Aliases for UGT1A1 Gene
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 I and Crigler-Najjar Syndrome, Type Ii. 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 UGT1A3.
UniProtKB/Swiss-Prot for UGT1A1 Gene
UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4-methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1.