Gene
wasa
- ID
- ZDB-GENE-081104-419
- Name
- WASP actin nucleation promoting factor a
- Symbol
- wasa Nomenclature History
- Previous Names
-
- si:dkey-48j7.6
- wasp2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable small GTPase binding activity. Predicted to be involved in regulation of actin filament polymerization. Predicted to act upstream of or within actin filament organization. Predicted to be located in cytoskeleton and nucleus. Predicted to be active in cytoplasm. Is expressed in hematopoietic system; leukocyte; neuromast; and thrombocyte. Human ortholog(s) of this gene implicated in Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia; and thrombocytopenia. Orthologous to human WAS (WASP actin nucleation promoting factor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Cvejic et al., 2008
- 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 |
---|---|---|---|
thrombocytopenia | Alliance | Thrombocytopenia, X-linked | 313900 |
thrombocytopenia | Alliance | Thrombocytopenia, X-linked, intermittent | 313900 |
Wiskott-Aldrich syndrome | Alliance | Wiskott-Aldrich syndrome | 301000 |
X-linked severe congenital neutropenia | Alliance | Neutropenia, severe congenital, X-linked | 300299 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR000095 | CRIB domain |
Domain | IPR000697 | WH1/EVH1 domain |
Domain | IPR003124 | WH2 domain |
Domain | IPR033927 | WASP family, EVH1 domain |
Homologous_superfamily | IPR011026 | Actin nucleation-promoting factor WAS, C-terminal |
Homologous_superfamily | IPR011993 | PH-like domain superfamily |
Homologous_superfamily | IPR036936 | CRIB domain superfamily |
Domain Details Per Protein
Protein | Additional Resources | Length | Actin nucleation-promoting factor WAS, C-terminal | CRIB domain | CRIB domain superfamily | PH-like domain superfamily | WASP family, EVH1 domain | WH1/EVH1 domain | WH2 domain |
---|---|---|---|---|---|---|---|---|---|
UniProtKB:F1Q6U7 | InterPro | 630 |
Interactions and Pathways
No data available
Plasmids
No data available