Gene
hprt1
- ID
- ZDB-GENE-040426-1918
- Name
- hypoxanthine phosphoribosyltransferase 1
- Symbol
- hprt1 Nomenclature History
- Previous Names
-
- id:ibd1344
- id:ibd5108
- wu:fc10g09
- zgc:56221 (1)
- zgc:86608
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable hypoxanthine phosphoribosyltransferase activity and magnesium ion binding activity. Predicted to be involved in hypoxanthine metabolic process and purine-containing compound salvage. Predicted to act upstream of or within purine ribonucleoside salvage. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Is expressed in several structures, including digestive system; immature eye; midbrain; musculature system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in HRPT-related hyperuricemia and Lesch-Nyhan syndrome. Orthologous to human HPRT1 (hypoxanthine phosphoribosyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| HRPT-related hyperuricemia | Alliance | Hyperuricemia, HRPT-related | 300323 |
| Lesch-Nyhan syndrome | Alliance | Lesch-Nyhan syndrome | 300322 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Hypoxanthine-guanine phosphoribosyltransferase | Hypoxanthine phosphoribosyl transferase | Phosphoribosyltransferase domain | Phosphoribosyltransferase-like |
|---|---|---|---|---|---|
|
UniProtKB:Q7ZV49
|
218 |
Interactions and Pathways
No data available
Plasmids
No data available