ADGRV1 (Adhesion GPCR V1, also known as GPR98 or VLGR1) is one of the largest known G protein-coupled receptors, with a molecular weight of approximately 690 kDa. It belongs to the adhesion GPCR family and is encoded by the ADGRV1 gene (formerly GPR98). This protein plays important roles in cell-cell adhesion, sensory system development, and neuronal function. [1]
ADGRV1 is primarily expressed in the central nervous system, particularly in the cerebellum, retina, and inner ear. Mutations in ADGRV1 are associated with Usher syndrome type IIA (USH2A), a recessive disorder characterized by hearing loss and retinitis pigmentosa. The protein is involved in phototransduction, auditory hair bundle organization, and neuronal migration. [2]
== Structure == [3]
ADGRV1 (GPR98/VLGR1) is one of the largest known GPCRs, with an extracellular N-terminus of over 5000 amino acids containing: [4]
The protein undergoes autoproteolysis at the GPS site, producing a cleaved, non-covalently associated heterodimer. [5]
== Normal Function == [6]
ADGRV1 functions as: [7]
In the retina, ADGRV1 localizes to photoreceptor cell membranes and interacts with USH2A/whirlin complexes. [8]
== Role in Disease == [9]
== Therapeutic Targeting ==
== Key Publications ==
== References ==
Huitema et al. ADGRV1 mutations in Usher syndrome (2012). 2012. ↩︎
Goodyear et al. ADGRV1 in stereocilia formation (2010). 2010. ↩︎
McGee et al. GPR98/VLGR1 cell surface expression in inner ear (2006). 2006. ↩︎
Nikkola et al. GPR98-mediated cell adhesion in neural tissues (2013). 2013. ↩︎
Beurg et al. Mechanotransduction by hair cell stereocilia (2017). 2017. ↩︎
Ebermann et al. GPR98 mutations causing Usher syndrome (2007). 2007. ↩︎
Bayne et al. ADGRV1 mutations in Usher syndrome type 2C (2005). 2005. ↩︎
Michalski et al. ADGRV1 expression in retinal photoreceptors (2017). 2017. ↩︎
Petit et al. Adhesion GPCRs in sensory systems (2021). 2021. ↩︎