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Description for Protein WAS

Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
50 total interacting proteins; 35 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 5/1)
(phosphoproteome: 1; platelet: 5; undefined: 1)
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] (PubMed Links)
Domains and Motifs:
  • PBD: P21-Rho-binding domain
  • WH1: WASP homology region 1
  • WH2: Wiskott Aldrich syndrome homology region 2
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05747
    KEGG - Pathway(s):
    hsa04062; hsa04520; hsa04666; hsa04810; hsa05100; hsa05130; hsa05131
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    WASP
    Approved Symbol:
    WAS
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; Platelet phosphorylation sites: 3
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • (S)-Wiskostatin(db)

    Associated Genetic Diseases:

  • Neutropenia, severe congenital, X-linked(Pd);
  • Thrombocytopenia, X-linked(Pd);
  • Thrombocytopenia, X-linked, intermittent(Pd);
  • Wiskott-Aldrich syndrome(Pd);
  • Wiskott-Aldrich syndrome, attenuated(Pd);
  • Wiskott-Aldrich syndrome, somatic(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02314 Entrez Gene ID: 7454 OMIM ID: 300392 Swissprot Accession: P42768;