Rho guanine nucleotide exchange factor 1
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Diagnostic Grade (Green)
COVID-19 research
BIALLELIC, autosomal or pseudoautosomalPrimary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomalimmunodeficiency 62
Abnormality of the gastrointestinal tract
response to antibiotic
poisoning
primary familial polycythemia due to EPO receptor mutation
hemolytic anemia due to diphosphoglycerate mutase deficiency
autosomal dominant severe congenital neutropenia
Neurodevelopmental delay
autosomal dominant secondary polycythemia
immunodeficiency 128
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Rho guanine nucleotide exchange factor 1
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 a GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase (PubMed:30521495, PubMed:8810315, PubMed:9641915, PubMed:9641916). 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). In lymphoid follicles, may trigger activation of GNA13 as part of S1PR2-dependent signaling pathway that leads to inhibition of germinal center (GC) B cell growth and migration outside the GC niche
ARHGEF1 · Q92888
Mean pLDDT
73.2/ 100
Confident
912 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
