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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; OMA:ADGRV1 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) Band 5q14.3 Start 90,529,344 bp End 91,164,437 bp
Gene location (Mouse) Chr. Chromosome 13 (mouse) Band 13 C2- C3|13 42.18 cM Start 81,243,187 bp End 81,781,273 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right adrenal cortex left adrenal gland ventricular zone left adrenal cortex ganglionic eminence caudate nucleus nucleus accumbens putamen Amygdala anterior pituitary Top expressed in neural layer of retina ventricular zone lens spermatid barrel cortex cumulus cell spermatocyte optic nerve embryo saccule 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 hearing 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
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. Several alternatively spliced transcripts have been described.

The adhesion GPCR VLGR1 is the largest GPCR known, with a size of 6300 amino acids and consisting of 90 exons. 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. 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.

Clinical significance

Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000164199 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000069170 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: GPR98 G protein-coupled receptor 98".
6. Sun JP, Li R, Ren HZ, Xu AT, Yu X, Xu ZG (May 2013). "The very large G protein coupled receptor (Vlgr1) in hair cells". Journal of Molecular Neuroscience. 50 (1): 204–214. doi:10.1007/s12031-012-9911-5. PMID 23180093. S2CID 16730555.
7. Stacey M, Yona S (2011). AdhesionGPCRs: Structure to Function (Advances in Experimental Medicine and Biology). Berlin: Springer. ISBN 978-1-4419-7912-4.
8. Whittaker CA, Bergeron KF, Whittle J, Brandhorst BP, Burke RD, Hynes RO (December 2006). "The echinoderm adhesome". Developmental Biology. 300 (1): 252–266. doi:10.1016/j.ydbio.2006.07.044. PMC 3565218. PMID 16950242.

Further reading

• Staub E, Pérez-Tur J, Siebert R, Nobile C, Moschonas NK, Deloukas P, et al. (September 2002). "The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders". Trends in Biochemical Sciences. 27 (9): 441–444. doi:10.1016/S0968-0004(02)02163-1. PMID 12217514.
• Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, et al. (June 1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Research. 5 (3): 169–176. doi:10.1093/dnares/5.3.169. PMID 9734811.
• Nakayama J, Hamano K, Iwasaki N, Nakahara S, Horigome Y, Saitoh H, et al. (January 2000). "Significant evidence for linkage of febrile seizures to chromosome 5q14-q15". Human Molecular Genetics. 9 (1): 87–91. doi:10.1093/hmg/9.1.87. PMID 10587582.
• Pieke-Dahl S, Möller CG, Kelley PM, Astuto LM, Cremers CW, Gorin MB, et al. (April 2000). "Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q". Journal of Medical Genetics. 37 (4): 256–262. doi:10.1136/jmg.37.4.256. PMC 1734554. PMID 10745043.
• Nikkila H, McMillan DR, Nunez BS, Pascoe L, Curnow KM, White PC (September 2000). "Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domain". Molecular Endocrinology. 14 (9): 1351–1364. doi:10.1210/me.14.9.1351. PMID 10976914.
• Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, et al. (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–435. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
• Skradski SL, Clark AM, Jiang H, White HS, Fu YH, Ptácek LJ (August 2001). "A novel gene causing a mendelian audiogenic mouse epilepsy". Neuron. 31 (4): 537–544. doi:10.1016/S0896-6273(01)00397-X. PMID 11545713. S2CID 14468960.
• McMillan DR, Kayes-Wandover KM, Richardson JA, White PC (January 2002). "Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system". The Journal of Biological Chemistry. 277 (1): 785–792. doi:10.1074/jbc.M108929200. PMID 11606593.
• Nagase T, Kikuno R, Ohara O (December 2001). "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins". DNA Research. 8 (6): 319–327. doi:10.1093/dnares/8.6.319. PMID 11853319.
• Nakayama J, Fu YH, Clark AM, Nakahara S, Hamano K, Iwasaki N, et al. (November 2002). "A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures". Annals of Neurology. 52 (5): 654–657. doi:10.1002/ana.10347. PMID 12402266. S2CID 36357793.
• Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, et al. (January 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nature Genetics. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
• Weston MD, Luijendijk MW, Humphrey KD, Möller C, Kimberling WJ (February 2004). "Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II". American Journal of Human Genetics. 74 (2): 357–366. doi:10.1086/381685. PMC 1181933. PMID 14740321.
• Bjarnadóttir TK, Fredriksson R, Höglund PJ, Gloriam DE, Lagerström MC, Schiöth HB (July 2004). "The human and mouse repertoire of the adhesion family of G-protein-coupled receptors". Genomics. 84 (1): 23–33. doi:10.1016/j.ygeno.2003.12.004. PMID 15203201.
• Fu GK, Wang JT, Yang J, Au-Young J, Stuve LL (July 2004). "Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes". Genomics. 84 (1): 205–210. doi:10.1016/j.ygeno.2004.01.011. PMID 15203218.
• Schwartz SB, Aleman TS, Cideciyan AV, Windsor EA, Sumaroka A, Roman AJ, et al. (February 2005). "Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype". Investigative Ophthalmology & Visual Science. 46 (2): 734–743. doi:10.1167/iovs.04-1136. PMID 15671307.
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.

External links

• GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type II

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