Gene
pnp4a
- ID
- ZDB-GENE-040625-83
- Name
- purine nucleoside phosphorylase 4a
- Symbol
- pnp4a Nomenclature History
- Previous Names
-
- zgc:86889 (1)
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to have purine-nucleoside phosphorylase activity. Predicted to be involved in nucleoside metabolic process. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in purine nucleoside phosphorylase deficiency and purine-pyrimidine metabolic disorder. Is expressed in several structures, including eye; iridoblast; neural crest; optic vesicle; and presumptive retinal pigmented epithelium. Orthologous to human PNP (purine nucleoside phosphorylase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 20 figures from 12 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6904627 (22 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018099 | Purine phosphorylase, family 2, conserved site |
| Domain | IPR000845 | Nucleoside phosphorylase domain |
| Family | IPR011268 | Purine nucleoside phosphorylase |
| Family | IPR011270 | Purine nucleoside phosphorylase I, inosine/guanosine-specific |
| Homologous_superfamily | IPR035994 | Nucleoside phosphorylase superfamily |
Domain Details Per Protein
| Protein | Length | Nucleoside phosphorylase domain | Nucleoside phosphorylase superfamily | Purine nucleoside phosphorylase | Purine nucleoside phosphorylase I, inosine/guanosine-specific | Purine phosphorylase, family 2, conserved site |
|---|---|---|---|---|---|---|
|
UniProtKB:Q7SZW5
|
291 |
Interactions and Pathways
No data available
Plasmids
No data available