Gene Symbol |
WAS
|
Entrez Gene |
7454
|
Alt Symbol |
IMD2, SCNX, THC, THC1, WASP, WASPA
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
Wiskott-Aldrich syndrome
|
Other Description |
eczema-thrombocytopenia|thrombocytopenia 1 (X-linked)|wiskott-Aldrich syndrome protein
|
Swissprots |
Q9UNJ9 Q9BU11 P42768
|
Accessions |
AAA60381 AAD26691 CAJ30264 EAW50758 EAW50759 P42768 BC002961 AAH02961 BC012738 AAH12738 BI910072 CF529565 EU176449 ABW03900 U12707 AAA62663 U19927 AAC50140 XM_011543977 XP_011542279 NM_000377 NP_000368
|
Function |
Effector protein for Rho-type GTPases. Regulates actin filament reorganization via its interaction with the Arp2/3 complex. Important for efficient actin polymerization. Possible regulator of lymphocyte and platelet function. Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria. {ECO:0000269|PubMed:12235133, ECO:0000269|PubMed:16275905, ECO:0000269|PubMed:18650809}.
|
Subcellular Location |
Cytoplasm, cytoskeleton.
|
Tissue Specificity |
Expressed predominantly in the thymus. Also found, to a much lesser extent, in the spleen. {ECO:0000269|PubMed:8069912}.
|
Top Pathways |
Fc gamma R-mediated phagocytosis, Choline metabolism in cancer, Salmonella infection, Bacterial invasion of epithelial cells, Chemokine signaling pathway
|