UGT1A1 Chromosome 2
UDP glucuronosyltransferase family 1 member A1
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What This Gene Does
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]
Gene Info
Gene Group
UDP glucuronosyltransferases
Locus Type
complex locus constituent
Location
2q37.1
Ensembl
ENSG00000241635
Associated Conditions (12)
Gilbert syndrome
irinotecan response - Toxicity
BILIRUBIN
SERUM LEVEL OF
QUANTITATIVE TRAIT LOCUS 1
Lucey-Driscoll syndrome
Crigler-Najjar syndrome
type II
Crigler-Najjar syndrome type 1
UGT1A1-related disorder
Hyperbilirubinemia
Inborn genetic diseases
Key Variants
RS10929302
drug response
Gilbert syndrome, irinotecan response - Toxicity, Gilbert syndrome
Drug Response
RS6742078
Benign; association
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
Health Risk
RS114982090
Conflicting classifications of pathogenicity
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
Health Risk
RS1183811071
Conflicting classifications of pathogenicity
Health Risk
RS1283652721
Conflicting classifications of pathogenicity
Health Risk
RS138183896
Conflicting classifications of pathogenicity
Lucey-Driscoll syndrome, Gilbert syndrome, Crigler-Najjar syndrome
Health Risk
RS142077822
Conflicting classifications of pathogenicity
Gilbert syndrome, Gilbert syndrome
Health Risk
RS144217005
Conflicting classifications of pathogenicity
Lucey-Driscoll syndrome, Crigler-Najjar syndrome, Gilbert syndrome
Health Risk
RS148755655
Conflicting classifications of pathogenicity
Gilbert syndrome, Crigler-Najjar syndrome, Lucey-Driscoll syndrome
Health Risk
RS149071335
Conflicting classifications of pathogenicity
UGT1A1-related disorder, UGT1A1-related disorder
Health Risk
RS190427553
Conflicting classifications of pathogenicity
Gilbert syndrome, Crigler-Najjar syndrome, Lucey-Driscoll syndrome
Health Risk
RS191471887
Conflicting classifications of pathogenicity
Gilbert syndrome, Crigler-Najjar syndrome, Lucey-Driscoll syndrome
Health Risk
All Variants (87)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2125987779 | Health Risk | Pathogenic | Gilbert syndrome, Gilbert syndrome |
| RS2125989162 | Health Risk | Pathogenic | — |
| RS2125989471 | Health Risk | Pathogenic | Gilbert syndrome, Crigler-Najjar syndrome type 1, Lucey-Driscoll syndrome |
| RS2126038122 | Health Risk | Pathogenic | Gilbert syndrome, Gilbert syndrome |
| RS2472939479 | Health Risk | Pathogenic | — |
| RS2473171944 | Health Risk | Pathogenic | Lucey-Driscoll syndrome, Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome |
| RS281865418 | Health Risk | Pathogenic | Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 1 |
| RS367897068 | Health Risk | Pathogenic | Crigler-Najjar syndrome, Crigler-Najjar syndrome |
| RS372326047 | Health Risk | Pathogenic | — |
| RS3755319 | Health Risk | Pathogenic | Lucey-Driscoll syndrome, Lucey-Driscoll syndrome |
| RS587776761 | Health Risk | Pathogenic | Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 1 |
| RS587776763 | Health Risk | Pathogenic | Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 1 |
| RS587776766 | Health Risk | Pathogenic | Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 1 |
| RS72551340 | Health Risk | Pathogenic | Crigler-Najjar syndrome, Crigler-Najjar syndrome |
| RS72551345 | Health Risk | Pathogenic | Crigler-Najjar syndrome, type II, Crigler-Najjar syndrome |
| RS72551350 | Health Risk | Pathogenic | — |
| RS72551353 | Health Risk | Pathogenic | Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome, Crigler-Najjar syndrome type 1 |
| RS745655794 | Health Risk | Pathogenic | — |
| RS766536479 | Health Risk | Pathogenic | Crigler-Najjar syndrome, Crigler-Najjar syndrome |
| RS797046090 | Health Risk | Pathogenic | Hyperbilirubinemia, UGT1A1-related disorder, Hyperbilirubinemia |
| RS797046091 | Health Risk | Pathogenic | Hyperbilirubinemia, Crigler-Najjar syndrome type 1, UGT1A1-related disorder |
| RS1559406508 | Health Risk | Pathogenic; other | Gilbert syndrome, UGT1A1-related disorder, Gilbert syndrome |
| RS1373930486 | Health Risk | Pathogenic/Likely pathogenic | Gilbert syndrome, Gilbert syndrome |
| RS1424603943 | Health Risk | Pathogenic/Likely pathogenic | BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 |
| RS1553620849 | Health Risk | Pathogenic/Likely pathogenic | Crigler-Najjar syndrome, Crigler-Najjar syndrome |
| RS2126038220 | Health Risk | Pathogenic/Likely pathogenic | Gilbert syndrome, Crigler-Najjar syndrome type 1, BILIRUBIN |
| RS34993780 | Health Risk | Pathogenic/Likely pathogenic | Crigler-Najjar syndrome, type II, Lucey-Driscoll syndrome |
| RS558109660 | Health Risk | Pathogenic/Likely pathogenic | Crigler-Najjar syndrome, type II, Lucey-Driscoll syndrome |
| RS56059937 | Health Risk | Pathogenic/Likely pathogenic | Gilbert syndrome, Crigler-Najjar syndrome type 1, Gilbert syndrome |
| RS587776762 | Health Risk | Pathogenic/Likely pathogenic | Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome, type II |
| RS587776764 | Health Risk | Pathogenic/Likely pathogenic | Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome, type II |
| RS587784535 | Health Risk | Pathogenic/Likely pathogenic | Hyperbilirubinemia, Hyperbilirubinemia |
| RS62625011 | Health Risk | Pathogenic/Likely pathogenic | Crigler-Najjar syndrome type 1, Gilbert syndrome, UGT1A1-related disorder |
| RS72551343 | Health Risk | Pathogenic/Likely pathogenic | Crigler-Najjar syndrome, Inborn genetic diseases, type II |
| RS72551349 | Health Risk | Pathogenic/Likely pathogenic | Crigler-Najjar syndrome type 1, Gilbert syndrome, UGT1A1-related disorder |
| RS748219743 | Health Risk | Pathogenic/Likely pathogenic | Crigler-Najjar syndrome type 1, Inborn genetic diseases, Gilbert syndrome |
| RS775463336 | Health Risk | Pathogenic/Likely pathogenic | UGT1A1-related disorder, Inborn genetic diseases, UGT1A1-related disorder |