UGT1A10: UDP-Glucuronosyltransferase Family 1 Member A10
A key enzyme in phase II drug metabolism and bilirubin clearance, with implications in inherited disorders and cancer susceptibility.
Gene Information Card
| Symbol | UGT1A10 |
|---|---|
| Full Name | UDP Glucuronosyltransferase Family 1 Member A10 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 54575 ncbi.nlm.nih.gov/gene/54575 |
| Ensembl ID | ENSG00000213341 |
| UniProt ID | Q9HAW8 |
| OMIM ID | 606429 |
| HGNC ID | 12538 |
| Aliases | UGT1A10, UDP-glucuronosyltransferase 1-10, UGT1A10p, UGT1-10, UGT1A10v1 |
Description
UGT1A10 encodes a member of the UDP-glucuronosyltransferase (UGT) family, which catalyzes the glucuronidation of endogenous substrates (e.g., bilirubin, hormones) and xenobiotics (e.g., drugs, carcinogens). This enzyme is expressed in the gastrointestinal tract and liver, and plays a role in the detoxification of dietary and environmental compounds. Genetic variants in UGT1A10 are associated with altered drug metabolism and susceptibility to hyperbilirubinemia disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Crigler-Najjar syndrome type 1 | Complete loss of UGT1A1 activity due to mutations in the UGT1A locus; UGT1A10 variants may contribute to residual activity or modify phenotype. | OMIM #218800 |
| Crigler-Najjar syndrome type 2 | Partial deficiency of UGT1A1; UGT1A10 polymorphisms can influence bilirubin glucuronidation capacity. | OMIM #606785 |
| Gilbert syndrome | Reduced UGT1A1 promoter activity; UGT1A10 variants may modulate bilirubin levels. | OMIM #143500 |
| Drug-induced hyperbilirubinemia | UGT1A10 polymorphisms affect glucuronidation of drugs (e.g., irinotecan, acetaminophen), leading to elevated bilirubin. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 0.2 | Low |
| Small intestine | 12.5 | High |
| Colon | 8.3 | Medium |
| Kidney | 1.1 | Low |
| Stomach | 4.6 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.1 | Low expression |
| Caco-2 | 15.0 | High expression (intestinal model) |
| LS180 | 9.8 | Medium expression (colon adenocarcinoma) |
| HEK293 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.247G>A (p.Gly83Arg) | missense | 0.02% | Reduced enzyme activity in vitro |
| c.644T>C (p.Ile215Thr) | missense | 0.01% | Altered substrate specificity |
| c.1171C>T (p.Arg391Cys) | missense | 0.03% | Decreased glucuronidation capacity |
Mutation functional classification
Loss of Function (LOF)
Mutations that abolish or severely reduce UGT1A10 enzymatic activity (e.g., start codon loss, critical residue substitutions) lead to impaired glucuronidation of bilirubin and drugs.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in UGT1A10.
Dominant Negative (DN)
No evidence of dominant-negative effects for UGT1A10 variants.
View complete mutation data：
Gene Ontology (GO)
| • metabolic process (GO:0008152) | • glucuronosyltransferase activity (GO:0015020) |
| • endoplasmic reticulum (GO:0005783) | • xenobiotic metabolic process (GO:0006805) |
| • xenobiotic catabolic process (GO:0042178) | • cellular glucuronidation (GO:0052695) |
Pathways
• Bilirubin metabolism (Reactome: R-HSA-189483)
• Glucuronidation (Reactome: R-HSA-156588)
• Phase II - conjugation of compounds (KEGG: map00982)
Protein Summary
UGT1A10 is a 530-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the transfer of glucuronic acid from UDP-glucuronic acid to a variety of lipophilic substrates, including bilirubin, steroids, and drugs. The enzyme is highly expressed in the gastrointestinal tract, particularly the small intestine and colon, and contributes to first-pass metabolism of orally ingested compounds. Structural studies indicate a conserved N-terminal substrate-binding domain and a C-terminal UDP-glucuronic acid-binding domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UGT1A10 Knockout HEK293 Cell Line | EDJ-KQ51374 | Human | 54575 | Details Get a Quote |
| UGT1A10 Knockout HeLa Cell Line | EDJ-KQ56441 | Human | 54575 | Details Get a Quote |
| UGT1A10 Knockout A-549 Cell Line | EDJ-KQ64935 | Human | 54575 | Details Get a Quote |
| UGT1A10 Knockout HCT 116 Cell Line | EDJ-KQ73377 | Human | 54575 | Details Get a Quote |
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