DISEASES

Disease-gene associations mined from literature

Literature associating ARHGEF1 and skin lipoma

ARHGEF1 [ENSP00000337261]

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 . 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 . This GEF activity is inhibited by binding to activated GNA12 . Mediates angiotensin-2-induced RhoA activation . ECO:0000269|PubMed:30521495, ECO:0000269|PubMed:8810315,

Synonyms:  ARHGEF1,  ARHGEF1p,  hARHGEF1,  A0A024R0R1,  M0QXV6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM