Gene
itpa
- ID
- ZDB-GENE-070705-218
- Name
- inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
- Symbol
- itpa Nomenclature History
- Previous Names
-
- si:ch73-18j6.1
- si:dkey-19f21.1
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to have nucleoside-triphosphate diphosphatase activity. Predicted to be involved in nucleoside triphosphate catabolic process. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in several diseases, including anemia (multiple); early infantile epileptic encephalopathy 35; hepatitis C; rheumatoid arthritis; and thrombocytopenia. Orthologous to human ITPA (inosine triphosphatase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Myllymäki et al., 2021
- 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 |
|---|---|---|---|
| developmental and epileptic encephalopathy 35 | Alliance | Developmental and epileptic encephalopathy 35 | 616647 |
| [Inosine triphosphatase deficiency] | 613850 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Inosine triphosphate pyrophosphatase | Inosine triphosphate pyrophosphatase-like | RdgB/HAM1 |
|---|---|---|---|---|
|
UniProtKB:A5WVX0
|
203 |
Interactions and Pathways
No data available
Plasmids
No data available