Entrez Summary: This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015].
UniProt Summary: Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. Activates MAPK8 (By similarity). {ECO:0000250, ECO:0000269|PubMed:15133042}.
Pfam DomainsGO Terms
Pfam Domains
RhoGEF
PH
FYVE
GO Terms
filopodium assembly
small GTPase binding
Rho guanyl-nucleotide exchange factor activity
filopodium
ruffle
guanyl-nucleotide exchange factor activity
regulation of Rho protein signal transduction
regulation of cell shape
lamellipodium
regulation of Ras protein signal transduction
actin binding
regulation of small GTPase mediated signal transduction