Skip to content
GenoLensGenoLens

UGT1A1

Chr 2q37.1

UDP glucuronosyltransferase family 1 member A1

Aliases:
UGT1A
MANE:
ENST00000305208.10
OMIM: 191740 ↗NCBI: 54658 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Cholestasis

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal

  • Neonatal cholestasis

    BIALLELIC, autosomal or pseudoautosomal

  • Undiagnosed metabolic disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Childhood onset dystonia, chorea or related movement disorder

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

+1 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

  • Crigler-Najjar syndrome type 1

    0.84

  • Crigler-Najjar syndrome type 2

    0.83

  • Gilbert syndrome

    0.81

  • Crigler-Najjar syndrome

    0.75

  • bilirubin metabolism disease

    0.66

  • porphyrin metabolism disease

    0.65

  • transient familial neonatal hyperbilirubinemia

    0.64

  • Hyperbilirubinemia

    0.60

  • hereditary disease

    0.51

  • cholelithiasis

    0.50

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

UDP-glucuronosyltransferase 1A1

UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:12181437, PubMed:15472229, PubMed:18004206, PubMed:18004212, PubMed:18719240, PubMed:19830808, PubMed:23288867, PubMed:15231852, PubMed:21422672, PubMed:38211441). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:12181437, PubMed:18004206, PubMed:18004212). Catalyzes the glucuronidation of endogenous estrogen hormones such as estradiol, estrone and estriol (PubMed:15472229, PubMed:18719240, PubMed:23288867). Involved in the glucuronidation of bilirubin, a degradation product occurring in the normal catabolic pathway that breaks down heme in vertebrates (PubMed:17187418, PubMed:18004206, PubMed:19830808, PubMed:24525562). Involved in the glucuronidation of arachidonic acid (AA) and AA-derived eicosanoids including 15-HETE, 20-HETE, PGB1 and F2-isoprostane (8-iso-PGF2alpha) (PubMed:15231852, PubMed:38211441). Involved in the glucuronidation of the phytochemical ferulic acid at the phenolic or the carboxylic acid group (PubMed:21422672). Also catalyzes the glucuronidation the isoflavones genistein, daidzein, glycitein, formononetin, biochanin A and prunetin, which are phytoestrogens with anticancer and cardiovascular properties (PubMed:18052087, PubMed:19545173). Involved in the glucuronidation of the AGTR1 angiotensin receptor antagonist losartan, a drug which can inhibit the effect of angiotensin II (PubMed:18674515). Involved in the biotransformation of 7-ethyl-10-hydroxycamptothecin (SN-38), the pharmacologically active metabolite of the anticancer drug irinotecan (PubMed:12181437, PubMed:18004212, PubMed:20610558)

Diseases associated with UGT1A1

Curated MONDO disease pages that list UGT1A1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.