ADGRV1
Identifiers
Aliases	ADGRV1, FEB4, MASS1, USH2B, USH2C, VLGR1, VLGR1b, GPR98, adhesion G protein-coupled receptor V1
External IDs	OMIM: 602851 MGI: 1274784 HomoloGene: 19815 GeneCards: ADGRV1
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q14.3 Start 90,529,344 bp[1] End 91,164,437 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 C2- C3|13 42.18 cM Start 81,243,187 bp[2] End 81,781,273 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left adrenal gland ganglionic eminence caudate nucleus nucleus accumbens putamen amygdala anterior pituitary cingulate gyrus Brodmann area 9 left lobe of thyroid gland Top expressed in lens spermatid barrel cortex cumulus cell spermatocyte optic nerve saccule retinal pigment epithelium olfactory epithelium ciliary body More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding G protein-coupled receptor activity signal transducer activity protein binding transmembrane signaling receptor activity G-protein alpha-subunit binding adenylate cyclase inhibitor activity hydrolase activity Cellular component cytoplasm integral component of membrane membrane receptor complex plasma membrane synapse stereocilium cell surface extracellular exosome photoreceptor inner segment stereocilia ankle link stereocilia ankle link complex cell projection stereocilium membrane periciliary membrane compartment USH2 complex Biological process G protein-coupled receptor signaling pathway response to stimulus nervous system process sensory perception of light stimulus sensory perception of sound nervous system development cell communication cell surface receptor signaling pathway photoreceptor cell maintenance maintenance of animal organ identity signal transduction visual perception cell-cell adhesion negative regulation of adenylate cyclase activity positive regulation of protein kinase A signaling positive regulation of bone mineralization regulation of protein stability establishment of protein localization inner ear development detection of mechanical stimulus involved in sensory perception of sound inner ear receptor cell stereocilium organization cellular response to calcium ion positive regulation of protein kinase C signaling self proteolysis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84059 110789 Ensembl ENSG00000164199 ENSMUSG00000069170 UniProt Q8WXG9 Q8VHN7 RefSeq (mRNA) NM_032119 NM_054053 RefSeq (protein) NP_115495 NP_473394 Location (UCSC) Chr 5: 90.53 – 91.16 Mb Chr 13: 81.24 – 81.78 Mb PubMed search [3] [4]
Wikidata
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ADGRV1, also known as G protein-coupled receptor 98 (GPR98) or Very Large G-protein coupled receptor 1 (VLGR1), is a protein that in humans is encoded by the GPR98 gene.^[5] Several alternatively spliced transcripts have been described.^[5]

The adhesion GPCR VLGR1 is the largest GPCR known, with a size of 6300 amino acids and consisting of 90 exons.^[6] There are 8 splice variants of VlgR1, named VlgR1a-1e and Mass1.1-1.3. The N-terminus consists of 5800 amino acids containing 35 Calx-beta domains, one pentraxin domain, and one epilepsy associated repeat. Mutations of VlgR1 have been shown to result in Usher's syndrome. Knockouts of Vlgr1 in mice have been shown to phenocopy Usher's syndrome and lead to audiogenic seizures.

Function

This gene encodes a member of the adhesion-GPCR family of receptors.^[7] The protein binds calcium and is expressed in the central nervous system. It is also known as very large G-protein coupled receptor 1 because it is 6300 residues long. It contains a C-terminal 7-transmembrane receptor domain, whereas the large N-terminal segment (5900 residues) includes 35 calcium binding Calx-beta domains, and 6 EAR domains.

Evolution

The sea urchin genome has a homolog of VLGR1 in it.^[8]

Clinical significance

Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures.^[5]