WAS human: Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
Aliases: thrombocytopenia 1 (X-linked), Wiskott-Aldrich syndrome protein, THC, WAS, THC1, IMD2, WASP
Pfam Domain Structure
From WAS (human) - phosphorylation sites added via direct mapping
Protein Overview
| Official Gene Name | WAS (H. sapiens) |
| RefSeq Protein Name | Wiskott-Aldrich syndrome (eczema-thrombocytopenia) |
| UniProt Gene Symbol | WASP_HUMAN |
| UniProt Name | Wiskott-Aldrich syndrome protein |
| Entrez Gene Summary | The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq] |
References
- Notarangelo LD, Miao CH, Ochs HD. Wiskott-Aldrich syndrome. Curr. Opin. Hematol. 2008; 15:30-6 (PubMed)
- Notarangelo LD, Ochs HD. Wiskott-Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation. Curr. Opin. Immunol. 2003; 15:585-91 (PubMed)
- Ochs HD, Notarangelo LD. Structure and function of the Wiskott-Aldrich syndrome protein. Curr. Opin. Hematol. 2005; 12:284-91 (PubMed)
- Thrasher AJ. WASp in immune-system organization and function. Nat. Rev. Immunol. 2002; 2:635-46 (PubMed)
- Thrasher AJ, Burns SO. WASP: a key immunological multitasker. Nat. Rev. Immunol. 2010; 10:182-92 (PubMed)
Consortium Results & Data
Results & Data
| Ortholog | Species | Type | Description | Method | Status | Source | Publications |
|---|---|---|---|---|---|---|---|
| WAS | none | phosphorylation site | Wasp | Ectopic expression in HEK cells | 8 phospho-sites in 85.8% coverage of 515 aa | Parsons |
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| WAS | none | structure | WASP and Scar - Drosophila actin nucleation | Correlative light microscopy-electron microscopy | completed | Borisy | Biyasheva et al. |
| WAS | none | structure | Rickettsia - structure of tail mediated by WASP-like protein | Correlative light microscopy-electron microscopy | completed | Borisy | Jeng et al. |