UGT3A1 Gene - UDP Glycosyltransferase 3 Family Member A1
Comprehensive genomic and functional analysis of UGT3A1, a member of the UDP-glycosyltransferase family involved in glycosylation of small lipophilic molecules.
Gene Information Card
| Symbol | UGT3A1 |
|---|---|
| Full Name | UDP glycosyltransferase 3 family member A1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5p13.2 |
| NCBI Gene ID | 133688 ncbi.nlm.nih.gov/gene/133688 |
| Ensembl ID | ENSG00000145675 |
| UniProt ID | Q6UWM9 |
| OMIM ID | 616392 |
| HGNC ID | 26963 |
| Aliases | UDPGT3A1, UGT3A1 |
Description
UGT3A1 encodes a member of the UDP-glycosyltransferase 3 family. This enzyme catalyzes the transfer of glucuronic acid from UDP-glucuronic acid to a variety of small lipophilic substrates, including steroids, bile acids, and xenobiotics, facilitating their elimination. UGT3A1 is expressed in multiple tissues and plays a role in phase II metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperbilirubinemia, familial | Deficient glucuronidation of bilirubin | OMIM #616392 |
| Drug-induced liver injury | Altered metabolism of xenobiotics | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Low |
| Colon | 4.7 | Low |
| Adrenal gland | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| Caco-2 | 7.8 | Colorectal adenocarcinoma cell line |
| HEK293 | 2.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Reduced enzyme activity |
| c.100C>T | nonsense | <0.01% | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
c.100C>T nonsense variant leads to truncated protein and loss of glucuronidation activity.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • glucuronosyltransferase activity (GO:0015020) | • metabolic process (GO:0008152) |
| • endoplasmic reticulum (GO:0005783) |
Pathways
• Phase II conjugation - glucuronidation (Reactome R-HSA-156588)
Protein Summary
UGT3A1 is a 523-amino acid transmembrane protein localized to the endoplasmic reticulum. It functions as a UDP-glucuronosyltransferase, conjugating glucuronic acid to substrates such as steroids and xenobiotics, thereby increasing their water solubility for excretion. The protein contains a conserved UDP-glucuronosyltransferase domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UGT3A1 Knockout HEK293 Cell Line | EDJ-KQ9322 | Human | 133688 | Details Get a Quote |
| UGT3A1 Knockout HeLa Cell Line | EDJ-KQ35949 | Human | 133688 | Details Get a Quote |
| UGT3A1 Knockout A-549 Cell Line | EDJ-KQ66819 | Human | 133688 | Details Get a Quote |
| UGT3A1 Knockout HCT 116 Cell Line | EDJ-KQ75222 | Human | 133688 | Details Get a Quote |
