WASF1

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]

Description

WASP family member 1

Tissue specificity

Tissue enhanced (brain, testis)

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

6 (110099819 - 110180004)

Ensembl ID

ENSG00000112290  (ver. 103.38)

Orthologs

Mouse Wasf1: ENSMUSG00000019831

UniProt

Q92558

neXtProt

NX_Q92558

Human splice variants
Mouse splice variants

Protein structure