ARHGEF1 ist ein Gen, das durch das Symbol ARHGEF1 kodiert wird. Andere Namen sind: Rho guanine nucleotide exchange factor 1; 115 kDa guanine nucleotide exchange factor; p115-RhoGEF; Sub1.5. ARHGEF1 hat eine Masse von 102.44kDa, eine Aminosäurelänge von 912, und ist an Immunodeficiency 62 beteiligt.
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Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
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.
Gewebespezifität
Ubiquitously expressed.
Rolle bei Krankheiten
Immunodeficiency 62: 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.
Posttranslationale Modifikation
Phosphorylated by PKCA. Angiotensin-2 induced Tyr-738 phosphorylation is mediated by JAK2.
Zellort
Cytoplasm. Membrane.
Translocated to the membrane by activated GNA13 or LPA stimulation.
