ARHGEF1
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]
Full Name
Rho Guanine Nucleotide Exchange Factor 1
Function
Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits (PubMed:9641915, PubMed:9641916).
Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase (PubMed:9641915, PubMed:9641916, PubMed:8810315, PubMed:30521495).
Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain (PubMed:9641916).
This GEF activity is inhibited by binding to activated GNA12 (PubMed:9641916).
Mediates angiotensin-2-induced RhoA activation (PubMed:20098430).
Biological Process
G protein-coupled receptor signaling pathway Source: Reactome
Positive regulation of apoptotic process Source: Reactome
Positive regulation of GTPase activity Source: GOC
Regulation of small GTPase mediated signal transduction Source: Reactome
Rho protein signal transduction Source: ProtInc
Cellular Location
Cytoplasm; Membrane. Translocated to the membrane by activated GNA13 or LPA stimulation.
Involvement in disease
Immunodeficiency 62 (IMD62): An autosomal recessive, primary immunologic disorder characterized by recurrent severe respiratory tract infections and bronchiectasis, due to antibody deficiency. Affected individuals have an abnormal B cell immunophenotype, with low levels of circulating memory B cells.
PTM
Phosphorylated by PKCA. Angiotensin-2 induced Tyr-738 phosphorylation is mediated by JAK2.