WAS

Wiskott-Aldrich syndrome protein ;
WASp ;

disease:Defects in WAS are a cause of X-linked severe congenital neutropenia (XLN) [MIM:300299]. XLN is an X-linked immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia.,disease:Defects in WAS are the cause of thrombocytopenia type 1 (THC1) [MIM:313900]. Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting.,disease:Defects in WAS are the cause of Wiskott-Aldrich syndrome (WAS) [MIM:301000]; also known as eczema-thrombocytopenia-immunodeficiency syndrome. WAS is an X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10.,domain:The CRIB (Cdc42/Rac-interactive-binding) region binds to the C-terminal WH2 domain in the autoinhibited state of the protein. Binding of Rho-type GTPases to the CRIB induces a conformation change and leads to activation.,domain:The WH1 (Wasp homology 1) domain may bind a Pro-rich ligand.,function:Effector protein for Rho-type GTPases, providing a link with the Arp2/3 complex that regulates the structure and dynamics of the actin cytoskeleton. Important for efficient actin polymerization. Possible regulator of lymphocyte and platelet function.,online information:WAS mutation db,online information:Wiskott-Aldrich syndrome protein entry,similarity:Contains 1 CRIB domain.,similarity:Contains 1 WH1 domain.,similarity:Contains 1 WH2 domain.,subunit:Binds to CDC42, RAC, NCK, FYN, SRC kinase FGR, BTK, ABL, PSTPIP1, WIP, and to the p85 subunit of PLC-gamma. Binds the Arp2/3 complex.,tissue specificity:Expressed predominantly in the thymus. Also found, to a much lesser extent, in the spleen.,

cell activation, protein complex assembly, defense response, immune response, cytoskeleton organization, actin filament organization, ectoderm development, blood coagulation, hemostasis, actin polymerization or depolymerization, epidermis development, response to wounding, vesicle-mediated transport, endosome transport,actin filament-based process, actin cytoskeleton organization, actin filament polymerization, actin filament-based movement, cytoskeleton-dependent intracellular transport, cellular macromolecular complex subunit organization,cellular macromolecular complex assembly, wound healing, T cell activation, cellular protein complex assembly,macromolecular complex subunit organization, leukocyte activation, lymphocyte activation, intracellular transport,coagulation, regulation of body fluid levels, protein polymerization, macromolecular complex assembly, protein complex biogenesis,

Cytoplasm, cytoskeleton . Nucleus .

Expressed predominantly in the thymus. Also found, to a much lesser extent, in the spleen.