Adhesion G protein-coupled receptor V1 (ADGRV1)

Adhesion G protein-coupled receptor V1 (ADGRV1) is the largest known member of the adhesion GPCR family, distinguished by its expansive extracellular region with multiple calcium-binding motifs and a 7-transmembrane domain[1][2][3]. Highly expressed in the nervous system, especially the inner ear and retina, ADGRV1 is essential for the organization of cochlear hair cell bundles and photoreceptor structure, thus supporting both hearing and visual functions[1][2][3]. Mutations in ADGRV1 are causal for Usher syndrome type 2C, marked by moderate-to-severe hearing loss and progressive vision deterioration due to retinitis pigmentosa, and are also associated with familial febrile seizures[1][2][3]. ADGRV1 functions via multiple G protein pathways (Gαi, Gαq, Gαs), affects intracellular signaling and myelin stabilization, and serves as a core component of complexes involved in mechanosensory and photoreceptor signaling. It is orphan with respect to known interacting drugs and is not currently considered a direct pharmacological target, but its role in genetic disorders makes it a key focus of neurogenetic and sensory disorder research[1][2][3].

Other names

VLGR1VLGR1bGPR98MASS1FEB4USH2BUSH2CVery large G protein-coupled receptor 1Monogenic audiogenic seizure susceptibility protein 1 homologUsher syndrome type-2C proteinKIAA0686KIAA1943DKFZp761P0710

Modulation of G protein signaling (via coupling with Gαi, Gαq, Gαs subunits); Inhibition of adenylate cyclase and cAMP; Activation of protein kinases A/C in response to extracellular calcium