PubMed","id":"9639672"},{"database":"DOI","id":"10.1016/s0925-4439(98)00030-1"}],"title":"Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease.","publicationDate":"1998","journal":"Biochim. Biophys. Acta","firstPage":"40","lastPage":"50","volume":"1407"},"referencePositions":["VARIANT CN2 THR-294","CHARACTERIZATION OF VARIANT CN2 THR-294"]},{"referenceNumber":39,"citation":{"id":"9621515","citationType":"journal article","authors":["Yamamoto K.","Soeda Y.","Kamisako T.","Hosaka H.","Fukano M.","Sato H.","Fujiyama Y.","Dachi Y.","Satoh Y.","Bamba T."],"citationCrossReferences":[{"database":"PubMed","id":"9621515"},{"database":"DOI","id":"10.1007/s100380050050"}],"title":"Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.","publicationDate":"1998","journal":"J. Hum. Genet.","firstPage":"111","lastPage":"114","volume":"43"},"referencePositions":["VARIANTS CN2 ARG-71; TRP-209; GLN-229 AND ASP-486"]},{"referenceNumber":40,"citation":{"id":"9627603","citationType":"journal article","authors":["Maruo Y.","Sato H.","Yamano T.","Doida Y.","Shimada M."],"citationCrossReferences":[{"database":"PubMed","id":"9627603"},{"database":"DOI","id":"10.1016/s0022-3476(98)70408-1"}],"title":"Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene.","publicationDate":"1998","journal":"J. Pediatr.","firstPage":"1045","lastPage":"1047","volume":"132"},"referencePositions":["VARIANT GILBS ASP-486"]},{"referenceNumber":41,"citation":{"id":"11013440","citationType":"journal article","authors":["Kadakol A.","Ghosh S.S.","Sappal B.S.","Sharma G.","Chowdhury J.R.","Chowdhury N.R."],"citationCrossReferences":[{"database":"PubMed","id":"11013440"},{"database":"DOI","id":"10.1002/1098-1004(200010)16:4<297::aid-humu2>3.0.co;2-z"}],"title":"Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.","publicationDate":"2000","journal":"Hum. Mutat.","firstPage":"297","lastPage":"306","volume":"16"},"referencePositions":["VARIANTS CN1 ASP-39; PHE-170 DEL; ARG-177; ARG-276; VAL-291; GLU-308; TRP-336; ARG-357; THR-368; PHE-375; ARG-376; ARG-381; SER-387; PRO-401 AND GLU-428","VARIANTS CN2 ARG-15; GLN-175; TRP-209; GLY-225; ARG-331 AND ARG-376","VARIANTS GILBS ARG-71; GLN-229; THR-294; GLY-367 AND ASP-486"]},{"referenceNumber":42,"citation":{"id":"11061796","citationType":"journal article","authors":["Maruo Y.","Nishizawa K.","Sato H.","Sawa H.","Shimada M."],"citationCrossReferences":[{"database":"PubMed","id":"11061796"},{"database":"DOI","id":"10.1542/peds.106.5.e59"}],"title":"Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate-glucuronosyltransferase gene.","publicationDate":"2000","journal":"Pediatrics","firstPage":"E59","lastPage":"E59","volume":"106"},"referencePositions":["VARIANTS HBLRTFN ARG-71 AND ASP-486"]},{"referenceNumber":43,"citation":{"id":"11370628","citationType":"journal article","authors":["Kadakol A.","Sappal B.S.","Ghosh S.S.","Lowenheim M.","Chowdhury A.","Chowdhury S.","Santra A.","Arias I.M.","Chowdhury J.R.","Chowdhury N.R."],"citationCrossReferences":[{"database":"PubMed","id":"11370628"},{"database":"DOI","id":"10.1136/jmg.38.4.244"}],"title":"Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus.","publicationDate":"2001","journal":"J. Med. Genet.","firstPage":"244","lastPage":"249","volume":"38"},"referencePositions":["VARIANT CN2 GLN-175"]},{"referenceNumber":44,"citation":{"id":"12402338","citationType":"journal article","authors":["Labrune P.","Myara A.","Chalas J.","Le Bihan B.","Capel L.","Francoual J."],"citationCrossReferences":[{"database":"PubMed","id":"12402338"},{"database":"DOI","id":"10.1002/humu.10122"}],"title":"Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome.","publicationDate":"2002","journal":"Hum. Mutat.","firstPage":"399","lastPage":"401","volume":"20"},"referencePositions":["VARIANT CN2 ASP-400"]},{"referenceNumber":45,"citation":{"id":"12139570","citationType":"journal article","authors":["Sutomo R.","Laosombat V.","Sadewa A.H.","Yokoyama N.","Nakamura H.","Matsuo M.","Nishio H."],"citationCrossReferences":[{"database":"PubMed","id":"12139570"},{"database":"DOI","id":"10.1046/j.1442-200x.2002.t01-1-01577.x"}],"title":"Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome.","publicationDate":"2002","journal":"Pediatr. Int.","firstPage":"427","lastPage":"432","volume":"44"},"referencePositions":["VARIANT GILBS LEU-83"]},{"referenceNumber":46,"citation":{"id":"14550264","citationType":"journal article","authors":["Ohnishi A.","Emi Y."],"citationCrossReferences":[{"database":"PubMed","id":"14550264"},{"database":"DOI","id":"10.1016/j.bbrc.2003.09.072"}],"title":"Rapid proteasomal degradation of translocation-deficient UDP-glucuronosyltransferase 1A1 proteins in patients with Crigler-Najjar type II.","publicationDate":"2003","journal":"Biochem. Biophys. Res. Commun.","firstPage":"735","lastPage":"741","volume":"310"},"referencePositions":["CHARACTERIZATION OF VARIANT CN2 ARG-15"]},{"referenceNumber":47,"citation":{"id":"15712364","citationType":"journal article","authors":["Servedio V.","d'Apolito M.","Maiorano N.","Minuti B.","Torricelli F.","Ronchi F.","Zancan L.","Perrotta S.","Vajro P.","Boschetto L.","Iolascon A."],"citationCrossReferences":[{"database":"PubMed","id":"15712364"},{"database":"DOI","id":"10.1002/humu.9322"}],"title":"Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.","publicationDate":"2005","journal":"Hum. Mutat.","firstPage":"325","lastPage":"325","volume":"25"},"referencePositions":["VARIANTS CN1 GLN-336; ARG-357; PHE-375; SER-387 AND VAL-395","VARIANTS CN2 GLN-34; PHE-170 DEL; TRP-209; GLY-225; LEU-336; TRP-336; ARG-354; CYS-403 AND ASP-478","VARIANTS CN1/CN2 VAL-377 AND ARG-461"]},{"referenceNumber":48,"citation":{"id":"17229650","citationType":"journal article","authors":["D'Apolito M.","Marrone A.","Servedio V.","Vajro P.","De Falco L.","Iolascon A."],"citationCrossReferences":[{"database":"PubMed","id":"17229650"},{"database":"DOI","id":"10.3324/haematol.10585"}],"title":"Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.","publicationDate":"2007","journal":"Haematologica","firstPage":"133","lastPage":"134","volume":"92"},"referencePositions":["VARIANT CN1 PHE-171 DEL","VARIANTS CN2 TYR-279; ARG-354; VAL-370; VAL-395; PRO-443 AND ARG-461"]},{"referenceNumber":49,"citation":{"id":"19830808","citationType":"journal article","authors":["Sneitz N.","Bakker C.T.","de Knegt R.J.","Halley D.J.","Finel M.","Bosma P.J."],"citationCrossReferences":[{"database":"PubMed","id":"19830808"},{"database":"DOI","id":"10.1002/humu.21133"}],"title":"Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.","publicationDate":"2010","journal":"Hum. Mutat.","firstPage":"52","lastPage":"59","volume":"31"},"referencePositions":["VARIANT CN1 THR-402","VARIANTS CN2 ARG-15; ARG-71; PHE-191; TRP-209; TRP-336; HIS-387; PRO-443 AND ASP-486","CHARACTERIZATION OF VARIANT CN1 THR-402","CHARACTERIZATION OF VARIANTS CN2 ARG-71; GLN-175; PHE-191; TRP-209; ARG-331; TRP-336; HIS-387; VAL-395 AND PRO-443","CATALYTIC ACTIVITY","FUNCTION","SUBSTRATE SPECIFICITY"]},{"referenceNumber":50,"citation":{"id":"23992562","citationType":"journal article","authors":["Khan S.","Irfan M.","Sher G.","Zubaida B.","Alvi M.A.","Yasinzai M.","Naeem M."],"citationCrossReferences":[{"database":"PubMed","id":"23992562"},{"database":"DOI","id":"10.1111/ahg.12039"}],"title":"UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.","publicationDate":"2013","journal":"Ann. Hum. Genet.","firstPage":"482","lastPage":"487","volume":"77"},"referencePositions":["VARIANT CN1 ASN-36","VARIANT CN2 CYS-230"]},{"referenceNumber":51,"citation":{"id":"23099197","citationType":"journal article","authors":["Minucci A.","Canu G.","Gentile L.","Cimino V.","Giardina B.","Zuppi C.","Capoluongo E."],"citationCrossReferences":[{"database":"PubMed","id":"23099197"},{"database":"DOI","id":"10.1016/j.clinbiochem.2012.10.007"}],"title":"Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia.","publicationDate":"2013","journal":"Clin. Biochem.","firstPage":"170","lastPage":"172","volume":"46"},"referencePositions":["VARIANTS CN2 PHE-170 DEL AND CYS-367"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"M57899","properties":[{"key":"ProteinId","value":"AAA63195.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"M84124","properties":[{"key":"ProteinId","value":"AAA61247.1"},{"key":"Status","value":"ALT_SEQ"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"M84122","properties":[{"key":"ProteinId","value":"AAA61247.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"M84123","properties":[{"key":"ProteinId","value":"AAA61247.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"M84125","properties":[{"key":"ProteinId","value":"AAA61248.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"DQ364247","properties":[{"key":"ProteinId","value":"ABC96771.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AF297093","properties":[{"key":"ProteinId","value":"AAG30424.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC006985","properties":[{"key":"ProteinId","value":"AAF03522.2"},{"key":"Status","value":"ALT_SEQ"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"D87674","properties":[{"key":"ProteinId","value":"BAA25600.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"CCDS","id":"CCDS2510.1","properties":[{"key":"Description","value":"-"}],"isoformId":"P22309-1"},{"database":"PIR","id":"A39092","properties":[{"key":"EntryName","value":"A39092"}]},{"database":"RefSeq","id":"NP_000454.1","properties":[{"key":"NucleotideSequenceId","value":"NM_000463.3"}],"isoformId":"P22309-1"},{"database":"AlphaFoldDB","id":"P22309","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"P22309","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"120087","properties":[{"key":"Interactions","value":"11"}]},{"database":"ComplexPortal","id":"CPX-8502","properties":[{"key":"EntryName","value":"UDP-glucuronosyltransferase 1A1 complex, UGT1A1-1 variant"}],"isoformId":"P22309-1"},{"database":"ComplexPortal","id":"CPX-8541","properties":[{"key":"EntryName","value":"UDP-glucuronosyltransferase 1A1 complex, UGT1A1-1-UGT1A1-2 variant"}],"isoformId":"P22309-1"},{"database":"ComplexPortal","id":"CPX-8552","properties":[{"key":"EntryName","value":"UDP-glucuronosyltransferase 1A1 complex, UGT1A1-1-UTG1A9-1 variant"}],"isoformId":"P22309-1"},{"database":"ComplexPortal","id":"CPX-8557","properties":[{"key":"EntryName","value":"UDP-glucuronosyltransferase 1A1 complex, UGT1A1-1-UGT2B7 variant"}],"isoformId":"P22309-1"},{"database":"ComplexPortal","id":"CPX-8560","properties":[{"key":"EntryName","value":"UDP-glucuronosyltransferase 1A1 complex, UGT1A1-2-UTG1A9-1 variant"}],"isoformId":"P22309-2"},{"database":"ComplexPortal","id":"CPX-8563","properties":[{"key":"EntryName","value":"UDP-glucuronosyltransferase 1A1 complex, UGT1A1-2-UGT2B7 variant"}],"isoformId":"P22309-2"},{"database":"ELM","id":"P22309","properties":[{"key":"Description","value":"-"}]},{"database":"FunCoup","id":"P22309","properties":[{"key":"Number of interactors","value":"389"}]},{"database":"IntAct","id":"P22309","properties":[{"key":"Interactions","value":"13"}]},{"database":"NDEx","id":"IQUERY-CP-UGT1A1","properties":[{"key":"Evidences","value":"12 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000304845","properties":[{"key":"Description","value":"-"}]},{"database":"BindingDB","id":"P22309","properties":[{"key":"Description","value":"-"}]},{"database":"ChEMBL","id":"CHEMBL1287617","properties":[{"key":"Description","value":"-"}]},{"database":"DrugBank","id":"DB01048","properties":[{"key":"GenericName","value":"Abacavir"}]},{"database":"DrugBank","id":"DB00316","properties":[{"key":"GenericName","value":"Acetaminophen"}]},{"database":"DrugBank","id":"DB17999","properties":[{"key":"GenericName","value":"Acoramidis"}]},{"database":"DrugBank","id":"DB00173","properties":[{"key":"GenericName","value":"Adenine"}]},{"database":"DrugBank","id":"DB16640","properties":[{"key":"GenericName","value":"Almonertinib"}]},{"database":"DrugBank","id":"DB03496","properties":[{"key":"GenericName","value":"Alvocidib"}]},{"database":"DrugBank","id":"DB00714","properties":[{"key":"GenericName","value":"Apomorphine"}]},{"database":"DrugBank","id":"DB15059","properties":[{"key":"GenericName","value":"Aprocitentan"}]},{"database":"DrugBank","id":"DB12597","properties":[{"key":"GenericName","value":"Asciminib"}]},{"database":"DrugBank","id":"DB01072","properties":[{"key":"GenericName","value":"Atazanavir"}]},{"database":"DrugBank","id":"DB01076","properties":[{"key":"GenericName","value":"Atorvastatin"}]},{"database":"DrugBank","id":"DB06199","properties":[{"key":"GenericName","value":"Atrasentan"}]},{"database":"DrugBank","id":"DB06626","properties":[{"key":"GenericName","value":"Axitinib"}]},{"database":"DrugBank","id":"DB05015","properties":[{"key":"GenericName","value":"Belinostat"}]},{"database":"DrugBank","id":"DB16703","properties":[{"key":"GenericName","value":"Belumosudil"}]},{"database":"DrugBank","id":"DB12236","properties":[{"key":"GenericName","value":"Bexagliflozin"}]},{"database":"DrugBank","id":"DB11799","properties":[{"key":"GenericName","value":"Bictegravir"}]},{"database":"DrugBank","id":"DB11967","properties":[{"key":"GenericName","value":"Binimetinib"}]},{"database":"DrugBank","id":"DB11751","properties":[{"key":"GenericName","value":"Cabotegravir"}]},{"database":"DrugBank","id":"DB00564","properties":[{"key":"GenericName","value":"Carbamazepine"}]},{"database":"DrugBank","id":"DB01136","properties":[{"key":"GenericName","value":"Carvedilol"}]},{"database":"DrugBank","id":"DB00439","properties":[{"key":"GenericName","value":"Cerivastatin"}]},{"database":"DrugBank","id":"DB00349","properties":[{"key":"GenericName","value":"Clobazam"}]},{"database":"DrugBank","id":"DB14635","properties":[{"key":"GenericName","value":"Curcumin sulfate"}]},{"database":"DrugBank","id":"DB08912","properties":[{"key":"GenericName","value":"Dabrafenib"}]},{"database":"DrugBank","id":"DB11963","properties":[{"key":"GenericName","value":"Dacomitinib"}]},{"database":"DrugBank","id":"DB09183","properties":[{"key":"GenericName","value":"Dasabuvir"}]},{"database":"DrugBank","id":"DB12282","properties":[{"key":"GenericName","value":"Defactinib"}]},{"database":"DrugBank","id":"DB01609","properties":[{"key":"GenericName","value":"Deferasirox"}]},{"database":"DrugBank","id":"DB11943","properties":[{"key":"GenericName","value":"Delafloxacin"}]},{"database":"DrugBank","id":"DB00304","properties":[{"key":"GenericName","value":"Desogestrel"}]},{"database":"DrugBank","id":"DB06700","properties":[{"key":"GenericName","value":"Desvenlafaxine"}]},{"database":"DrugBank","id":"DB09213","properties":[{"key":"GenericName","value":"Dexibuprofen"}]},{"database":"DrugBank","id":"DB08930","properties":[{"key":"GenericName","value":"Dolutegravir"}]},{"database":"DrugBank","id":"DB00470","properties":[{"key":"GenericName","value":"Dronabinol"}]},{"database":"DrugBank","id":"DB12243","properties":[{"key":"GenericName","value":"Edaravone"}]},{"database":"DrugBank","id":"DB00625","properties":[{"key":"GenericName","value":"Efavirenz"}]},{"database":"DrugBank","id":"DB11979","properties":[{"key":"GenericName","value":"Elagolix"}]},{"database":"DrugBank","id":"DB06210","properties":[{"key":"GenericName","value":"Eltrombopag"}]},{"database":"DrugBank","id":"DB09101","properties":[{"key":"GenericName","value":"Elvitegravir"}]},{"database":"DrugBank","id":"DB13874","properties":[{"key":"GenericName","value":"Enasidenib"}]},{"database":"DrugBank","id":"DB11718","properties":[{"key":"GenericName","value":"Encorafenib"}]},{"database":"DrugBank","id":"DB00530","properties":[{"key":"GenericName","value":"Erlotinib"}]},{"database":"DrugBank","id":"DB11827","properties":[{"key":"GenericName","value":"Ertugliflozin"}]},{"database":"DrugBank","id":"DB14575","properties":[{"key":"GenericName","value":"Eslicarbazepine"}]},{"database":"DrugBank","id":"DB09119","properties":[{"key":"GenericName","value":"Eslicarbazepine acetate"}]},{"database":"DrugBank","id":"DB00783","properties":[{"key":"GenericName","value":"Estradiol"}]},{"database":"DrugBank","id":"DB13952","properties":[{"key":"GenericName","value":"Estradiol acetate"}]},{"database":"DrugBank","id":"DB13953","properties":[{"key":"GenericName","value":"Estradiol benzoate"}]},{"database":"DrugBank","id":"DB13954","properties":[{"key":"GenericName","value":"Estradiol cypionate"}]},{"database":"DrugBank","id":"DB13955","properties":[{"key":"GenericName","value":"Estradiol dienanthate"}]},{"database":"DrugBank","id":"DB13956","properties":[{"key":"GenericName","value":"Estradiol valerate"}]},{"database":"DrugBank","id":"DB00977","properties":[{"key":"GenericName","value":"Ethinylestradiol"}]},{"database":"DrugBank","id":"DB00773","properties":[{"key":"GenericName","value":"Etoposide"}]},{"database":"DrugBank","id":"DB00973","properties":[{"key":"GenericName","value":"Ezetimibe"}]},{"database":"DrugBank","id":"DB04953","properties":[{"key":"GenericName","value":"Ezogabine"}]},{"database":"DrugBank","id":"DB04854","properties":[{"key":"GenericName","value":"Febuxostat"}]},{"database":"DrugBank","id":"DB01544","properties":[{"key":"GenericName","value":"Flunitrazepam"}]},{"database":"DrugBank","id":"DB00712","properties":[{"key":"GenericName","value":"Flurbiprofen"}]},{"database":"DrugBank","id":"DB01095","properties":[{"key":"GenericName","value":"Fluvastatin"}]},{"database":"DrugBank","id":"DB00983","properties":[{"key":"GenericName","value":"Formoterol"}]},{"database":"DrugBank","id":"DB12010","properties":[{"key":"GenericName","value":"Fostamatinib"}]},{"database":"DrugBank","id":"DB11796","properties":[{"key":"GenericName","value":"Fostemsavir"}]},{"database":"DrugBank","id":"DB00947","properties":[{"key":"GenericName","value":"Fulvestrant"}]},{"database":"DrugBank","id":"DB00695","properties":[{"key":"GenericName","value":"Furosemide"}]},{"database":"DrugBank","id":"DB02703","properties":[{"key":"GenericName","value":"Fusidic acid"}]},{"database":"DrugBank","id":"DB06741","properties":[{"key":"GenericName","value":"Gavestinel"}]},{"database":"DrugBank","id":"DB01241","properties":[{"key":"GenericName","value":"Gemfibrozil"}]},{"database":"DrugBank","id":"DB13879","properties":[{"key":"GenericName","value":"Glecaprevir"}]},{"database":"DrugBank","id":"DB01067","properties":[{"key":"GenericName","value":"Glipizide"}]},{"database":"DrugBank","id":"DB12471","properties":[{"key":"GenericName","value":"Ibrexafungerp"}]},{"database":"DrugBank","id":"DB19043","properties":[{"key":"GenericName","value":"Imlunestrant"}]},{"database":"DrugBank","id":"DB05039","properties":[{"key":"GenericName","value":"Indacaterol"}]},{"database":"DrugBank","id":"DB00224","properties":[{"key":"GenericName","value":"Indinavir"}]},{"database":"DrugBank","id":"DB00328","properties":[{"key":"GenericName","value":"Indomethacin"}]},{"database":"DrugBank","id":"DB16200","properties":[{"key":"GenericName","value":"Iptacopan"}]},{"database":"DrugBank","id":"DB00762","properties":[{"key":"GenericName","value":"Irinotecan"}]},{"database":"DrugBank","id":"DB01026","properties":[{"key":"GenericName","value":"Ketoconazole"}]},{"database":"DrugBank","id":"DB01009","properties":[{"key":"GenericName","value":"Ketoprofen"}]},{"database":"DrugBank","id":"DB00598","properties":[{"key":"GenericName","value":"Labetalol"}]},{"database":"DrugBank","id":"DB00555","properties":[{"key":"GenericName","value":"Lamotrigine"}]},{"database":"DrugBank","id":"DB16216","properties":[{"key":"GenericName","value":"Lazertinib"}]},{"database":"DrugBank","id":"DB15673","properties":[{"key":"GenericName","value":"Lenacapavir"}]},{"database":"DrugBank","id":"DB12070","properties":[{"key":"GenericName","value":"Letermovir"}]},{"database":"DrugBank","id":"DB00451","properties":[{"key":"GenericName","value":"Levothyroxine"}]},{"database":"DrugBank","id":"DB00279","properties":[{"key":"GenericName","value":"Liothyronine"}]},{"database":"DrugBank","id":"DB00455","properties":[{"key":"GenericName","value":"Loratadine"}]},{"database":"DrugBank","id":"DB00678","properties":[{"key":"GenericName","value":"Losartan"}]},{"database":"DrugBank","id":"DB00227","properties":[{"key":"GenericName","value":"Lovastatin"}]},{"database":"DrugBank","id":"DB06077","properties":[{"key":"GenericName","value":"Lumateperone"}]},{"database":"DrugBank","id":"DB00916","properties":[{"key":"GenericName","value":"Metronidazole"}]},{"database":"DrugBank","id":"DB05018","properties":[{"key":"GenericName","value":"Migalastat"}]},{"database":"DrugBank","id":"DB00350","properties":[{"key":"GenericName","value":"Minoxidil"}]},{"database":"DrugBank","id":"DB16236","properties":[{"key":"GenericName","value":"Mitapivat"}]},{"database":"DrugBank","id":"DB11763","properties":[{"key":"GenericName","value":"Momelotinib"}]},{"database":"DrugBank","id":"DB00295","properties":[{"key":"GenericName","value":"Morphine"}]},{"database":"DrugBank","id":"DB06510","properties":[{"key":"GenericName","value":"Muraglitazar"}]},{"database":"DrugBank","id":"DB00688","properties":[{"key":"GenericName","value":"Mycophenolate mofetil"}]},{"database":"DrugBank","id":"DB01024","properties":[{"key":"GenericName","value":"Mycophenolic acid"}]},{"database":"DrugBank","id":"DB01183","properties":[{"key":"GenericName","value":"Naloxone"}]},{"database":"DrugBank","id":"DB00704","properties":[{"key":"GenericName","value":"Naltrexone"}]},{"database":"DrugBank","id":"DB08804","properties":[{"key":"GenericName","value":"Nandrolone decanoate"}]},{"database":"DrugBank","id":"DB00220","properties":[{"key":"GenericName","value":"Nelfinavir"}]},{"database":"DrugBank","id":"DB04868","properties":[{"key":"GenericName","value":"Nilotinib"}]},{"database":"DrugBank","id":"DB09079","properties":[{"key":"GenericName","value":"Nintedanib"}]},{"database":"DrugBank","id":"DB00957","properties":[{"key":"GenericName","value":"Norgestimate"}]},{"database":"DrugBank","id":"DB09074","properties":[{"key":"GenericName","value":"Olaparib"}]},{"database":"DrugBank","id":"DB09296","properties":[{"key":"GenericName","value":"Ombitasvir"}]},{"database":"DrugBank","id":"DB11837","properties":[{"key":"GenericName","value":"Osilodrostat"}]},{"database":"DrugBank","id":"DB16277","properties":[{"key":"GenericName","value":"Paltusotine"}]},{"database":"DrugBank","id":"DB09297","properties":[{"key":"GenericName","value":"Paritaprevir"}]},{"database":"DrugBank","id":"DB06589","properties":[{"key":"GenericName","value":"Pazopanib"}]},{"database":"DrugBank","id":"DB12978","properties":[{"key":"GenericName","value":"Pexidartinib"}]},{"database":"DrugBank","id":"DB01174","properties":[{"key":"GenericName","value":"Phenobarbital"}]},{"database":"DrugBank","id":"DB00252","properties":[{"key":"GenericName","value":"Phenytoin"}]},{"database":"DrugBank","id":"DB13878","properties":[{"key":"GenericName","value":"Pibrentasvir"}]},{"database":"DrugBank","id":"DB00960","properties":[{"key":"GenericName","value":"Pindolol"}]},{"database":"DrugBank","id":"DB12016","properties":[{"key":"GenericName","value":"Ponesimod"}]},{"database":"DrugBank","id":"DB00794","properties":[{"key":"GenericName","value":"Primidone"}]},{"database":"DrugBank","id":"DB01032","properties":[{"key":"GenericName","value":"Probenecid"}]},{"database":"DrugBank","id":"DB09288","properties":[{"key":"GenericName","value":"Propacetamol"}]},{"database":"DrugBank","id":"DB00818","properties":[{"key":"GenericName","value":"Propofol"}]},{"database":"DrugBank","id":"DB12874","properties":[{"key":"GenericName","value":"Quizartinib"}]},{"database":"DrugBank","id":"DB00481","properties":[{"key":"GenericName","value":"Raloxifene"}]},{"database":"DrugBank","id":"DB06817","properties":[{"key":"GenericName","value":"Raltegravir"}]},{"database":"DrugBank","id":"DB08896","properties":[{"key":"GenericName","value":"Regorafenib"}]},{"database":"DrugBank","id":"DB16826","properties":[{"key":"GenericName","value":"Repotrectinib"}]},{"database":"DrugBank","id":"DB01045","properties":[{"key":"GenericName","value":"Rifampin"}]},{"database":"DrugBank","id":"DB00503","properties":[{"key":"GenericName","value":"Ritonavir"}]},{"database":"DrugBank","id":"DB12332","properties":[{"key":"GenericName","value":"Rucaparib"}]},{"database":"DrugBank","id":"DB12893","properties":[{"key":"GenericName","value":"Sacituzumab govitecan"}]},{"database":"DrugBank","id":"DB11689","properties":[{"key":"GenericName","value":"Selumetinib"}]},{"database":"DrugBank","id":"DB09298","properties":[{"key":"GenericName","value":"Silibinin"}]},{"database":"DrugBank","id":"DB00641","properties":[{"key":"GenericName","value":"Simvastatin"}]},{"database":"DrugBank","id":"DB09276","properties":[{"key":"GenericName","value":"Sodium aurothiomalate"}]},{"database":"DrugBank","id":"DB00398","properties":[{"key":"GenericName","value":"Sorafenib"}]},{"database":"DrugBank","id":"DB12713","properties":[{"key":"GenericName","value":"Sotagliflozin"}]},{"database":"DrugBank","id":"DB00870","properties":[{"key":"GenericName","value":"Suprofen"}]},{"database":"DrugBank","id":"DB12020","properties":[{"key":"GenericName","value":"Tecovirimat"}]},{"database":"DrugBank","id":"DB00871","properties":[{"key":"GenericName","value":"Terbutaline"}]},{"database":"DrugBank","id":"DB01420","properties":[{"key":"GenericName","value":"Testosterone propionate"}]},{"database":"DrugBank","id":"DB00906","properties":[{"key":"GenericName","value":"Tiagabine"}]},{"database":"DrugBank","id":"DB00932","properties":[{"key":"GenericName","value":"Tipranavir"}]},{"database":"DrugBank","id":"DB00193","properties":[{"key":"GenericName","value":"Tramadol"}]},{"database":"DrugBank","id":"DB00197","properties":[{"key":"GenericName","value":"Troglitazone"}]},{"database":"DrugBank","id":"DB15328","properties":[{"key":"GenericName","value":"Ubrogepant"}]},{"database":"DrugBank","id":"DB12255","properties":[{"key":"GenericName","value":"Vadadustat"}]},{"database":"DrugBank","id":"DB00313","properties":[{"key":"GenericName","value":"Valproic acid"}]},{"database":"DrugBank","id":"DB15456","properties":[{"key":"GenericName","value":"Vericiguat"}]},{"database":"DrugBank","id":"DB00495","properties":[{"key":"GenericName","value":"Zidovudine"}]},{"database":"DrugBank","id":"DB00909","properties":[{"key":"GenericName","value":"Zonisamide"}]},{"database":"DrugCentral","id":"P22309","properties":[{"key":"Description","value":"-"}]},{"database":"GuidetoPHARMACOLOGY","id":"2990","properties":[{"key":"Description","value":"-"}]},{"database":"SwissLipids","id":"SLP:000001697","properties":[{"key":"Description","value":"-"}]},{"database":"CAZy","id":"GT1","properties":[{"key":"FamilyName","value":"Glycosyltransferase Family 1"}]},{"database":"GlyConnect","id":"P22309","properties":[{"key":"glycosylation","value":"2 N-Linked glycans (1 site)"}]},{"database":"GlyCosmos","id":"P22309","properties":[{"key":"glycosylation","value":"4 sites, 3 glycans"}]},{"database":"GlyGen","id":"P22309","properties":[{"key":"glycosylation","value":"4 sites, 2 N-linked glycans (1 site), 1 O-linked glycan (1 site)"}]},{"database":"iPTMnet","id":"P22309","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"P22309","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"UGT1A1","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"136729","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"P22309","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"P22309","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000304845","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"P22309","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"1325","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"53981","properties":[{"key":"Description","value":"-"}],"isoformId":"P22309-1"},{"database":"Antibodypedia","id":"35061","properties":[{"key":"antibodies","value":"280 antibodies from 29 providers"}]},{"database":"DNASU","id":"54658","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000305208.10","properties":[{"key":"ProteinId","value":"ENSP00000304845.5"},{"key":"GeneId","value":"ENSG00000241635.8"}],"isoformId":"P22309-1"},{"database":"Ensembl","id":"ENST00000360418.4","properties":[{"key":"ProteinId","value":"ENSP00000353593.3"},{"key":"GeneId","value":"ENSG00000241635.8"}],"isoformId":"P22309-2"},{"database":"GeneID","id":"54658","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:54658","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000305208.10","properties":[{"key":"ProteinId","value":"ENSP00000304845.5"},{"key":"RefSeqNucleotideId","value":"NM_000463.3"},{"key":"RefSeqProteinId","value":"NP_000454.1"}]},{"database":"AGR","id":"HGNC:12530","properties":[{"key":"Description","value":"-"}]},{"database":"CIViC","id":"54658","properties":[{"key":"Number of evidences","value":"2 evidence items across 2 molecular profiles"}]},{"database":"ClinPGx","id":"PA37181","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA420","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"54658","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"54658","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"UGT1A1","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:12530","properties":[{"key":"GeneName","value":"UGT1A1"}]},{"database":"HPA","id":"ENSG00000241635","properties":[{"key":"ExpressionPatterns","value":"Group enriched (intestine, liver)"}]},{"database":"MalaCards","id":"UGT1A1","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"143500","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"191740","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"218800","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"237900","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"601816","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"606785","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000241635","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"79234","properties":[{"key":"Disease","value":"Crigler-Najjar syndrome type 1"}]},{"database":"Orphanet","id":"79235","properties":[{"key":"Disease","value":"Crigler-Najjar syndrome type 2"}]},{"database":"Orphanet","id":"2312","properties":[{"key":"Disease","value":"Transient familial neonatal hyperbilirubinemia"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000241635","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG1192","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00940000159677","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_012949_3_2_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"P22309","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"AAWLCCF","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"5835829at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"P22309","properties":[{"key":"Number of GO annotations","value":"9 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"P22309","properties":[{"key":"Description","value":"-"}]},{"database":"BRENDA","id":"2.4.1.17","properties":[{"key":"OrganismId","value":"2681"}]},{"database":"PathwayCommons","id":"P22309","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-156588","properties":[{"key":"PathwayName","value":"Glucuronidation"}]},{"database":"Reactome","id":"R-HSA-189483","properties":[{"key":"PathwayName","value":"Heme degradation"}]},{"database":"Reactome","id":"R-HSA-5579002","properties":[{"key":"PathwayName","value":"Defective UGT1A1 causes hyperbilirubinemia"}]},{"database":"Reactome","id":"R-HSA-9749641","properties":[{"key":"PathwayName","value":"Aspirin ADME"}]},{"database":"Reactome","id":"R-HSA-9753281","properties":[{"key":"PathwayName","value":"Paracetamol ADME"}]},{"database":"SABIO-RK","id":"P22309","properties":[{"key":"Description","value":"-"}]},{"database":"SignaLink","id":"P22309","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"P22309","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000241635","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"54658","properties":[{"key":"hits","value":"11 hits in 1034 CRISPR screens"}]},{"database":"GenomeRNAi","id":"54658","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"P22309","properties":[{"key":"DevelopmentLevel","value":"Tchem"}]},{"database":"PRO","id":"PR:P22309","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 2"}]},{"database":"RNAct","id":"P22309","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000241635","properties":[{"key":"ExpressionPatterns","value":"Expressed in duodenum and 66 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"P22309","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:1902494","properties":[{"key":"GoTerm","value":"C:catalytic complex"},{"key":"GoEvidenceType","value":"IPI:ComplexPortal"}]},{"database":"GO","id":"GO:0005783","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17179145"}]},{"database":"GO","id":"GO:0034663","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum chaperone complex"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0005789","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum membrane"},{"key":"GoEvidenceType","value":"IDA:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17179145"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17187418"}]},{"database":"GO","id":"GO:0048471","properties":[{"key":"GoTerm","value":"C:perinuclear region of cytoplasm"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0019899","properties":[{"key":"GoTerm","value":"F:enzyme binding"},{"key":"GoEvidenceType","value":"IPI:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000353","source":"PubMed","id":"17179145"}]},{"database":"GO","id":"GO:0004857","properties":[{"key":"GoTerm","value":"F:enzyme inhibitor activity"},{"key":"GoEvidenceType","value":"IDA:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"19996319"}]},{"database":"GO","id":"GO:0015020","properties":[{"key":"GoTerm","value":"F:glucuronosyltransferase activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"15231852"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"15472229"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17179145"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"18719240"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"19830808"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"21422672"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"22579593"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"38211441"}]},{"database":"GO","id":"GO:0046982","properties":[{"key":"GoTerm","value":"F:protein heterodimerization activity"},{"key":"GoEvidenceType","value":"IPI:BHF-UCL"}]},{"database":"GO","id":"GO:0042803","properties":[{"key":"GoTerm","value":"F:protein homodimerization activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17179145"}]},{"database":"GO","id":"GO:0001972","properties":[{"key":"GoTerm","value":"F:retinoic acid binding"},{"key":"GoEvidenceType","value":"IDA:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"20308471"}]},{"database":"GO","id":"GO:0005496","properties":[{"key":"GoTerm","value":"F:steroid binding"},{"key":"GoEvidenceType","value":"IDA:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"19996319"}]},{"database":"GO","id":"GO:0008194","properties":[{"key":"GoTerm","value":"F:UDP-glycosyltransferase activity"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0006789","properties":[{"key":"GoTerm","value":"P:bilirubin conjugation"},{"key":"GoEvidenceType","value":"IDA:UniProt"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"18004206"}]},{"database":"GO","id":"GO:0071385","properties":[{"key":"GoTerm","value":"P:cellular response to glucocorticoid stimulus"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0008210","properties":[{"key":"GoTerm","value":"P:estrogen metabolic process"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"15472229"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"18719240"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"19830808"}]},{"database":"GO","id":"GO:0051552","properties":[{"key":"GoTerm","value":"P:flavone metabolic process"},{"key":"GoEvidenceType","value":"IDA:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"18052087"}]},{"database":"GO","id":"GO:0009812","properties":[{"key":"GoTerm","value":"P:flavonoid metabolic process"},{"key":"GoEvidenceType","value":"IDA:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"20056724"}]},{"database":"GO","id":"GO:0019585","properties":[{"key":"GoTerm","value":"P:glucuronate metabolic process"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0042167","properties":[{"key":"GoTerm","value":"P:heme catabolic process"},{"key":"GoEvidenceType","value":"IDA:UniProt"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"18004206"}]},{"database":"GO","id":"GO:0001889","properties":[{"key":"GoTerm","value":"P:liver development"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0045922","properties":[{"key":"GoTerm","value":"P:negative regulation of fatty acid metabolic process"},{"key":"GoEvidenceType","value":"ISS:BHF-UCL"}]},{"database":"GO","id":"GO:0045939","properties":[{"key":"GoTerm","value":"P:negative regulation of steroid metabolic process"},{"key":"GoEvidenceType","value":"IC:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"19996319"}]},{"database":"GO","id":"GO:0042573","properties":[{"key":"GoTerm","value":"P:retinoic acid metabolic process"},{"key":"GoEvidenceType","value":"IC:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"20308471"}]},{"database":"GO","id":"GO:0008202","properties":[{"key":"GoTerm","value":"P:steroid metabolic process"},{"key":"GoEvidenceType","value":"IC:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"19996319"}]},{"database":"GO","id":"GO:0016125","properties":[{"key":"GoTerm","value":"P:sterol metabolic process"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0006805","properties":[{"key":"GoTerm","value":"P:xenobiotic metabolic process"},{"key":"GoEvidenceType","value":"IDA:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"20056724"}]},{"database":"CDD","id":"cd03784","properties":[{"key":"EntryName","value":"GT1_Gtf-like"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.2000:FF:000001","properties":[{"key":"EntryName","value":"UDP-glucuronosyltransferase"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.2000:FF:000066","properties":[{"key":"EntryName","value":"UDP-glucuronosyltransferase 1-1"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.2000","properties":[{"key":"EntryName","value":"Glycogen Phosphorylase B"},{"key":"MatchStatus","value":"2"}]},{"database":"InterPro","id":"IPR050271","properties":[{"key":"EntryName","value":"UDP-glycosyltransferase"}]},{"database":"InterPro","id":"IPR002213","properties":[{"key":"EntryName","value":"UDP_glucos_trans"}]},{"database":"InterPro","id":"IPR035595","properties":[{"key":"EntryName","value":"UDP_glycos_trans_CS"}]},{"database":"PANTHER","id":"PTHR48043","properties":[{"key":"EntryName","value":"EG:EG0003.4 PROTEIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR48043:SF161","properties":[{"key":"EntryName","value":"UDP GLUCURONOSYLTRANSFERASE FAMILY 1 MEMBER A1"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00201","properties":[{"key":"EntryName","value":"UDPGT"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53756","properties":[{"key":"EntryName","value":"UDP-Glycosyltransferase/glycogen phosphorylase"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00375","properties":[{"key":"EntryName","value":"UDPGT"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLGAIQQLQQRGHEIVVLAPDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFENDSFLQRVIKTYKKIKKDSAMLLSGCSHLLHNKELMASLAESSFDVMLTDPFLPCSPIVAQYLSLPTVFFLHALPCSLEFEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFLCDVVYSPYATLASEFLQREVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVGGINCLHQNPLSQEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH","length":533,"molWeight":59591,"crc64":"19C90231AD0EB547","md5":"0A2903863C13EE87C927D6BF41596AB3"},"extraAttributes":{"countByCommentType":{"FUNCTION":2,"CATALYTIC ACTIVITY":21,"BIOPHYSICOCHEMICAL PROPERTIES":1,"SUBUNIT":1,"INTERACTION":3,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":2,"TISSUE SPECIFICITY":2,"POLYMORPHISM":1,"DISEASE":4,"MISCELLANEOUS":1,"SIMILARITY":1,"SEQUENCE CAUTION":2,"WEB RESOURCE":1},"countByFeatureType":{"Signal":1,"Chain":1,"Transmembrane":1,"Glycosylation":3,"Alternative sequence":1,"Natural variant":48,"Mutagenesis":1},"uniParcId":"UPI00000000C2"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"Q5DT03","uniProtkbId":"Q5DT03_HUMAN","entryAudit":{"firstPublicDate":"2005-05-10","lastAnnotationUpdateDate":"2026-11-04","lastSequenceUpdateDate":"2005-05-10","entryVersion":169,"sequenceVersion":1},"annotationScore":3.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AAR95637.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"2: Evidence at transcript level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU362059"}],"value":"UDP-glucuronosyltransferase"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU362059"}],"value":"2.4.1.17"}]}},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AAR95637.1"}],"value":"UGT1A1"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AFN10616.1"}],"value":"BILIQTL1"}],"orfNames":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"EAW71053.1"}],"value":"hCG_2039726"}]}],"comments":[{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"glucuronate acceptor + UDP-alpha-D-glucuronate = acceptor beta-D-glucuronoside + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:21032"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:132367"},{"database":"ChEBI","id":"CHEBI:132368"}],"ecNumber":"2.4.1.17","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00049912"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:21033"},"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00049912"}]}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004389"}],"value":"Endoplasmic reticulum membrane","id":"SL-0097"},"topology":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004389"}],"value":"Single-pass membrane protein","id":"SL-9904"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU362059"}],"value":"Membrane","id":"SL-0162"},"topology":{"evidences":[{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU362059"}],"value":"Single-pass membrane protein","id":"SL-9904"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00009995"},{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU003718"}],"value":"Belongs to the UDP-glycosyltransferase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Signal","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":27,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU362059"}]},{"type":"Chain","location":{"start":{"value":28,"modifier":"EXACT"},"end":{"value":533,"modifier":"EXACT"}},"description":"UDP-glucuronosyltransferase","evidences":[{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU362059"}],"featureId":"PRO_5014205883"},{"type":"Transmembrane","location":{"start":{"value":491,"modifier":"EXACT"},"end":{"value":514,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU362059"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022824"}],"id":"KW-0256","category":"Cellular component","name":"Endoplasmic reticulum"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023180"}],"id":"KW-0325","category":"PTM","name":"Glycoprotein"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022676"},{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU003718"}],"id":"KW-0328","category":"Molecular function","name":"Glycosyltransferase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023136"},{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU362059"}],"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022729"},{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU362059"}],"id":"KW-0732","category":"Domain","name":"Signal"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022679"},{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU003718"}],"id":"KW-0808","category":"Molecular function","name":"Transferase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022692"},{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU362059"}],"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022989"},{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU362059"}],"id":"KW-1133","category":"Domain","name":"Transmembrane helix"}],"references":[{"referenceNumber":1,"citation":{"id":"11181995","citationType":"journal article","authors":["Venter J.C.","Adams M.D.","Myers E.W.","Li P.W.","Mural R.J.","Sutton G.G.","Smith H.O.","Yandell M.","Evans C.A.","Holt R.A.","Gocayne J.D.","Amanatides P.","Ballew R.M.","Huson D.H.","Wortman J.R.","Zhang Q.","Kodira C.D.","Zheng X.H.","Chen L.","Skupski M.","Subramanian G.","Thomas P.D.","Zhang J.","Gabor Miklos G.L.","Nelson C.","Broder S.","Clark A.G.","Nadeau J.","McKusick V.A.","Zinder N.","Levine A.J.","Roberts R.J.","Simon M.","Slayman C.","Hunkapiller M.","Bolanos R.","Delcher A.","Dew I.","Fasulo D.","Flanigan M.","Florea L.","Halpern A.","Hannenhalli S.","Kravitz S.","Levy S.","Mobarry C.","Reinert K.","Remington K.","Abu-Threideh J.","Beasley E.","Biddick K.","Bonazzi V.","Brandon R.","Cargill M.","Chandramouliswaran I.","Charlab R.","Chaturvedi K.","Deng Z.","Di Francesco V.","Dunn P.","Eilbeck K.","Evangelista C.","Gabrielian A.E.","Gan W.","Ge W.","Gong F.","Gu Z.","Guan P.","Heiman T.J.","Higgins M.E.","Ji R.R.","Ke Z.","Ketchum K.A.","Lai Z.","Lei Y.","Li Z.","Li J.","Liang Y.","Lin X.","Lu F.","Merkulov G.V.","Milshina N.","Moore H.M.","Naik A.K.","Narayan V.A.","Neelam B.","Nusskern D.","Rusch D.B.","Salzberg S.","Shao W.","Shue B.","Sun J.","Wang Z.","Wang A.","Wang X.","Wang J.","Wei M.","Wides R.","Xiao C.","Yan C.","Yao A.","Ye J.","Zhan M.","Zhang W.","Zhang H.","Zhao Q.","Zheng L.","Zhong F.","Zhong W.","Zhu S.","Zhao S.","Gilbert D.","Baumhueter S.","Spier G.","Carter C.","Cravchik A.","Woodage T.","Ali F.","An H.","Awe A.","Baldwin D.","Baden H.","Barnstead M.","Barrow I.","Beeson K.","Busam D.","Carver A.","Center A.","Cheng M.L.","Curry L.","Danaher S.","Davenport L.","Desilets R.","Dietz S.","Dodson K.","Doup L.","Ferriera S.","Garg N.","Gluecksmann A.","Hart B.","Haynes J.","Haynes C.","Heiner C.","Hladun S.","Hostin D.","Houck J.","Howland T.","Ibegwam C.","Johnson J.","Kalush F.","Kline L.","Koduru S.","Love A.","Mann F.","May D.","McCawley S.","McIntosh T.","McMullen I.","Moy M.","Moy L.","Murphy B.","Nelson K.","Pfannkoch C.","Pratts E.","Puri V.","Qureshi H.","Reardon M.","Rodriguez R.","Rogers Y.H.","Romblad D.","Ruhfel B.","Scott R.","Sitter C.","Smallwood M.","Stewart E.","Strong R.","Suh E.","Thomas R.","Tint N.N.","Tse S.","Vech C.","Wang G.","Wetter J.","Williams S.","Williams M.","Windsor S.","Winn-Deen E.","Wolfe K.","Zaveri J.","Zaveri K.","Abril J.F.","Guigo R.","Campbell M.J.","Sjolander K.V.","Karlak B.","Kejariwal A.","Mi H.","Lazareva B.","Hatton T.","Narechania A.","Diemer K.","Muruganujan A.","Guo N.","Sato S.","Bafna V.","Istrail S.","Lippert R.","Schwartz R.","Walenz B.","Yooseph S.","Allen D.","Basu A.","Baxendale J.","Blick L.","Caminha M.","Carnes-Stine J.","Caulk P.","Chiang Y.H.","Coyne M.","Dahlke C.","Mays A.","Dombroski M.","Donnelly M.","Ely D.","Esparham S.","Fosler C.","Gire H.","Glanowski S.","Glasser K.","Glodek A.","Gorokhov M.","Graham K.","Gropman B.","Harris M.","Heil J.","Henderson S.","Hoover J.","Jennings D.","Jordan C.","Jordan J.","Kasha J.","Kagan L.","Kraft C.","Levitsky A.","Lewis M.","Liu X.","Lopez J.","Ma D.","Majoros W.","McDaniel J.","Murphy S.","Newman M.","Nguyen T.","Nguyen N.","Nodell M.","Pan S.","Peck J.","Peterson M.","Rowe W.","Sanders R.","Scott J.","Simpson M.","Smith T.","Sprague A.","Stockwell T.","Turner R.","Venter E.","Wang M.","Wen M.","Wu D.","Wu M.","Xia A.","Zandieh A.","Zhu X."],"citationCrossReferences":[{"database":"PubMed","id":"11181995"},{"database":"DOI","id":"10.1126/science.1058040"}],"title":"The sequence of the human genome.","publicationDate":"2001","journal":"Science","firstPage":"1304","lastPage":"1351","volume":"291"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"EAW71053.1"}]},{"referenceNumber":2,"citation":{"id":"14672974","citationType":"journal article","authors":["Zhang T.","Haws P.","Wu Q."],"citationCrossReferences":[{"database":"PubMed","id":"14672974"},{"database":"DOI","id":"10.1101/gr.1225204"}],"title":"Multiple variable first exons: a mechanism for cell- and tissue-specific gene regulation.","publicationDate":"2004","journal":"Genome Res.","firstPage":"79","lastPage":"89","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AAR95637.1"}]},{"referenceNumber":3,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"authors":["Gerhard D.S.","Wagner L.","Feingold E.A.","Shenmen C.M.","Grouse L.H.","Schuler G.","Klein S.L.","Old S.","Rasooly R.","Good P.","Guyer M.","Peck A.M.","Derge J.G.","Lipman D.","Collins F.S.","Jang W.","Sherry S.","Feolo M.","Misquitta L.","Lee E.","Rotmistrovsky K.","Greenhut S.F.","Schaefer C.F.","Buetow K.","Bonner T.I.","Haussler D.","Kent J.","Kiekhaus M.","Furey T.","Brent M.","Prange C.","Schreiber K.","Shapiro N.","Bhat N.K.","Hopkins R.F.","Hsie F.","Driscoll T.","Soares M.B.","Casavant T.L.","Scheetz T.E.","Brown-stein M.J.","Usdin T.B.","Toshiyuki S.","Carninci P.","Piao Y.","Dudekula D.B.","Ko M.S.","Kawakami K.","Suzuki Y.","Sugano S.","Gruber C.E.","Smith M.R.","Simmons B.","Moore T.","Waterman R.","Johnson S.L.","Ruan Y.","Wei C.L.","Mathavan S.","Gunaratne P.H.","Wu J.","Garcia A.M.","Hulyk S.W.","Fuh E.","Yuan Y.","Sneed A.","Kowis C.","Hodgson A.","Muzny D.M.","McPherson J.","Gibbs R.A.","Fahey J.","Helton E.","Ketteman M.","Madan A.","Rodrigues S.","Sanchez A.","Whiting M.","Madari A.","Young A.C.","Wetherby K.D.","Granite S.J.","Kwong P.N.","Brinkley C.P.","Pearson R.L.","Bouffard G.G.","Blakesly R.W.","Green E.D.","Dickson M.C.","Rodriguez A.C.","Grimwood J.","Schmutz J.","Myers R.M.","Butterfield Y.S.","Griffith M.","Griffith O.L.","Krzywinski M.I.","Liao N.","Morin R.","Morrin R.","Palmquist D.","Petrescu A.S.","Skalska U.","Smailus D.E.","Stott J.M.","Schnerch A.","Schein J.E.","Jones S.J.","Holt R.A.","Baross A.","Marra M.A.","Clifton S.","Makowski K.A.","Bosak S.","Malek J."],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AAI28415.1"}]},{"referenceNumber":4,"citation":{"id":"CI-56FT96O07V0QG","citationType":"submission","authors":["Mural R.J.","Istrail S.","Sutton G.","Florea L.","Halpern A.L.","Mobarry C.M.","Lippert R.","Walenz B.","Shatkay H.","Dew I.","Miller J.R.","Flanigan M.J.","Edwards N.J.","Bolanos R.","Fasulo D.","Halldorsson B.V.","Hannenhalli S.","Turner R.","Yooseph S.","Lu F.","Nusskern D.R.","Shue B.C.","Zheng X.H.","Zhong F.","Delcher A.L.","Huson D.H.","Kravitz S.A.","Mouchard L.","Reinert K.","Remington K.A.","Clark A.G.","Waterman M.S.","Eichler E.E.","Adams M.D.","Hunkapiller M.W.","Myers E.W.","Venter J.C."],"publicationDate":"JUL-2005","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"EAW71053.1"}]},{"referenceNumber":5,"citation":{"id":"CI-96UCQGGE2UV0L","citationType":"submission","authors":["Wakamatsu A.","Yamamoto J.","Kimura K.","Ishii S.","Watanabe K.","Sugiyama A.","Murakawa K.","Kaida T.","Tsuchiya K.","Fukuzumi Y.","Kumagai A.","Oishi Y.","Yamamoto S.","Ono Y.","Komori Y.","Yamazaki M.","Kisu Y.","Nishikawa T.","Sugano S.","Nomura N.","Isogai T."],"title":"NEDO human cDNA sequencing project.","publicationDate":"OCT-2007","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAF83523.1"}],"value":"Liver","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAF83523.1"}]},{"referenceNumber":6,"citation":{"id":"CI-CRCNMQVDO6PTQ","citationType":"submission","authors":["Rathi R.","Prasad R.","Khullar N.","Kumar P."],"title":"A novel silent mutation K114K in exon 1 of human UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) gene.","publicationDate":"FEB-2012","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AFN10616.1"}]},{"referenceNumber":7,"citation":{"id":"CI-AHPNS6D0RFCMH","citationType":"submission","authors":["Rathi R."],"title":"UGT1A1 mutations/polymorphism in neonatal Hyperbilirubinemia in north indian population.","publicationDate":"FEB-2012","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AFH35129.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"BC128414","properties":[{"key":"ProteinId","value":"AAI28415.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC128415","properties":[{"key":"ProteinId","value":"AAI28416.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AY435136","properties":[{"key":"ProteinId","value":"AAR95637.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"JQ686667","properties":[{"key":"ProteinId","value":"AFH35129.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"JQ699640","properties":[{"key":"ProteinId","value":"AFN10616.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK290834","properties":[{"key":"ProteinId","value":"BAF83523.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"CH471063","properties":[{"key":"ProteinId","value":"EAW71053.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"RefSeq","id":"NP_000454.1","properties":[{"key":"NucleotideSequenceId","value":"NM_000463.3"}]},{"database":"AlphaFoldDB","id":"Q5DT03","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"Q5DT03","properties":[{"key":"Description","value":"-"}]},{"database":"CAZy","id":"GT1","properties":[{"key":"FamilyName","value":"Glycosyltransferase Family 1"}]},{"database":"Antibodypedia","id":"35061","properties":[{"key":"antibodies","value":"280 antibodies from 29 providers"}]},{"database":"DNASU","id":"54658","properties":[{"key":"Description","value":"-"}]},{"database":"GeneID","id":"54658","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:54658","properties":[{"key":"Description","value":"-"}]},{"database":"UCSC","id":"uc002vvb.4","properties":[{"key":"OrganismName","value":"human"}]},{"database":"ClinPGx","id":"PA420","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"54658","properties":[{"key":"Description","value":"-"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000241635","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_012949_3_2_1","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"AAWLCCF","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"5835829at2759","properties":[{"key":"Description","value":"-"}]},{"database":"SABIO-RK","id":"Q5DT03","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID-ORCS","id":"54658","properties":[{"key":"hits","value":"11 hits in 1034 CRISPR screens"}]},{"database":"GO","id":"GO:0034663","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum chaperone complex"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0005789","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum membrane"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0019899","properties":[{"key":"GoTerm","value":"F:enzyme binding"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0015020","properties":[{"key":"GoTerm","value":"F:glucuronosyltransferase activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-EC"}]},{"database":"GO","id":"GO:0046982","properties":[{"key":"GoTerm","value":"F:protein heterodimerization activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0042803","properties":[{"key":"GoTerm","value":"F:protein homodimerization activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0032787","properties":[{"key":"GoTerm","value":"P:monocarboxylic acid metabolic process"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0008202","properties":[{"key":"GoTerm","value":"P:steroid metabolic process"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"CDD","id":"cd03784","properties":[{"key":"EntryName","value":"GT1_Gtf-like"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.2000:FF:000001","properties":[{"key":"EntryName","value":"UDP-glucuronosyltransferase"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.2000:FF:000066","properties":[{"key":"EntryName","value":"UDP-glucuronosyltransferase 1-1"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.2000","properties":[{"key":"EntryName","value":"Glycogen Phosphorylase B"},{"key":"MatchStatus","value":"2"}]},{"database":"InterPro","id":"IPR050271","properties":[{"key":"EntryName","value":"UDP-glycosyltransferase"}]},{"database":"InterPro","id":"IPR002213","properties":[{"key":"EntryName","value":"UDP_glucos_trans"}]},{"database":"InterPro","id":"IPR035595","properties":[{"key":"EntryName","value":"UDP_glycos_trans_CS"}]},{"database":"PANTHER","id":"PTHR48043","properties":[{"key":"EntryName","value":"EG:EG0003.4 PROTEIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR48043:SF161","properties":[{"key":"EntryName","value":"UDP GLUCURONOSYLTRANSFERASE FAMILY 1 MEMBER A1"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00201","properties":[{"key":"EntryName","value":"UDPGT"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53756","properties":[{"key":"EntryName","value":"UDP-Glycosyltransferase/glycogen phosphorylase"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00375","properties":[{"key":"EntryName","value":"UDPGT"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLGAIQQLQQRGHEIVVLAPDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFENDSFLQRVIKTYKKIKKDSAMLLSGCSHLLHNKELMASLAESSFDVMLTDPFLPCSPIVAQYLSLPTVFFLHALPCSLEFEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFLCDVVYSPYATLASEFLQREVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVGGINCLHQNPLSQEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH","length":533,"molWeight":59591,"crc64":"19C90231AD0EB547","md5":"0A2903863C13EE87C927D6BF41596AB3"},"extraAttributes":{"countByCommentType":{"CATALYTIC ACTIVITY":1,"SUBCELLULAR LOCATION":1,"SIMILARITY":1},"countByFeatureType":{"Signal":1,"Chain":1,"Transmembrane":1},"uniParcId":"UPI00000000C2"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"W6JGV8","uniProtkbId":"W6JGV8_HUMAN","entryAudit":{"firstPublicDate":"2014-04-16","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2014-04-16","entryVersion":35,"sequenceVersion":1},"annotationScore":2.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48184.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"3: Inferred from homology","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48184.1"}],"value":"Bilirubin UDP-glucuronosyltransferase"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48184.1"}],"value":"UGT1A1"}}],"comments":[{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"glucuronate acceptor + UDP-alpha-D-glucuronate = acceptor beta-D-glucuronoside + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:21032"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:132367"},{"database":"ChEBI","id":"CHEBI:132368"}],"ecNumber":"2.4.1.17","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00049912"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:21033"},"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00049912"}]}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004167"}],"value":"Membrane","id":"SL-0162"},"topology":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004167"}],"value":"Single-pass membrane protein","id":"SL-9904"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00009995"}],"value":"Belongs to the UDP-glycosyltransferase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Transmembrane","location":{"start":{"value":56,"modifier":"EXACT"},"end":{"value":79,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}]},{"type":"Non-terminal residue","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48184.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022676"}],"id":"KW-0328","category":"Molecular function","name":"Glycosyltransferase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022679"},{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48184.1"}],"id":"KW-0808","category":"Molecular function","name":"Transferase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022692"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022989"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-1133","category":"Domain","name":"Transmembrane helix"}],"references":[{"referenceNumber":1,"citation":{"id":"14581810","citationType":"journal article","authors":["Maruo Y.","Serdaroglu E.","Iwai M.","Takahashi H.","Mori A.","Sato H."],"citationCrossReferences":[{"database":"PubMed","id":"14581810"},{"database":"DOI","id":"10.1097/00005176-200311000-00024"}],"title":"A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1.","publicationDate":"2003","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"627","lastPage":"630","volume":"37"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48184.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48184.1"}]},{"referenceNumber":2,"citation":{"id":"CI-E8DFH9KIN3MFH","citationType":"journal article","authors":["Maruo Y.","Verma C.","Matsui K.","Takahashi H.","Mimura Y.","Ota Y.","Mori A.","Sato H."],"title":"Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.","publicationDate":"2008","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"308","lastPage":"3011","volume":"46"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48184.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48184.1"}]},{"referenceNumber":3,"citation":{"id":"21297505","citationType":"journal article","authors":["Maruo Y.","Ozgenc F.","Mimura Y.","Ota Y.","Matsui K.","Takahashi H.","Sato H."],"citationCrossReferences":[{"database":"PubMed","id":"21297505"},{"database":"DOI","id":"10.1097/MPG.0b013e3181fcafb8"}],"title":"Compound heterozygote of a novel missense mutation (p.K402T) and a double missense mutation (p.[G71R;Y486D]) in type II Crigler-Najjar syndrome.","publicationDate":"2011","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"362","lastPage":"365","volume":"52"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48184.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48184.1"}]},{"referenceNumber":4,"citation":{"id":"CI-25V3VPIGOM7K1","citationType":"submission","authors":["Maruo Y.","Morioka Y.","Matsui K.","Mimura Y.","Nakahara S.","Yanagi T.","Mori A."],"title":"Novel mutations of bilirubin UDP-glucuronosyltransferase, UGT1A1.","publicationDate":"JAN-2013","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48184.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48184.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AB779759","properties":[{"key":"ProteinId","value":"BAO48184.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"W6JGV8","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"W6JGV8","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"5835829at2759","properties":[{"key":"Description","value":"-"}]},{"database":"GO","id":"GO:0005783","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0016020","properties":[{"key":"GoTerm","value":"C:membrane"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0019899","properties":[{"key":"GoTerm","value":"F:enzyme binding"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0015020","properties":[{"key":"GoTerm","value":"F:glucuronosyltransferase activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-EC"}]},{"database":"GO","id":"GO:0046982","properties":[{"key":"GoTerm","value":"F:protein heterodimerization activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0042803","properties":[{"key":"GoTerm","value":"F:protein homodimerization activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0032787","properties":[{"key":"GoTerm","value":"P:monocarboxylic acid metabolic process"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"InterPro","id":"IPR050271","properties":[{"key":"EntryName","value":"UDP-glycosyltransferase"}]},{"database":"InterPro","id":"IPR002213","properties":[{"key":"EntryName","value":"UDP_glucos_trans"}]},{"database":"PANTHER","id":"PTHR48043","properties":[{"key":"EntryName","value":"EG:EG0003.4 PROTEIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR48043:SF161","properties":[{"key":"EntryName","value":"UDP GLUCURONOSYLTRANSFERASE FAMILY 1 MEMBER A1"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00201","properties":[{"key":"EntryName","value":"UDPGT"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53756","properties":[{"key":"EntryName","value":"UDP-Glycosyltransferase/glycogen phosphorylase"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"YKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGVPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH","length":98,"molWeight":11411,"crc64":"8C5769579A14A9E8","md5":"852D52F6A927863A2CBB758A8BFDB094"},"extraAttributes":{"countByCommentType":{"CATALYTIC ACTIVITY":1,"SUBCELLULAR LOCATION":1,"SIMILARITY":1},"countByFeatureType":{"Transmembrane":1,"Non-terminal residue":1},"uniParcId":"UPI0003E3607A"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"W6JNV6","uniProtkbId":"W6JNV6_HUMAN","entryAudit":{"firstPublicDate":"2014-04-16","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2014-04-16","entryVersion":37,"sequenceVersion":1},"annotationScore":2.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48180.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"3: Inferred from homology","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00012544"}],"value":"glucuronosyltransferase"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00012544"}],"value":"2.4.1.17"}]},"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48180.1"}],"value":"UGT1A1"}}],"comments":[{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"glucuronate acceptor + UDP-alpha-D-glucuronate = acceptor beta-D-glucuronoside + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:21032"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:132367"},{"database":"ChEBI","id":"CHEBI:132368"}],"ecNumber":"2.4.1.17","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00049912"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:21033"},"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00049912"}]}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004167"}],"value":"Membrane","id":"SL-0162"},"topology":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004167"}],"value":"Single-pass membrane protein","id":"SL-9904"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00009995"}],"value":"Belongs to the UDP-glycosyltransferase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Signal","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":27,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"SignalP"}]},{"type":"Chain","location":{"start":{"value":28,"modifier":"EXACT"},"end":{"value":288,"modifier":"EXACT"}},"description":"glucuronosyltransferase","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"SignalP"}],"featureId":"PRO_5004878879"},{"type":"Non-terminal residue","location":{"start":{"value":288,"modifier":"EXACT"},"end":{"value":288,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48180.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023180"}],"id":"KW-0325","category":"PTM","name":"Glycoprotein"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022676"}],"id":"KW-0328","category":"Molecular function","name":"Glycosyltransferase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022989"}],"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022729"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"SignalP"}],"id":"KW-0732","category":"Domain","name":"Signal"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022679"},{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48180.1"}],"id":"KW-0808","category":"Molecular function","name":"Transferase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022692"}],"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022989"}],"id":"KW-1133","category":"Domain","name":"Transmembrane helix"}],"references":[{"referenceNumber":1,"citation":{"id":"14581810","citationType":"journal article","authors":["Maruo Y.","Serdaroglu E.","Iwai M.","Takahashi H.","Mori A.","Sato H."],"citationCrossReferences":[{"database":"PubMed","id":"14581810"},{"database":"DOI","id":"10.1097/00005176-200311000-00024"}],"title":"A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1.","publicationDate":"2003","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"627","lastPage":"630","volume":"37"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48180.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48180.1"}]},{"referenceNumber":2,"citation":{"id":"CI-E8DFH9KIN3MFH","citationType":"journal article","authors":["Maruo Y.","Verma C.","Matsui K.","Takahashi H.","Mimura Y.","Ota Y.","Mori A.","Sato H."],"title":"Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.","publicationDate":"2008","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"308","lastPage":"3011","volume":"46"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48180.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48180.1"}]},{"referenceNumber":3,"citation":{"id":"21297505","citationType":"journal article","authors":["Maruo Y.","Ozgenc F.","Mimura Y.","Ota Y.","Matsui K.","Takahashi H.","Sato H."],"citationCrossReferences":[{"database":"PubMed","id":"21297505"},{"database":"DOI","id":"10.1097/MPG.0b013e3181fcafb8"}],"title":"Compound heterozygote of a novel missense mutation (p.K402T) and a double missense mutation (p.[G71R;Y486D]) in type II Crigler-Najjar syndrome.","publicationDate":"2011","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"362","lastPage":"365","volume":"52"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48180.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48180.1"}]},{"referenceNumber":4,"citation":{"id":"CI-7T2VUUHVD1B4U","citationType":"submission","authors":["Maruo Y.","Morioka Y.","Takahashi H.","Matsui K.","Nakahara S.","Yanagi T.","Sato H."],"publicationDate":"JAN-2013","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48180.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48180.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AB779755","properties":[{"key":"ProteinId","value":"BAO48180.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"W6JNV6","properties":[{"key":"Description","value":"-"}]},{"database":"CAZy","id":"GT1","properties":[{"key":"FamilyName","value":"Glycosyltransferase Family 1"}]},{"database":"PeptideAtlas","id":"W6JNV6","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"5835829at2759","properties":[{"key":"Description","value":"-"}]},{"database":"GO","id":"GO:0005783","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0016020","properties":[{"key":"GoTerm","value":"C:membrane"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0019899","properties":[{"key":"GoTerm","value":"F:enzyme binding"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0015020","properties":[{"key":"GoTerm","value":"F:glucuronosyltransferase activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-EC"}]},{"database":"GO","id":"GO:0046982","properties":[{"key":"GoTerm","value":"F:protein heterodimerization activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0042803","properties":[{"key":"GoTerm","value":"F:protein homodimerization activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0032787","properties":[{"key":"GoTerm","value":"P:monocarboxylic acid metabolic process"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"FunFam","id":"3.40.50.2000:FF:000066","properties":[{"key":"EntryName","value":"UDP-glucuronosyltransferase 1-1"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.2000","properties":[{"key":"EntryName","value":"Glycogen Phosphorylase B"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR050271","properties":[{"key":"EntryName","value":"UDP-glycosyltransferase"}]},{"database":"InterPro","id":"IPR002213","properties":[{"key":"EntryName","value":"UDP_glucos_trans"}]},{"database":"PANTHER","id":"PTHR48043","properties":[{"key":"EntryName","value":"EG:EG0003.4 PROTEIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR48043:SF161","properties":[{"key":"EntryName","value":"UDP GLUCURONOSYLTRANSFERASE FAMILY 1 MEMBER A1"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00201","properties":[{"key":"EntryName","value":"UDPGT"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53756","properties":[{"key":"EntryName","value":"UDP-Glycosyltransferase/glycogen phosphorylase"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLGAIQQLQQRGHEIVVLAPDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFENDSFLQRVIKTYKKIKKDSAMLLSGCSHLPHNKELMASLAESSFDVMLTDPFLPCSPIVAQYLSLPTVFFLHALPCSLEFEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFLCDVVYSPYATLASEFLQREVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVGGINCLHQNPLSQ","length":288,"molWeight":32208,"crc64":"E6973CC4F3CF72AF","md5":"46640C86B38602914C0AEE6C09629235"},"extraAttributes":{"countByCommentType":{"CATALYTIC ACTIVITY":1,"SUBCELLULAR LOCATION":1,"SIMILARITY":1},"countByFeatureType":{"Signal":1,"Chain":1,"Non-terminal residue":1},"uniParcId":"UPI0003E35F0A"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"W6JGU6","uniProtkbId":"W6JGU6_HUMAN","entryAudit":{"firstPublicDate":"2014-04-16","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2014-04-16","entryVersion":34,"sequenceVersion":1},"annotationScore":2.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48183.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"3: Inferred from homology","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48183.1"}],"value":"Bilirubin UDP-glucuronosyltransferase"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48183.1"}],"value":"UGT1A1"}}],"comments":[{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"glucuronate acceptor + UDP-alpha-D-glucuronate = acceptor beta-D-glucuronoside + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:21032"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:132367"},{"database":"ChEBI","id":"CHEBI:132368"}],"ecNumber":"2.4.1.17","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00049912"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:21033"},"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00049912"}]}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004167"}],"value":"Membrane","id":"SL-0162"},"topology":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004167"}],"value":"Single-pass membrane protein","id":"SL-9904"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00009995"}],"value":"Belongs to the UDP-glycosyltransferase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Transmembrane","location":{"start":{"value":56,"modifier":"EXACT"},"end":{"value":79,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}]},{"type":"Non-terminal residue","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48183.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022676"}],"id":"KW-0328","category":"Molecular function","name":"Glycosyltransferase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022679"},{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48183.1"}],"id":"KW-0808","category":"Molecular function","name":"Transferase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022692"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022989"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-1133","category":"Domain","name":"Transmembrane helix"}],"references":[{"referenceNumber":1,"citation":{"id":"14581810","citationType":"journal article","authors":["Maruo Y.","Serdaroglu E.","Iwai M.","Takahashi H.","Mori A.","Sato H."],"citationCrossReferences":[{"database":"PubMed","id":"14581810"},{"database":"DOI","id":"10.1097/00005176-200311000-00024"}],"title":"A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1.","publicationDate":"2003","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"627","lastPage":"630","volume":"37"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48183.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48183.1"}]},{"referenceNumber":2,"citation":{"id":"CI-E8DFH9KIN3MFH","citationType":"journal article","authors":["Maruo Y.","Verma C.","Matsui K.","Takahashi H.","Mimura Y.","Ota Y.","Mori A.","Sato H."],"title":"Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.","publicationDate":"2008","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"308","lastPage":"3011","volume":"46"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48183.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48183.1"}]},{"referenceNumber":3,"citation":{"id":"21297505","citationType":"journal article","authors":["Maruo Y.","Ozgenc F.","Mimura Y.","Ota Y.","Matsui K.","Takahashi H.","Sato H."],"citationCrossReferences":[{"database":"PubMed","id":"21297505"},{"database":"DOI","id":"10.1097/MPG.0b013e3181fcafb8"}],"title":"Compound heterozygote of a novel missense mutation (p.K402T) and a double missense mutation (p.[G71R;Y486D]) in type II Crigler-Najjar syndrome.","publicationDate":"2011","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"362","lastPage":"365","volume":"52"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48183.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48183.1"}]},{"referenceNumber":4,"citation":{"id":"CI-7T2VUUHVD1B4U","citationType":"submission","authors":["Maruo Y.","Morioka Y.","Takahashi H.","Matsui K.","Nakahara S.","Yanagi T.","Sato H."],"publicationDate":"JAN-2013","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48183.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48183.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AB779758","properties":[{"key":"ProteinId","value":"BAO48183.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"W6JGU6","properties":[{"key":"Description","value":"-"}]},{"database":"CAZy","id":"GT1","properties":[{"key":"FamilyName","value":"Glycosyltransferase Family 1"}]},{"database":"PeptideAtlas","id":"W6JGU6","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"5835829at2759","properties":[{"key":"Description","value":"-"}]},{"database":"GO","id":"GO:0005783","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0016020","properties":[{"key":"GoTerm","value":"C:membrane"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0019899","properties":[{"key":"GoTerm","value":"F:enzyme binding"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0015020","properties":[{"key":"GoTerm","value":"F:glucuronosyltransferase activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-EC"}]},{"database":"GO","id":"GO:0046982","properties":[{"key":"GoTerm","value":"F:protein heterodimerization activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0042803","properties":[{"key":"GoTerm","value":"F:protein homodimerization activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0032787","properties":[{"key":"GoTerm","value":"P:monocarboxylic acid metabolic process"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"InterPro","id":"IPR050271","properties":[{"key":"EntryName","value":"UDP-glycosyltransferase"}]},{"database":"InterPro","id":"IPR002213","properties":[{"key":"EntryName","value":"UDP_glucos_trans"}]},{"database":"PANTHER","id":"PTHR48043","properties":[{"key":"EntryName","value":"EG:EG0003.4 PROTEIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR48043:SF161","properties":[{"key":"EntryName","value":"UDP GLUCURONOSYLTRANSFERASE FAMILY 1 MEMBER A1"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00201","properties":[{"key":"EntryName","value":"UDPGT"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53756","properties":[{"key":"EntryName","value":"UDP-Glycosyltransferase/glycogen phosphorylase"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"YKENIMRLSSLHKDRPVEPLDLAVFRVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH","length":98,"molWeight":11352,"crc64":"881D3743CF45BEFF","md5":"7BA719082FF2A637C47D0CA65F6BFD16"},"extraAttributes":{"countByCommentType":{"CATALYTIC ACTIVITY":1,"SUBCELLULAR LOCATION":1,"SIMILARITY":1},"countByFeatureType":{"Transmembrane":1,"Non-terminal residue":1},"uniParcId":"UPI0003E384D5"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"W6JIB0","uniProtkbId":"W6JIB0_HUMAN","entryAudit":{"firstPublicDate":"2014-04-16","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2014-04-16","entryVersion":35,"sequenceVersion":1},"annotationScore":2.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48182.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"3: Inferred from homology","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48182.1"}],"value":"Bilirubin UDP-glucuronosyltransferase"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48182.1"}],"value":"UGT1A1"}}],"comments":[{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"glucuronate acceptor + UDP-alpha-D-glucuronate = acceptor beta-D-glucuronoside + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:21032"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:132367"},{"database":"ChEBI","id":"CHEBI:132368"}],"ecNumber":"2.4.1.17","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00049912"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:21033"},"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00049912"}]}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004167"}],"value":"Membrane","id":"SL-0162"},"topology":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004167"}],"value":"Single-pass membrane protein","id":"SL-9904"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00009995"}],"value":"Belongs to the UDP-glycosyltransferase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Non-terminal residue","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48182.1"}]},{"type":"Non-terminal residue","location":{"start":{"value":72,"modifier":"EXACT"},"end":{"value":72,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48182.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022676"}],"id":"KW-0328","category":"Molecular function","name":"Glycosyltransferase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022989"}],"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022679"},{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48182.1"}],"id":"KW-0808","category":"Molecular function","name":"Transferase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022692"}],"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022989"}],"id":"KW-1133","category":"Domain","name":"Transmembrane helix"}],"references":[{"referenceNumber":1,"citation":{"id":"14581810","citationType":"journal article","authors":["Maruo Y.","Serdaroglu E.","Iwai M.","Takahashi H.","Mori A.","Sato H."],"citationCrossReferences":[{"database":"PubMed","id":"14581810"},{"database":"DOI","id":"10.1097/00005176-200311000-00024"}],"title":"A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1.","publicationDate":"2003","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"627","lastPage":"630","volume":"37"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48182.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48182.1"}]},{"referenceNumber":2,"citation":{"id":"CI-E8DFH9KIN3MFH","citationType":"journal article","authors":["Maruo Y.","Verma C.","Matsui K.","Takahashi H.","Mimura Y.","Ota Y.","Mori A.","Sato H."],"title":"Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.","publicationDate":"2008","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"308","lastPage":"3011","volume":"46"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48182.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48182.1"}]},{"referenceNumber":3,"citation":{"id":"21297505","citationType":"journal article","authors":["Maruo Y.","Ozgenc F.","Mimura Y.","Ota Y.","Matsui K.","Takahashi H.","Sato H."],"citationCrossReferences":[{"database":"PubMed","id":"21297505"},{"database":"DOI","id":"10.1097/MPG.0b013e3181fcafb8"}],"title":"Compound heterozygote of a novel missense mutation (p.K402T) and a double missense mutation (p.[G71R;Y486D]) in type II Crigler-Najjar syndrome.","publicationDate":"2011","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"362","lastPage":"365","volume":"52"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48182.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48182.1"}]},{"referenceNumber":4,"citation":{"id":"CI-7T2VUUHVD1B4U","citationType":"submission","authors":["Maruo Y.","Morioka Y.","Takahashi H.","Matsui K.","Nakahara S.","Yanagi T.","Sato H."],"publicationDate":"JAN-2013","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48182.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48182.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AB779757","properties":[{"key":"ProteinId","value":"BAO48182.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"W6JIB0","properties":[{"key":"Description","value":"-"}]},{"database":"CAZy","id":"GT1","properties":[{"key":"FamilyName","value":"Glycosyltransferase Family 1"}]},{"database":"PeptideAtlas","id":"W6JIB0","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"5835829at2759","properties":[{"key":"Description","value":"-"}]},{"database":"GO","id":"GO:0005783","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0016020","properties":[{"key":"GoTerm","value":"C:membrane"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0019899","properties":[{"key":"GoTerm","value":"F:enzyme binding"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0015020","properties":[{"key":"GoTerm","value":"F:glucuronosyltransferase activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-EC"}]},{"database":"GO","id":"GO:0046982","properties":[{"key":"GoTerm","value":"F:protein heterodimerization activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0042803","properties":[{"key":"GoTerm","value":"F:protein homodimerization activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0032787","properties":[{"key":"GoTerm","value":"P:monocarboxylic acid metabolic process"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"CDD","id":"cd03784","properties":[{"key":"EntryName","value":"GT1_Gtf-like"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.2000","properties":[{"key":"EntryName","value":"Glycogen Phosphorylase B"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR050271","properties":[{"key":"EntryName","value":"UDP-glycosyltransferase"}]},{"database":"InterPro","id":"IPR002213","properties":[{"key":"EntryName","value":"UDP_glucos_trans"}]},{"database":"PANTHER","id":"PTHR48043","properties":[{"key":"EntryName","value":"EG:EG0003.4 PROTEIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR48043:SF161","properties":[{"key":"EntryName","value":"UDP GLUCURONOSYLTRANSFERASE FAMILY 1 MEMBER A1"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00201","properties":[{"key":"EntryName","value":"UDPGT"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53756","properties":[{"key":"EntryName","value":"UDP-Glycosyltransferase/glycogen phosphorylase"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"HPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNATRMETKGAGVTLNVLEMTSEDLENALKAVINDK","length":72,"molWeight":7838,"crc64":"9EBB3F95B5E831E2","md5":"9E2AB19D2BFDFAFB5EB1328E80A3A4E5"},"extraAttributes":{"countByCommentType":{"CATALYTIC ACTIVITY":1,"SUBCELLULAR LOCATION":1,"SIMILARITY":1},"countByFeatureType":{"Non-terminal residue":2},"uniParcId":"UPI0003E34E57"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"W6JGU4","uniProtkbId":"W6JGU4_HUMAN","entryAudit":{"firstPublicDate":"2014-04-16","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2014-04-16","entryVersion":37,"sequenceVersion":1},"annotationScore":2.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48178.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"3: Inferred from homology","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00012544"}],"value":"glucuronosyltransferase"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00012544"}],"value":"2.4.1.17"}]},"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48178.1"}],"value":"UGT1A1"}}],"comments":[{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"glucuronate acceptor + UDP-alpha-D-glucuronate = acceptor beta-D-glucuronoside + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:21032"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:132367"},{"database":"ChEBI","id":"CHEBI:132368"}],"ecNumber":"2.4.1.17","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00049912"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:21033"},"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00049912"}]}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004167"}],"value":"Membrane","id":"SL-0162"},"topology":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004167"}],"value":"Single-pass membrane protein","id":"SL-9904"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00009995"}],"value":"Belongs to the UDP-glycosyltransferase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Signal","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":27,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"SignalP"}]},{"type":"Chain","location":{"start":{"value":28,"modifier":"EXACT"},"end":{"value":288,"modifier":"EXACT"}},"description":"glucuronosyltransferase","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"SignalP"}],"featureId":"PRO_5004878792"},{"type":"Non-terminal residue","location":{"start":{"value":288,"modifier":"EXACT"},"end":{"value":288,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48178.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023180"}],"id":"KW-0325","category":"PTM","name":"Glycoprotein"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022676"}],"id":"KW-0328","category":"Molecular function","name":"Glycosyltransferase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022989"}],"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022729"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"SignalP"}],"id":"KW-0732","category":"Domain","name":"Signal"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022679"},{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48178.1"}],"id":"KW-0808","category":"Molecular function","name":"Transferase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022692"}],"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022989"}],"id":"KW-1133","category":"Domain","name":"Transmembrane helix"}],"references":[{"referenceNumber":1,"citation":{"id":"14581810","citationType":"journal article","authors":["Maruo Y.","Serdaroglu E.","Iwai M.","Takahashi H.","Mori A.","Sato H."],"citationCrossReferences":[{"database":"PubMed","id":"14581810"},{"database":"DOI","id":"10.1097/00005176-200311000-00024"}],"title":"A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1.","publicationDate":"2003","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"627","lastPage":"630","volume":"37"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48178.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48178.1"}]},{"referenceNumber":2,"citation":{"id":"CI-E8DFH9KIN3MFH","citationType":"journal article","authors":["Maruo Y.","Verma C.","Matsui K.","Takahashi H.","Mimura Y.","Ota Y.","Mori A.","Sato H."],"title":"Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.","publicationDate":"2008","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"308","lastPage":"3011","volume":"46"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48178.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48178.1"}]},{"referenceNumber":3,"citation":{"id":"21297505","citationType":"journal article","authors":["Maruo Y.","Ozgenc F.","Mimura Y.","Ota Y.","Matsui K.","Takahashi H.","Sato H."],"citationCrossReferences":[{"database":"PubMed","id":"21297505"},{"database":"DOI","id":"10.1097/MPG.0b013e3181fcafb8"}],"title":"Compound heterozygote of a novel missense mutation (p.K402T) and a double missense mutation (p.[G71R;Y486D]) in type II Crigler-Najjar syndrome.","publicationDate":"2011","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"362","lastPage":"365","volume":"52"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48178.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48178.1"}]},{"referenceNumber":4,"citation":{"id":"CI-25V3VPIGOM7K1","citationType":"submission","authors":["Maruo Y.","Morioka Y.","Matsui K.","Mimura Y.","Nakahara S.","Yanagi T.","Mori A."],"title":"Novel mutations of bilirubin UDP-glucuronosyltransferase, UGT1A1.","publicationDate":"JAN-2013","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48178.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48178.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AB779753","properties":[{"key":"ProteinId","value":"BAO48178.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"W6JGU4","properties":[{"key":"Description","value":"-"}]},{"database":"CAZy","id":"GT1","properties":[{"key":"FamilyName","value":"Glycosyltransferase Family 1"}]},{"database":"PeptideAtlas","id":"W6JGU4","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"5835829at2759","properties":[{"key":"Description","value":"-"}]},{"database":"GO","id":"GO:0005783","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0016020","properties":[{"key":"GoTerm","value":"C:membrane"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0019899","properties":[{"key":"GoTerm","value":"F:enzyme binding"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0015020","properties":[{"key":"GoTerm","value":"F:glucuronosyltransferase activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-EC"}]},{"database":"GO","id":"GO:0046982","properties":[{"key":"GoTerm","value":"F:protein heterodimerization activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0042803","properties":[{"key":"GoTerm","value":"F:protein homodimerization activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0032787","properties":[{"key":"GoTerm","value":"P:monocarboxylic acid metabolic process"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"FunFam","id":"3.40.50.2000:FF:000066","properties":[{"key":"EntryName","value":"UDP-glucuronosyltransferase 1-1"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.2000","properties":[{"key":"EntryName","value":"Glycogen Phosphorylase B"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR050271","properties":[{"key":"EntryName","value":"UDP-glycosyltransferase"}]},{"database":"InterPro","id":"IPR002213","properties":[{"key":"EntryName","value":"UDP_glucos_trans"}]},{"database":"PANTHER","id":"PTHR48043","properties":[{"key":"EntryName","value":"EG:EG0003.4 PROTEIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR48043:SF161","properties":[{"key":"EntryName","value":"UDP GLUCURONOSYLTRANSFERASE FAMILY 1 MEMBER A1"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00201","properties":[{"key":"EntryName","value":"UDPGT"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53756","properties":[{"key":"EntryName","value":"UDP-Glycosyltransferase/glycogen phosphorylase"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLGAIQQLQQRGHEIVVLAPDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFENDSFLQCVIKTYKKIKKDSAMLLSGCSHLLHNKELMASLAESSFDVMLTDPFLPCSPIVAQYLSLPTVFFLHALPCSLEFEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFLCDVVYSPYATLASEFLQREVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVGGINCLHQNPLSQ","length":288,"molWeight":32171,"crc64":"34227CC4BA7CD76B","md5":"CC67A83F3813161929D69E37D7F797B8"},"extraAttributes":{"countByCommentType":{"CATALYTIC ACTIVITY":1,"SUBCELLULAR LOCATION":1,"SIMILARITY":1},"countByFeatureType":{"Signal":1,"Chain":1,"Non-terminal residue":1},"uniParcId":"UPI0003E32490"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"W6JHY2","uniProtkbId":"W6JHY2_HUMAN","entryAudit":{"firstPublicDate":"2014-04-16","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2014-04-16","entryVersion":38,"sequenceVersion":1},"annotationScore":2.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48181.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"3: Inferred from homology","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00012544"}],"value":"glucuronosyltransferase"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00012544"}],"value":"2.4.1.17"}]},"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48181.1"}],"value":"UGT1A1"}}],"comments":[{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"glucuronate acceptor + UDP-alpha-D-glucuronate = acceptor beta-D-glucuronoside + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:21032"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:132367"},{"database":"ChEBI","id":"CHEBI:132368"}],"ecNumber":"2.4.1.17","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00049912"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:21033"},"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00049912"}]}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004167"}],"value":"Membrane","id":"SL-0162"},"topology":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004167"}],"value":"Single-pass membrane protein","id":"SL-9904"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00009995"}],"value":"Belongs to the UDP-glycosyltransferase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Signal","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":27,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"SignalP"}]},{"type":"Chain","location":{"start":{"value":28,"modifier":"EXACT"},"end":{"value":287,"modifier":"EXACT"}},"description":"glucuronosyltransferase","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"SignalP"}],"featureId":"PRO_5004878490"},{"type":"Non-terminal residue","location":{"start":{"value":287,"modifier":"EXACT"},"end":{"value":287,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48181.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023180"}],"id":"KW-0325","category":"PTM","name":"Glycoprotein"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022676"}],"id":"KW-0328","category":"Molecular function","name":"Glycosyltransferase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022989"}],"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022729"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"SignalP"}],"id":"KW-0732","category":"Domain","name":"Signal"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022679"},{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48181.1"}],"id":"KW-0808","category":"Molecular function","name":"Transferase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022692"}],"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022989"}],"id":"KW-1133","category":"Domain","name":"Transmembrane helix"}],"references":[{"referenceNumber":1,"citation":{"id":"14581810","citationType":"journal article","authors":["Maruo Y.","Serdaroglu E.","Iwai M.","Takahashi H.","Mori A.","Sato H."],"citationCrossReferences":[{"database":"PubMed","id":"14581810"},{"database":"DOI","id":"10.1097/00005176-200311000-00024"}],"title":"A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1.","publicationDate":"2003","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"627","lastPage":"630","volume":"37"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48181.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48181.1"}]},{"referenceNumber":2,"citation":{"id":"CI-E8DFH9KIN3MFH","citationType":"journal article","authors":["Maruo Y.","Verma C.","Matsui K.","Takahashi H.","Mimura Y.","Ota Y.","Mori A.","Sato H."],"title":"Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.","publicationDate":"2008","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"308","lastPage":"3011","volume":"46"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48181.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48181.1"}]},{"referenceNumber":3,"citation":{"id":"21297505","citationType":"journal article","authors":["Maruo Y.","Ozgenc F.","Mimura Y.","Ota Y.","Matsui K.","Takahashi H.","Sato H."],"citationCrossReferences":[{"database":"PubMed","id":"21297505"},{"database":"DOI","id":"10.1097/MPG.0b013e3181fcafb8"}],"title":"Compound heterozygote of a novel missense mutation (p.K402T) and a double missense mutation (p.[G71R;Y486D]) in type II Crigler-Najjar syndrome.","publicationDate":"2011","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"362","lastPage":"365","volume":"52"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48181.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48181.1"}]},{"referenceNumber":4,"citation":{"id":"CI-25V3VPIGOM7K1","citationType":"submission","authors":["Maruo Y.","Morioka Y.","Matsui K.","Mimura Y.","Nakahara S.","Yanagi T.","Mori A."],"title":"Novel mutations of bilirubin UDP-glucuronosyltransferase, UGT1A1.","publicationDate":"JAN-2013","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48181.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48181.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AB779756","properties":[{"key":"ProteinId","value":"BAO48181.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"W6JHY2","properties":[{"key":"Description","value":"-"}]},{"database":"CAZy","id":"GT1","properties":[{"key":"FamilyName","value":"Glycosyltransferase Family 1"}]},{"database":"PeptideAtlas","id":"W6JHY2","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"5835829at2759","properties":[{"key":"Description","value":"-"}]},{"database":"GO","id":"GO:0005783","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0016020","properties":[{"key":"GoTerm","value":"C:membrane"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0019899","properties":[{"key":"GoTerm","value":"F:enzyme binding"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0015020","properties":[{"key":"GoTerm","value":"F:glucuronosyltransferase activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-EC"}]},{"database":"GO","id":"GO:0046982","properties":[{"key":"GoTerm","value":"F:protein heterodimerization activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0042803","properties":[{"key":"GoTerm","value":"F:protein homodimerization activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0032787","properties":[{"key":"GoTerm","value":"P:monocarboxylic acid metabolic process"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"FunFam","id":"3.40.50.2000:FF:000066","properties":[{"key":"EntryName","value":"UDP-glucuronosyltransferase 1-1"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.2000","properties":[{"key":"EntryName","value":"Glycogen Phosphorylase B"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR050271","properties":[{"key":"EntryName","value":"UDP-glycosyltransferase"}]},{"database":"InterPro","id":"IPR002213","properties":[{"key":"EntryName","value":"UDP_glucos_trans"}]},{"database":"PANTHER","id":"PTHR48043","properties":[{"key":"EntryName","value":"EG:EG0003.4 PROTEIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR48043:SF161","properties":[{"key":"EntryName","value":"UDP GLUCURONOSYLTRANSFERASE FAMILY 1 MEMBER A1"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00201","properties":[{"key":"EntryName","value":"UDPGT"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53756","properties":[{"key":"EntryName","value":"UDP-Glycosyltransferase/glycogen phosphorylase"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLGAIQQLQQRGHEIVVLAPDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFENDSFLQRVIKTYKKIKKDSAMLLSGCSHLLHKELMASLAESSFDVMLTDPFLPCSPIVAQYLSLPTVFFLHALPCSLEFEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFLCDVVYSPYATLASEFLQREVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVGGINCLHQNPLSQ","length":287,"molWeight":32110,"crc64":"1EF0F14CA1149507","md5":"12B8B79174BB1143EB0457FD13DE1778"},"extraAttributes":{"countByCommentType":{"CATALYTIC ACTIVITY":1,"SUBCELLULAR LOCATION":1,"SIMILARITY":1},"countByFeatureType":{"Signal":1,"Chain":1,"Non-terminal residue":1},"uniParcId":"UPI0003E32FA1"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"W6JIA6","uniProtkbId":"W6JIA6_HUMAN","entryAudit":{"firstPublicDate":"2014-04-16","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2014-04-16","entryVersion":38,"sequenceVersion":1},"annotationScore":2.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48177.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"3: Inferred from homology","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00012544"}],"value":"glucuronosyltransferase"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00012544"}],"value":"2.4.1.17"}]},"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48177.1"}],"value":"UGT1A1"}}],"comments":[{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"glucuronate acceptor + UDP-alpha-D-glucuronate = acceptor beta-D-glucuronoside + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:21032"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:132367"},{"database":"ChEBI","id":"CHEBI:132368"}],"ecNumber":"2.4.1.17","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00049912"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:21033"},"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00049912"}]}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004167"}],"value":"Membrane","id":"SL-0162"},"topology":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004167"}],"value":"Single-pass membrane protein","id":"SL-9904"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00009995"}],"value":"Belongs to the UDP-glycosyltransferase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Signal","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":27,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"SignalP"}]},{"type":"Chain","location":{"start":{"value":28,"modifier":"EXACT"},"end":{"value":288,"modifier":"EXACT"}},"description":"glucuronosyltransferase","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"SignalP"}],"featureId":"PRO_5004877476"},{"type":"Non-terminal residue","location":{"start":{"value":288,"modifier":"EXACT"},"end":{"value":288,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48177.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023180"}],"id":"KW-0325","category":"PTM","name":"Glycoprotein"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022676"}],"id":"KW-0328","category":"Molecular function","name":"Glycosyltransferase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022989"}],"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022729"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"SignalP"}],"id":"KW-0732","category":"Domain","name":"Signal"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022679"},{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48177.1"}],"id":"KW-0808","category":"Molecular function","name":"Transferase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022692"}],"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022989"}],"id":"KW-1133","category":"Domain","name":"Transmembrane helix"}],"references":[{"referenceNumber":1,"citation":{"id":"14581810","citationType":"journal article","authors":["Maruo Y.","Serdaroglu E.","Iwai M.","Takahashi H.","Mori A.","Sato H."],"citationCrossReferences":[{"database":"PubMed","id":"14581810"},{"database":"DOI","id":"10.1097/00005176-200311000-00024"}],"title":"A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1.","publicationDate":"2003","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"627","lastPage":"630","volume":"37"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48177.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48177.1"}]},{"referenceNumber":2,"citation":{"id":"CI-E8DFH9KIN3MFH","citationType":"journal article","authors":["Maruo Y.","Verma C.","Matsui K.","Takahashi H.","Mimura Y.","Ota Y.","Mori A.","Sato H."],"title":"Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.","publicationDate":"2008","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"308","lastPage":"3011","volume":"46"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48177.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48177.1"}]},{"referenceNumber":3,"citation":{"id":"21297505","citationType":"journal article","authors":["Maruo Y.","Ozgenc F.","Mimura Y.","Ota Y.","Matsui K.","Takahashi H.","Sato H."],"citationCrossReferences":[{"database":"PubMed","id":"21297505"},{"database":"DOI","id":"10.1097/MPG.0b013e3181fcafb8"}],"title":"Compound heterozygote of a novel missense mutation (p.K402T) and a double missense mutation (p.[G71R;Y486D]) in type II Crigler-Najjar syndrome.","publicationDate":"2011","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"362","lastPage":"365","volume":"52"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48177.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48177.1"}]},{"referenceNumber":4,"citation":{"id":"CI-25V3VPIGOM7K1","citationType":"submission","authors":["Maruo Y.","Morioka Y.","Matsui K.","Mimura Y.","Nakahara S.","Yanagi T.","Mori A."],"title":"Novel mutations of bilirubin UDP-glucuronosyltransferase, UGT1A1.","publicationDate":"JAN-2013","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48177.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48177.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AB779752","properties":[{"key":"ProteinId","value":"BAO48177.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"W6JIA6","properties":[{"key":"Description","value":"-"}]},{"database":"CAZy","id":"GT1","properties":[{"key":"FamilyName","value":"Glycosyltransferase Family 1"}]},{"database":"PeptideAtlas","id":"W6JIA6","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"5835829at2759","properties":[{"key":"Description","value":"-"}]},{"database":"GO","id":"GO:0005783","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0016020","properties":[{"key":"GoTerm","value":"C:membrane"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0019899","properties":[{"key":"GoTerm","value":"F:enzyme binding"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0015020","properties":[{"key":"GoTerm","value":"F:glucuronosyltransferase activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-EC"}]},{"database":"GO","id":"GO:0046982","properties":[{"key":"GoTerm","value":"F:protein heterodimerization activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0042803","properties":[{"key":"GoTerm","value":"F:protein homodimerization activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0032787","properties":[{"key":"GoTerm","value":"P:monocarboxylic acid metabolic process"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"FunFam","id":"3.40.50.2000:FF:000066","properties":[{"key":"EntryName","value":"UDP-glucuronosyltransferase 1-1"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.2000","properties":[{"key":"EntryName","value":"Glycogen Phosphorylase B"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR050271","properties":[{"key":"EntryName","value":"UDP-glycosyltransferase"}]},{"database":"InterPro","id":"IPR002213","properties":[{"key":"EntryName","value":"UDP_glucos_trans"}]},{"database":"PANTHER","id":"PTHR48043","properties":[{"key":"EntryName","value":"EG:EG0003.4 PROTEIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR48043:SF161","properties":[{"key":"EntryName","value":"UDP GLUCURONOSYLTRANSFERASE FAMILY 1 MEMBER A1"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00201","properties":[{"key":"EntryName","value":"UDPGT"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53756","properties":[{"key":"EntryName","value":"UDP-Glycosyltransferase/glycogen phosphorylase"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVNGSHWLSMLGAIQQLQQRGHEIVVLAPDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFENDSFLQRVIKTYKKIKKDSAMLLSGCSHLLHNKELMASLAESSFDVMLTDPFLPCSPIVAQYLSLPTVFFLHALPCSLEFEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFLCDVVYSPYATLASEFLQREVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVGGINCLHQNPLSQ","length":288,"molWeight":32224,"crc64":"39C17CD5B475B67A","md5":"39E601A0BD12882BC7B0A95C61CE874B"},"extraAttributes":{"countByCommentType":{"CATALYTIC ACTIVITY":1,"SUBCELLULAR LOCATION":1,"SIMILARITY":1},"countByFeatureType":{"Signal":1,"Chain":1,"Non-terminal residue":1},"uniParcId":"UPI0003E3F0C2"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0A346RP37","uniProtkbId":"A0A346RP37_HUMAN","entryAudit":{"firstPublicDate":"2018-11-07","lastAnnotationUpdateDate":"2025-10-08","lastSequenceUpdateDate":"2018-11-07","entryVersion":19,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67834.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"4: Predicted","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67834.1"}],"value":"UDP glucuronosyltransferase family 1 member A1"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67834.1"}],"value":"UGT1A1"}}],"features":[{"type":"Non-terminal residue","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67834.1"}]},{"type":"Non-terminal residue","location":{"start":{"value":59,"modifier":"EXACT"},"end":{"value":59,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67834.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022679"},{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67834.1"}],"id":"KW-0808","category":"Molecular function","name":"Transferase"}],"references":[{"referenceNumber":1,"citation":{"id":"30105552","citationType":"journal article","authors":["Chiddarwar A.S.","D'Silva S.Z.","Colah R.B.","Ghosh K.","Mukherjee M.B."],"citationCrossReferences":[{"database":"PubMed","id":"30105552"}],"title":"Genetic lesions in the UGT1A1 genes among Gilbert's syndrome patients from India.","publicationDate":"2018","journal":"Mol. Biol. Rep.","firstPage":"0","lastPage":"0","volume":"0"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67834.1"}]},{"referenceNumber":2,"citation":{"id":"CI-8MLUPSP6JDQQ9","citationType":"submission","authors":["Lanie J.A.","Ng W.-L.","Kazmierczak K.M.","Andrzejewski T.M.","Davidsen T.M.","Wayne K.J.","Tettelin H.","Glass J.I.","Rusch D.","Podicherti R.","Tsui H.-C.T.","Winkler M.E."],"publicationDate":"MAY-2018","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67834.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"MH385321","properties":[{"key":"ProteinId","value":"AXS67834.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"A0A346RP37","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"A0A346RP37","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"5835829at2759","properties":[{"key":"Description","value":"-"}]},{"database":"GO","id":"GO:0008194","properties":[{"key":"GoTerm","value":"F:UDP-glycosyltransferase activity"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"Gene3D","id":"3.40.50.2000","properties":[{"key":"EntryName","value":"Glycogen Phosphorylase B"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR002213","properties":[{"key":"EntryName","value":"UDP_glucos_trans"}]},{"database":"Pfam","id":"PF00201","properties":[{"key":"EntryName","value":"UDPGT"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53756","properties":[{"key":"EntryName","value":"UDP-Glycosyltransferase/glycogen phosphorylase"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"SHLLHNKELMASLAESSFDVMLTDSFLPCSPIVAQYLSLPTVFFLHALPCSLEFEATQC","length":59,"molWeight":6545,"crc64":"02A17250EEBEAF1B","md5":"749A7E17CA7BDF8FCA5BB22F8398FA6E"},"extraAttributes":{"countByFeatureType":{"Non-terminal residue":2},"uniParcId":"UPI000E8E5535"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0A346RP38","uniProtkbId":"A0A346RP38_HUMAN","entryAudit":{"firstPublicDate":"2018-11-07","lastAnnotationUpdateDate":"2025-10-08","lastSequenceUpdateDate":"2018-11-07","entryVersion":18,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67835.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"4: Predicted","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67835.1"}],"value":"UDP glucuronosyltransferase family 1 member A1"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67835.1"}],"value":"UGT1A1"}}],"features":[{"type":"Non-terminal residue","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67835.1"}]},{"type":"Non-terminal residue","location":{"start":{"value":59,"modifier":"EXACT"},"end":{"value":59,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67835.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022679"},{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67835.1"}],"id":"KW-0808","category":"Molecular function","name":"Transferase"}],"references":[{"referenceNumber":1,"citation":{"id":"30105552","citationType":"journal article","authors":["Chiddarwar A.S.","D'Silva S.Z.","Colah R.B.","Ghosh K.","Mukherjee M.B."],"citationCrossReferences":[{"database":"PubMed","id":"30105552"}],"title":"Genetic lesions in the UGT1A1 genes among Gilbert's syndrome patients from India.","publicationDate":"2018","journal":"Mol. Biol. Rep.","firstPage":"0","lastPage":"0","volume":"0"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67835.1"}]},{"referenceNumber":2,"citation":{"id":"CI-8MLUPSP6JDQQ9","citationType":"submission","authors":["Lanie J.A.","Ng W.-L.","Kazmierczak K.M.","Andrzejewski T.M.","Davidsen T.M.","Wayne K.J.","Tettelin H.","Glass J.I.","Rusch D.","Podicherti R.","Tsui H.-C.T.","Winkler M.E."],"publicationDate":"MAY-2018","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67835.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"MH385322","properties":[{"key":"ProteinId","value":"AXS67835.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"A0A346RP38","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"A0A346RP38","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"5835829at2759","properties":[{"key":"Description","value":"-"}]},{"database":"GO","id":"GO:0008194","properties":[{"key":"GoTerm","value":"F:UDP-glycosyltransferase activity"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"InterPro","id":"IPR002213","properties":[{"key":"EntryName","value":"UDP_glucos_trans"}]},{"database":"Pfam","id":"PF00201","properties":[{"key":"EntryName","value":"UDPGT"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"NPFSYVPRPLSSHSDHMTFLQRVKHMLIAFSQNFLCDVVYSPYATLASEFLQREVTVQD","length":59,"molWeight":6863,"crc64":"9D08F41337DF9D68","md5":"CB79AC6DA159B120258FCA37BEC82DF3"},"extraAttributes":{"countByFeatureType":{"Non-terminal residue":2},"uniParcId":"UPI000E9E1CC5"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0ACP2AC18","uniProtkbId":"A0ACP2AC18_HUMAN","entryAudit":{"firstPublicDate":"2026-11-04","lastAnnotationUpdateDate":"2026-11-04","lastSequenceUpdateDate":"2026-11-04","entryVersion":1,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648538.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"4: Predicted","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648538.1"}],"value":"UDP glucuronosyltransferase family 1 member A1"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648538.1"}],"value":"UGT1A1"}}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648538.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648538.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648538.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM2DDAQPFF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JUL-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648538.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AC006985","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"Ensembl","id":"ENST00000978721.1","properties":[{"key":"ProteinId","value":"ENSP00000648538.1"},{"key":"GeneId","value":"ENSG00000241635.9"}]},{"database":"HGNC","id":"HGNC:12530","properties":[{"key":"GeneName","value":"UGT1A1"}]},{"database":"OpenTargets","id":"ENSG00000241635","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000159677","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 2"}]}],"sequence":{"value":"MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLGAIQQLQQRGHEIVVLAPDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFENDSFLQRVIKTYKKIKKDSAMLLSGCSHLLHNKELMASLAESSFDVMLTDPFLPCSPIVAQYLSLPTVFFLHALPCSLEFEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFLCDVVYSPYATLASEFLQREVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVGGINCLHQNPLSQEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKRSSSQEDRCEELEHVQMRGDGTRGHTSLSKGQQGRTDD","length":472,"molWeight":52396,"crc64":"7198A63D0DF265B1","md5":"1C7DC71ED3760EFDF3637FFE059C81B3"},"extraAttributes":{"uniParcId":"UPI004934E556"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0ACP2HNS6","uniProtkbId":"A0ACP2HNS6_HUMAN","entryAudit":{"firstPublicDate":"2026-11-04","lastAnnotationUpdateDate":"2026-11-04","lastSequenceUpdateDate":"2026-11-04","entryVersion":1,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000778336.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"4: Predicted","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000778336.1"}],"value":"UDP glucuronosyltransferase family 1 member A1"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000778336.1"}],"value":"UGT1A1"}}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000778336.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000778336.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000778336.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM2DDAQPFF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JUL-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000778336.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AC006985","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"Ensembl","id":"ENST00001108531.1","properties":[{"key":"ProteinId","value":"ENSP00000778336.1"},{"key":"GeneId","value":"ENSG00000241635.9"}]},{"database":"HGNC","id":"HGNC:12530","properties":[{"key":"GeneName","value":"UGT1A1"}]},{"database":"OpenTargets","id":"ENSG00000241635","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000159677","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 2"}]}],"sequence":{"value":"MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLGAIQQLQQRGHEIVVLAPDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFENDSFLQRVIKTYKKIKKDSAMLLSGCSHLLHNKELMASLAESSFDVMLTDPFLPCSPIVAQYLSLPTVFFLHALPCSLEFEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFLCDVVYSPYATLASEFLQREVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVGGINCLHQNPLSQEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVRRFYTMASYLFSQER","length":348,"molWeight":38893,"crc64":"09B6E48AF8858D54","md5":"001A7DE1E404E0A9D3B86418B2E6DF33"},"extraAttributes":{"uniParcId":"UPI004933735D"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"W6JGV5","uniProtkbId":"W6JGV5_HUMAN","entryAudit":{"firstPublicDate":"2014-04-16","lastAnnotationUpdateDate":"2025-10-08","lastSequenceUpdateDate":"2014-04-16","entryVersion":31,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48179.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"4: Predicted","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48179.1"}],"value":"Bilirubin UDP-glucuronoslytransferase"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48179.1"}],"value":"UGT1A1"}}],"features":[{"type":"Signal","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":27,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"SignalP"}]},{"type":"Chain","location":{"start":{"value":28,"modifier":"EXACT"},"end":{"value":145,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"SignalP"}],"featureId":"PRO_5004878477"}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"SignalP"}],"id":"KW-0732","category":"Domain","name":"Signal"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022679"},{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48179.1"}],"id":"KW-0808","category":"Molecular function","name":"Transferase"}],"references":[{"referenceNumber":1,"citation":{"id":"14581810","citationType":"journal article","authors":["Maruo Y.","Serdaroglu E.","Iwai M.","Takahashi H.","Mori A.","Sato H."],"citationCrossReferences":[{"database":"PubMed","id":"14581810"},{"database":"DOI","id":"10.1097/00005176-200311000-00024"}],"title":"A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1.","publicationDate":"2003","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"627","lastPage":"630","volume":"37"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48179.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48179.1"}]},{"referenceNumber":2,"citation":{"id":"CI-E8DFH9KIN3MFH","citationType":"journal article","authors":["Maruo Y.","Verma C.","Matsui K.","Takahashi H.","Mimura Y.","Ota Y.","Mori A.","Sato H."],"title":"Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.","publicationDate":"2008","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"308","lastPage":"3011","volume":"46"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48179.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48179.1"}]},{"referenceNumber":3,"citation":{"id":"21297505","citationType":"journal article","authors":["Maruo Y.","Ozgenc F.","Mimura Y.","Ota Y.","Matsui K.","Takahashi H.","Sato H."],"citationCrossReferences":[{"database":"PubMed","id":"21297505"},{"database":"DOI","id":"10.1097/MPG.0b013e3181fcafb8"}],"title":"Compound heterozygote of a novel missense mutation (p.K402T) and a double missense mutation (p.[G71R;Y486D]) in type II Crigler-Najjar syndrome.","publicationDate":"2011","journal":"J. Pediatr. Gastroenterol. Nutr.","firstPage":"362","lastPage":"365","volume":"52"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48179.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48179.1"}]},{"referenceNumber":4,"citation":{"id":"CI-25V3VPIGOM7K1","citationType":"submission","authors":["Maruo Y.","Morioka Y.","Matsui K.","Mimura Y.","Nakahara S.","Yanagi T.","Mori A."],"title":"Novel mutations of bilirubin UDP-glucuronosyltransferase, UGT1A1.","publicationDate":"JAN-2013","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48179.1"}],"value":"Peripheral blood","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"BAO48179.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AB779754","properties":[{"key":"ProteinId","value":"BAO48179.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"W6JGV5","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"W6JGV5","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"5835829at2759","properties":[{"key":"Description","value":"-"}]},{"database":"GO","id":"GO:0008194","properties":[{"key":"GoTerm","value":"F:UDP-glycosyltransferase activity"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"InterPro","id":"IPR002213","properties":[{"key":"EntryName","value":"UDP_glucos_trans"}]},{"database":"Pfam","id":"PF00201","properties":[{"key":"EntryName","value":"UDPGT"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53756","properties":[{"key":"EntryName","value":"UDP-Glycosyltransferase/glycogen phosphorylase"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLGAIQQLQQRGHEIVVLAPDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFENDSFLQRVIKTYKKIKKGLCYAFVWLFPLTAQQGAHGLPGRKQL","length":145,"molWeight":16085,"crc64":"0EB77759CA2FC25A","md5":"846540EF47C460A922D37A42CB255D03"},"extraAttributes":{"countByFeatureType":{"Signal":1,"Chain":1},"uniParcId":"UPI0003E35D3D"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0A346RP36","uniProtkbId":"A0A346RP36_HUMAN","entryAudit":{"firstPublicDate":"2018-11-07","lastAnnotationUpdateDate":"2025-10-08","lastSequenceUpdateDate":"2018-11-07","entryVersion":18,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67833.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"4: Predicted","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67833.1"}],"value":"UDP glucuronosyltransferase family 1 member A1"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67833.1"}],"value":"UGT1A1"}}],"features":[{"type":"Non-terminal residue","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67833.1"}]},{"type":"Non-terminal residue","location":{"start":{"value":59,"modifier":"EXACT"},"end":{"value":59,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67833.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022679"},{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67833.1"}],"id":"KW-0808","category":"Molecular function","name":"Transferase"}],"references":[{"referenceNumber":1,"citation":{"id":"30105552","citationType":"journal article","authors":["Chiddarwar A.S.","D'Silva S.Z.","Colah R.B.","Ghosh K.","Mukherjee M.B."],"citationCrossReferences":[{"database":"PubMed","id":"30105552"}],"title":"Genetic lesions in the UGT1A1 genes among Gilbert's syndrome patients from India.","publicationDate":"2018","journal":"Mol. Biol. Rep.","firstPage":"0","lastPage":"0","volume":"0"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67833.1"}]},{"referenceNumber":2,"citation":{"id":"CI-8MLUPSP6JDQQ9","citationType":"submission","authors":["Lanie J.A.","Ng W.-L.","Kazmierczak K.M.","Andrzejewski T.M.","Davidsen T.M.","Wayne K.J.","Tettelin H.","Glass J.I.","Rusch D.","Podicherti R.","Tsui H.-C.T.","Winkler M.E."],"publicationDate":"MAY-2018","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AXS67833.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"MH385320","properties":[{"key":"ProteinId","value":"AXS67833.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"A0A346RP36","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"A0A346RP36","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"5835829at2759","properties":[{"key":"Description","value":"-"}]},{"database":"GO","id":"GO:0008194","properties":[{"key":"GoTerm","value":"F:UDP-glycosyltransferase activity"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"InterPro","id":"IPR002213","properties":[{"key":"EntryName","value":"UDP_glucos_trans"}]},{"database":"Pfam","id":"PF00201","properties":[{"key":"EntryName","value":"UDPGT"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"GKILLIPVDGSHWLSMLGAIQQLQQRGREIVVLAPDASLYIRDGAFYTLKTYPVPFQRE","length":59,"molWeight":6671,"crc64":"C331AC49C1D548CA","md5":"6624293FA23371306B331DEC343A9344"},"extraAttributes":{"countByFeatureType":{"Non-terminal residue":2},"uniParcId":"UPI000E8E406E"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0ACP2AC20","uniProtkbId":"A0ACP2AC20_HUMAN","entryAudit":{"firstPublicDate":"2026-11-04","lastAnnotationUpdateDate":"2026-11-04","lastSequenceUpdateDate":"2026-11-04","entryVersion":1,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648537.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"4: Predicted","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648537.1"}],"value":"UDP glucuronosyltransferase family 1 member A1"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648537.1"}],"value":"UGT1A1"}}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648537.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648537.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648537.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM2DDAQPFF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JUL-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648537.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AC006985","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"Ensembl","id":"ENST00000978720.1","properties":[{"key":"ProteinId","value":"ENSP00000648537.1"},{"key":"GeneId","value":"ENSG00000241635.9"}]},{"database":"HGNC","id":"HGNC:12530","properties":[{"key":"GeneName","value":"UGT1A1"}]},{"database":"OpenTargets","id":"ENSG00000241635","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000159677","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 2"}]}],"sequence":{"value":"MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLGAIQQLQQRGHEIVVLAPDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFENDSFLQRVIKTYKKIKKDSAMLLSGCSHLLHNKELMASLAESSFDVMLTDPFLPCSPIVAQYLSLPTVFFLHALPCSLEFEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFLCDVVYSPYATLASEFLQREVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVGGINCLHQNPLSQVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH","length":489,"molWeight":54959,"crc64":"FC1307D7A28A91F1","md5":"47A02DB5F0DCBBC810416B41CE89FFF5"},"extraAttributes":{"uniParcId":"UPI0049324C06"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0ACP2AC17","uniProtkbId":"A0ACP2AC17_HUMAN","entryAudit":{"firstPublicDate":"2026-11-04","lastAnnotationUpdateDate":"2026-11-04","lastSequenceUpdateDate":"2026-11-04","entryVersion":1,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648536.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"4: Predicted","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648536.1"}],"value":"UDP glucuronosyltransferase family 1 member A1"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648536.1"}],"value":"UGT1A1"}}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648536.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648536.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648536.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM2DDAQPFF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JUL-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000648536.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AC006985","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"Ensembl","id":"ENST00000978719.1","properties":[{"key":"ProteinId","value":"ENSP00000648536.1"},{"key":"GeneId","value":"ENSG00000241635.9"}]},{"database":"HGNC","id":"HGNC:12530","properties":[{"key":"GeneName","value":"UGT1A1"}]},{"database":"OpenTargets","id":"ENSG00000241635","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000159677","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 2"}]}],"sequence":{"value":"MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLGAIQQLQQRGHEIVVLAPDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFENDSFLQRVIKTYKKIKKDSAMLLSGCSHLLHNKELMASLAESSFDVMLTDPFLPCSPIVAQYLSLPTVFFLHALPCSLEFEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFLCDVVYSPYATLASEFLQREEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH","length":486,"molWeight":54288,"crc64":"26B48F95CD68C527","md5":"57D0D47A4A0FC6B201304734D60EC869"},"extraAttributes":{"uniParcId":"UPI0049336529"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0ACP2IMX2","uniProtkbId":"A0ACP2IMX2_HUMAN","entryAudit":{"firstPublicDate":"2026-11-04","lastAnnotationUpdateDate":"2026-11-04","lastSequenceUpdateDate":"2026-11-04","entryVersion":1,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000791040.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"4: Predicted","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000791040.1"}],"value":"UDP glucuronosyltransferase family 1 member A1"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000791040.1"}],"value":"UGT1A1"}}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000791040.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000791040.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000791040.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM2DDAQPFF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JUL-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000791040.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AC006985","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"Ensembl","id":"ENST00001121235.1","properties":[{"key":"ProteinId","value":"ENSP00000791040.1"},{"key":"GeneId","value":"ENSG00000241635.9"}]},{"database":"HGNC","id":"HGNC:12530","properties":[{"key":"GeneName","value":"UGT1A1"}]},{"database":"OpenTargets","id":"ENSG00000241635","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000159677","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 2"}]}],"sequence":{"value":"MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLGAIQQLQQRGHEIVVLAPDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFENDSFLQRVIKTYKKIKKDSAMLLSGCSHLLHNKELMASLAESSFDVMLTDPFLPCSPIVAQYLSLPTVFFLHALPCSLEFEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFLCDVVYSPYATLASEFLQREVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVGGINCLHQNPLSQEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKRSSSQEDRCEELEHVQMRGDGTRGHTSLSKGQQGRTDD","length":472,"molWeight":52396,"crc64":"7198A63D0DF265B1","md5":"1C7DC71ED3760EFDF3637FFE059C81B3"},"extraAttributes":{"uniParcId":"UPI004934E556"}}]}