P42768.4
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UniProt Primary Accession #
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UniProt Secondary Accession #
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NCBI Official Full Name
Wiskott-Aldrich syndrome protein
NCBI Official Synonym Full Names
Wiskott-Aldrich syndrome
NCBI Protein Information
wiskott-Aldrich syndrome protein; eczema-thrombocytopenia; thrombocytopenia 1 (X-linked)
UniProt Protein Name
Wiskott-Aldrich syndrome protein
UniProt Synonym Gene Names
UniProt Entry Name
WASP_HUMAN
NCBI Summary for WAS
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, Jul 2008]
UniProt Comments for WAS
WASP: a member of the Wiskott-Aldrich syndrome (WAS) family of proteins. A cytoplasmic protein expressed exclusively in hematopoietic cells. Transduces signals from surface receptors to the actin cytoskeleton. Associates with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Mutated in Wiskott-Aldrich syndrome, a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia.
Protein type: Motility/polarity/chemotaxis; Adaptor/scaffold
Chromosomal Location of Human Ortholog: Xp11.4-p11.21
Cellular Component: intercellular junction; vesicle membrane; cytosol; actin cytoskeleton
Molecular Function: identical protein binding; protein binding; phospholipase binding; actin binding; SH3 domain binding; protein kinase binding
Biological Process: epidermis development; T cell activation; actin filament polymerization; regulation of catalytic activity; actin filament-based movement; actin polymerization and/or depolymerization; innate immune response; defense response; protein complex assembly; immune response; endosome transport; blood coagulation; T cell receptor signaling pathway
Disease: Thrombocytopenia 1; Neutropenia, Severe Congenital, X-linked
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Pathways associated with anti-WAS antibody
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