Aliases for UGT1A1 Gene
- UGT1 3 4
- UDP Glucuronosyltransferase 1 Family, Polypeptide A1 3
- Bilirubin UDP-Glucuronosyltransferase Isozyme 1 3
- Bilirubin UDP-Glucuronosyltransferase 1-1 3
- UDP-Glucuronosyltransferase 1A Isoform 1 4
- Bilirubin UDP-Glucuronosyltranserase 3
- UDP-Glucuronosyltransferase 1-A 3
- UDP-Glucuronosyltransferase 1-1 4
- UDP-Glucuronosyltransferase 1A 3
- BILIQTL1 3
- UGT-1A 3
- UGT1A1 5
- UDPGT 3
External Ids for UGT1A1 Gene
Previous HGNC Symbols for UGT1A1 Gene
Previous GeneCards Identifiers for UGT1A1 Gene
This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008]
GeneCards Summary for UGT1A1 Gene
UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1) is a Protein Coding gene. Diseases associated with UGT1A1 include Crigler-Najjar Syndrome, Type Ii and Crigler-Najjar Syndrome, Type I. Among its related pathways are Drug metabolism - cytochrome P450 and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is UGT1A5.
UniProtKB/Swiss-Prot Summary for UGT1A1 Gene
[Isoform 1]: 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). 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). 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).
[Isoform 2]: Lacks UGT glucuronidation activity but acts as a negative regulator of isoform 1.