Harmonizome 3.0

UDP glucuronosyltransferase 1 family, polypeptide A1

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]

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ugt1a1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for UGT1A1 from the Pathway Commons Protein-Protein Interactions dataset.

From Reactome Pathways 2014

proteins participating in the Defective UGT1A1 causes hyperbilirubinemia pathway from the Reactome Pathways dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Ugt1A1 Gene Polymorphism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From Reactome Pathways 2024

proteins participating in the Defective UGT1A1 causes hyperbilirubinemia pathway from the Reactome Pathways 2024 dataset.