UGT1A1

Name

UDP glucuronosyltransferase family 1 member A1

Type

protein-coding

Position

233,760,262–233,773,313 (+)

Aliases

BILIQTL1, GNT1, HUG-BR1, UDPGT, UDPGT 1-1, UGT1, UGT1A

Ensembl

ENSG00000241635

RefSeq RNA

NM_000463.3

RefSeq protein

NP_000454.1

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].

via MyGene.info

Gene · Ensembl

UDP glucuronosyltransferase family 1 member A1

Symbol

UGT1A1

Biotype

Protein coding

Organism

Homo sapiens

Location

2:233,760,262-233,773,313

Strand

Forward (+)

Assembly

GRCh38