Aliases for WASF1 Gene
External Ids for WASF1 Gene
Previous GeneCards Identifiers for WASF1 Gene
The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for WASF1 Gene
WASF1 (WASP Family Member 1) is a Protein Coding gene. Diseases associated with WASF1 include Neurodevelopmental Disorder With Absent Language And Variable Seizures and Alacrima, Achalasia, And Mental Retardation Syndrome. Among its related pathways are Signal transduction_PKA signaling and Phospholipase D signaling pathway. Gene Ontology (GO) annotations related to this gene include actin binding and Rac GTPase binding. An important paralog of this gene is WASF2.
UniProtKB/Swiss-Prot Summary for WASF1 Gene
Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation (PubMed:29961568). The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex (By similarity). As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity). Also involved in the regulation of mitochondrial dynamics (PubMed:29961568).