Entrez Summary: The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of heterotrimeric guanine nucleotide-binding protein. Defects in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia. [provided by RefSeq, May 2017].
UniProt Summary: May be a transforming oncogene with exchange activity for CDC42 (By similarity). May be a guanine-nucleotide exchange factor (GEF) for RAC1 and CDC42. Activated by the binding to subunits beta and gamma of the heterotrimeric guanine nucleotide- binding protein (G protein) (PubMed:18045877). Involved in the regulation of actin polymerization (PubMed:26573021). {ECO:0000250|UniProtKB:Q6KAU7, ECO:0000269|PubMed:18045877, ECO:0000269|PubMed:26573021}.
Pfam DomainsGO Terms
Pfam Domains
RhoGEF
GO Terms
Rho guanyl-nucleotide exchange factor activity
regulation of Rho protein signal transduction
regulation of actin filament polymerization
regulation of actin polymerization or depolymerization
regulation of actin filament length
regulation of protein polymerization
regulation of Ras protein signal transduction
regulation of actin filament organization
regulation of actin cytoskeleton organization
regulation of small GTPase mediated signal transduction
regulation of supramolecular fiber organization
regulation of cellular component size
regulation of actin filament-based process
regulation of protein complex assembly
regulation of anatomical structure size
regulation of cytoskeleton organization
positive regulation of apoptotic process
positive regulation of programmed cell death
positive regulation of cell death
regulation of cellular component biogenesis
regulation of organelle organization
G protein-coupled receptor signaling pathway
regulation of apoptotic process
regulation of programmed cell death
regulation of cell death
regulation of intracellular signal transduction
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)