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 enable nucleoside triphosphate diphosphatase activity. Predicted to be involved in nucleoside triphosphate catabolic process. Predicted to act upstream of or within nucleotide metabolic process. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in several diseases, including anemia (multiple); developmental and 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