UGT1A7
UDP Glucuronosyltransferase Family 1 Member A7
Gene Information Card
| Symbol | UGT1A7 |
|---|---|
| Full Name | UDP Glucuronosyltransferase Family 1 Member A7 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 54577 ncbi.nlm.nih.gov/gene/54577 |
| Ensembl ID | ENSG00000241644 |
| UniProt ID | Q9HAW9 |
| OMIM ID | 606432 |
| HGNC ID | 12537 |
| Aliases | UGT1A7, UDPGT, UGT1A7P, UGT1-07, UGT1.7 |
Description
UGT1A7 encodes a UDP-glucuronosyltransferase enzyme that catalyzes the glucuronidation of bilirubin, xenobiotics, and endogenous compounds. It is part of the UGT1A gene complex on chromosome 2. Polymorphisms in UGT1A7 are associated with altered drug metabolism and cancer risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Reduced glucuronidation of carcinogens due to UGT1A7*3 variant increases colorectal cancer risk | PMID: 15122597 |
| Hepatocellular Carcinoma | UGT1A7 low-activity alleles linked to increased risk of hepatocellular carcinoma | PMID: 18470919 |
| Gilbert Syndrome | UGT1A7 variants contribute to mild unconjugated hyperbilirubinemia | PMID: 10677220 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Small Intestine | 8.3 | Medium |
| Colon | 6.1 | Medium |
| Stomach | 4.2 | Low |
| Kidney | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| Caco-2 | 9.5 | 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 |
|---|---|---|---|
| UGT1A7*2 (N129K, R131K) | Missense | ~30% in Caucasians | Reduced enzyme activity |
| UGT1A7*3 (N129K, R131K, W208R) | Missense | ~15% in Caucasians | Significantly reduced activity |
| UGT1A7*4 (W208R) | Missense | <5% | Moderate activity reduction |
Mutation functional classification
Loss of Function (LOF)
UGT1A7*3 variant (W208R) causes marked reduction in glucuronidation activity.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
Not described for UGT1A7.
View complete mutation data：
Gene Ontology (GO)
| • metabolic process (GO:0008152) | • glucuronosyltransferase activity (GO:0015020) |
| • endoplasmic reticulum (GO:0005783) | • xenobiotic metabolic process (GO:0006805) |
| • flavonoid glucuronidation (GO:0052696) |
Pathways
• Bilirubin conjugation and elimination
• Drug metabolism - glucuronidation
• Xenobiotic metabolism
Protein Summary
UGT1A7 is a 529-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the transfer of glucuronic acid from UDP-glucuronic acid to a variety of substrates, including bilirubin, steroids, and drugs. The protein contains a signal peptide, a substrate-binding domain, and a UDP-glucuronic acid-binding domain. Polymorphisms affecting enzyme activity influence drug clearance and cancer susceptibility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UGT1A7 Knockout HEK293 Cell Line | EDJ-KQ51376 | Human | 54577 | Details Get a Quote |
| UGT1A7 Knockout HeLa Cell Line | EDJ-KQ56443 | Human | 54577 | Details Get a Quote |
| UGT1A7 Knockout A-549 Cell Line | EDJ-KQ64937 | Human | 54577 | Details Get a Quote |
| UGT1A7 Knockout HCT 116 Cell Line | EDJ-KQ73379 | Human | 54577 | Details Get a Quote |
