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 have hypoxanthine phosphoribosyltransferase activity and magnesium ion binding activity. Predicted to be involved in hypoxanthine metabolic process and purine-containing compound salvage. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in Lesch-Nyhan syndrome. Is expressed in several structures, including digestive system; immature eye; midbrain; musculature system; and pleuroperitoneal region. 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