UPRT (Uracil Phosphoribosyltransferase)
Gene encoding uracil phosphoribosyltransferase, involved in pyrimidine salvage and nucleotide metabolism.
Gene Information Card
| Symbol | UPRT |
|---|---|
| Full Name | Uracil Phosphoribosyltransferase Homolog (S. cerevisiae) |
| Gene Type | Protein coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 139596 ncbi.nlm.nih.gov/gene/139596 |
| Ensembl ID | ENSG00000184990 |
| UniProt ID | Q96BW1 |
| OMIM ID | 300903 |
| HGNC ID | 12635 |
| Aliases | UPRT1, FUR1 |
Description
The UPRT gene encodes uracil phosphoribosyltransferase, an enzyme that catalyzes the conversion of uracil and 5-phosphoribosyl-1-pyrophosphate (PRPP) to uridine monophosphate (UMP) and pyrophosphate. This reaction is part of the pyrimidine salvage pathway, recycling uracil for nucleotide synthesis. UPRT is also involved in the activation of the prodrug 5-fluorouracil (5-FU) to its cytotoxic metabolites.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | UPRT expression influences 5-FU sensitivity; low expression associated with resistance | PMID: 19164563 (NCBI) |
| Breast Cancer | UPRT overexpression correlates with poor prognosis and 5-FU metabolism | PMID: 22952190 (NCBI) |
| Orotic Aciduria (mild) | Deficiency in UPRT may contribute to pyrimidine imbalance | OMIM #300903 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Low |
| Kidney | 8.7 | Low |
| Colon | 6.5 | Low |
| Breast | 4.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.1 | Hepatocellular carcinoma |
| MCF7 | 3.8 | Breast cancer |
| HT-29 | 7.2 | Colorectal adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% (gnomAD) | Loss of start codon, likely loss of function |
| c.337C>T (p.Arg113Trp) | Missense | 0.02% (gnomAD) | Reduced enzyme activity in vitro |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg113Trp) reduce catalytic activity, impairing uracil salvage.
Gain of Function (GOF)
No gain-of-function mutations reported in UPRT.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • uracil phosphoribosyltransferase activity (GO:0004845) | • UMP biosynthetic process (GO:0006222) |
| • cytoplasm (GO:0005737) |
Pathways
• Pyrimidine salvage pathway (Reactome: R-HSA-73621)
• 5-Fluorouracil metabolism (KEGG: map00240)
Protein Summary
Uracil phosphoribosyltransferase (UniProt Q96BW1) is a 264-amino acid cytoplasmic enzyme that catalyzes the reversible conversion of uracil and PRPP to UMP. It plays a key role in pyrimidine salvage and is a target for prodrug activation in cancer therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UPRT Knockout HEK293 Cell Line | EDJ-KQ9585 | Human | 139596 | Details Get a Quote |
| UPRT Knockout HCT 116 Cell Line | EDJ-KQ35148 | Human | 139596 | Details Get a Quote |
| UPRT Knockout A-549 Cell Line | EDJ-KQ36412 | Human | 139596 | Details Get a Quote |
| UPRT Knockout HeLa Cell Line | EDJ-KQ36414 | Human | 139596 | Details Get a Quote |
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