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Gene information for UGT1A1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID54658
Official gene symbolUGT1A1
Full nameUDP glucuronosyltransferase 1 family, polypeptide A1
Aliases,GNT1,HUG-BR1,UDPGT,UDPGT 1-1,UGT1,UGT1A,
Gene summaryThis 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]
LocationChromosome: 2   Locus: 2q37
Gene position234668919 - 234681945  Map Viewer
Gene orientationplus
Gene size13027 bp
Gene sequence
OMIM ID191740