UGT1A6
UDP Glucuronosyltransferase Family 1 Member A6
Gene Information Card
| Symbol | UGT1A6 |
|---|---|
| Full Name | UDP Glucuronosyltransferase Family 1 Member A6 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 54578 ncbi.nlm.nih.gov/gene/54578 |
| Ensembl ID | ENSG00000241635 |
| UniProt ID | P19224 |
| OMIM ID | 606431 |
| HGNC ID | 12536 |
| Aliases | UGT1A6, UGT1A6A, UGT1A6B, UGT1A6C, UGT1A6D, UGT1A6E, UGT1A6F, UGT1A6G, UGT1A6H, UGT1A6I, UGT1A6J, UGT1A6K, UGT1A6L, UGT1A6M, UGT1A6N, UGT1A6O, UGT1A6P, UGT1A6Q, UGT1A6R, UGT1A6S, UGT1A6T, UGT1A6U, UGT1A6V, UGT1A6W, UGT1A6X, UGT1A6Y, UGT1A6Z |
Description
UGT1A6 encodes a UDP-glucuronosyltransferase enzyme that catalyzes the glucuronidation of small lipophilic substrates such as bilirubin, hormones, and drugs. This enzyme is part of the UGT1A family and is primarily expressed in the liver and gastrointestinal tract. Genetic polymorphisms in UGT1A6 are associated with altered drug metabolism and susceptibility to certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gilbert syndrome | Reduced UGT1A6 activity leads to mild unconjugated hyperbilirubinemia | ClinVar, OMIM |
| Crigler-Najjar syndrome type 2 | Severe deficiency of UGT1A6 activity causes marked unconjugated hyperbilirubinemia | OMIM |
| Colorectal cancer | Polymorphisms in UGT1A6 may alter glucuronidation of carcinogens and influence cancer risk | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Small intestine | 8.2 | Medium |
| Kidney | 4.1 | Low |
| Colon | 3.5 | Low |
| Stomach | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Liver cancer cell line |
| Caco-2 | 9.7 | Colorectal adenocarcinoma cell line |
| HEK293 | 1.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.181G>A (p.Gly61Arg) | missense | 0.5% in European populations | Reduced enzyme activity |
| c.686C>T (p.Pro229Leu) | missense | 1.2% in Asian populations | Altered substrate specificity |
| c.1000G>A (p.Val334Ile) | missense | 0.8% in African populations | Decreased glucuronidation capacity |
Mutation functional classification
Loss of Function (LOF)
c.181G>A (p.Gly61Arg) reduces enzyme activity by >50%
Gain of Function (GOF)
None reported
Dominant Negative (DN)
None reported
View complete mutation data：
Gene Ontology (GO)
| • glucuronosyltransferase activity (GO:0015020) | • metabolic process (GO:0008152) |
| • endoplasmic reticulum (GO:0005783) | • transferase activity (GO:0016758) |
Pathways
• Bilirubin metabolism (Reactome: R-HSA-189483)
• Glucuronidation (Reactome: R-HSA-156588)
• Phase I - Functionalization of compounds (Reactome: R-HSA-211945)
Protein Summary
UGT1A6 is a 533-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the conjugation of glucuronic acid to a variety of substrates, including bilirubin, steroids, and xenobiotics, facilitating their excretion. The enzyme is a member of the UGT1A family and is encoded by a single gene that undergoes alternative splicing to produce multiple isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UGT1A6 Knockout HEK293 Cell Line | EDJ-KQ51377 | Human | 54578 | Details Get a Quote |
| UGT1A6 Knockout HeLa Cell Line | EDJ-KQ56444 | Human | 54578 | Details Get a Quote |
| UGT1A6 Knockout A-549 Cell Line | EDJ-KQ64938 | Human | 54578 | Details Get a Quote |
| UGT1A6 Knockout HCT 116 Cell Line | EDJ-KQ73380 | Human | 54578 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
