Entrez Summary: This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017].
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. {ECO:0000269|PubMed:8969170}.
Pfam DomainsGO Terms
Pfam Domains
RhoGEF
FYVE
PH
GO Terms
filopodium assembly
small GTPase binding
Rho guanyl-nucleotide exchange factor activity
ruffle
guanyl-nucleotide exchange factor activity
regulation of Rho protein signal transduction
regulation of cell shape
lamellipodium
regulation of Ras protein signal transduction
regulation of small GTPase mediated signal transduction