UDP-Glycosyltransferase 1 Family, Polypeptide A4

Alternative Names

  • UGT1A4
  • UGT1D
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OMIM Number

606429

NCBI Gene ID

54657

Uniprot ID

P22310

Length

54,565 bases

No. of Exons

5

No. of isoforms

2

Protein Name

UDP-glucuronosyltransferase 1A4

Molecular Mass

60025 Da

Amino Acid Count

534

Genomic Location

chr2:233,718,735-233,773,299

Gene Map Locus
2q37.1

Description

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. This enzyme has some glucuronidase activity towards bilirubin, although is is more active on amines, steroids, and sapogenins. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_007120.3:c.142T>GUnited Arab EmiratesNC_000002.12:g.233718962T>GNM_007120.3:c.142T>G; NP_009051.1:p.Leu48Val2011425
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