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 .