UGT1A1 - UDP glucuronosyltransferase family 1 member A1 Gene
Also Known as GNT1; UGT1; UDPGT; UGT1A; HUG-BR1; BILIQTL1; UDPGT 1-1
Species: Homo sapiens
About UGT1A1
This gene has 2 transcripts (splice variants), 471 orthologues, 21 paralogues and is associated with 10 phenotypes.
Summary
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]
UGT1A1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000463.3 | NP_000454.1 | UDP-glucuronosyltransferase 1A1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables enzyme binding |
IPI
IPI: Inferred from physical interaction
|
17179145 | GOA |
| enables enzyme inhibitor activity |
IDA
IDA: Inferred from direct assay
|
19996319 | GOA |
| enables glucuronosyltransferase activity |
IDA
IDA: Inferred from direct assay
|
1898728 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
20610558 | GOA |
| enables protein heterodimerization activity |
IPI
IPI: Inferred from physical interaction
|
20610558 | GOA |
| enables protein homodimerization activity |
IDA
IDA: Inferred from direct assay
|
17179145 | GOA |
| enables retinoic acid binding |
IDA
IDA: Inferred from direct assay
|
20308471 | GOA |
| enables steroid binding |
IDA
IDA: Inferred from direct assay
|
19996319 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cellular glucuronidation |
IDA
IDA: Inferred from direct assay
|
15472229 | GOA |
| involved in estrogen metabolic process |
IDA
IDA: Inferred from direct assay
|
15472229 | GOA |
| involved in flavone metabolic process |
IDA
IDA: Inferred from direct assay
|
18052087 | GOA |
| involved in flavonoid glucuronidation |
IDA
IDA: Inferred from direct assay
|
20056724 | GOA |
| involved in negative regulation of cellular glucuronidation |
IDA
IDA: Inferred from direct assay
|
18004212 | GOA |
| involved in xenobiotic glucuronidation |
IDA
IDA: Inferred from direct assay
|
15472229 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
17179145 | GOA |
UGT1A1 Protein Structure
UDPGT: UDP-glucoronosyl and UDP-glucosyl transferase (28 - 524)
- 0
- 100
- 200
- 300
- 400
- 500
- 533 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
UDP-glucuronosyltransferase 1A1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Crigler-Najjar Syndrome, Type I |
|
|
| Crigler-Najjar Syndrome, Type Ii |
|
|
| Gilbert Syndrome |
|
|
| Hyperbilirubinemia, Transient Familial Neonatal |
|
|
| Bilirubin, Serum Level Of, Quantitative Trait Locus 1 |
|
|
| Bilirubin Metabolic Disorder |
|
|
| Kernicterus |
|
|
| Neonatal Jaundice |
|
|
| Cholelithiasis |
|
|
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
|
| Neutropenia |
|
|
| Hereditary Spherocytosis |
|
|
| Glucosephosphate Dehydrogenase Deficiency |
|
|
| Choledocholithiasis |
|
|
| Thalassemia |
|
|
| Alpha-Thalassemia |
|
|
| Beta-Thalassemia |
|
|
| Pigmentation Disease |
|
|
| Sickle Cell Disease |
|
|
| Liver Disease |
|
|
| Diarrhea |
|
|
| Hemolytic Anemia |
|
|
| Autoimmune Hepatitis |
|
|
| Epicardium Cancer |
|
|
| Colorectal Cancer |
|
|
| Acetaminophen Metabolism |
|
|
| Dihydropyrimidine Dehydrogenase Deficiency |
|
|
| Blood Group Incompatibility |
|
|
| Coumarin Resistance |
|
|
| Thiopurines, Poor Metabolism Of, 1 |
|
|
| Nephrotic Syndrome, Type 20 |
|
|
| Endometrial Cancer |
|
|
| Lung Cancer |
|
|
| Autosomal Dominant Beta Thalassemia |
|
|
| Sickle Cell Anemia |
|
|
| Breast Cancer |
|
|
| Autism Spectrum Disorder |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | UGT1A1 | MGD | MGI:98898 |
| Rattus norvegicus | UGT1A1 | RGD | RGD:3935 |