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{{Short description|Protein-coding gene in the species Homo sapiens}}
{{cs1 config|name-list-style=vanc|display-authors=6}}
{{Infobox_gene}}
{{Infobox_gene}}
'''G protein-coupled receptor 98''', also known as '''GPR98''' or '''VLGR1''', is a [[protein]] that in humans is encoded by the ''GPR98'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: GPR98 G protein-coupled receptor 98| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84059| accessdate = }}</ref> Several alternatively spliced transcripts have been described.<ref name="entrez" />
'''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]].<ref name="entrez">{{cite web | title = Entrez Gene: GPR98 G protein-coupled receptor 98| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84059}}</ref> Several alternatively spliced transcripts have been described.<ref name="entrez" />


The adhesion GPCR Very Large GPCR receptor 1 (Vlg1R1) is the largest GPCR known, with a size of 6300 amino acids and consisting of 90 exons.<ref>{{cite journal | last1 = Sun | first1 = JP | last2 = Li | first2 = R | last3 = Ren | first3 = HZ | last4 = Xu | first4 = AT | last5 = Yu | first5 = X | last6 = Xu | first6 = ZG | date = May 2013 | title = The very large g protein coupled receptor (vlgr1) in hair cells | url = | journal = J Mol Neurosci | volume = 50 | issue = 1| pages = 204–14 | doi = 10.1007/s12031-012-9911-5 }}</ref> 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.
The adhesion GPCR VLGR1 is the largest GPCR known, with a size of 6300 amino acids and consisting of 90 exons.<ref>{{cite journal | vauthors = Sun JP, Li R, Ren HZ, Xu AT, Yu X, Xu ZG | title = The very large G protein coupled receptor (Vlgr1) in hair cells | journal = Journal of Molecular Neuroscience | volume = 50 | issue = 1 | pages = 204–214 | date = May 2013 | pmid = 23180093 | doi = 10.1007/s12031-012-9911-5 | s2cid = 16730555 }}</ref> 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 ==
== Function ==


This gene encodes a member of the [[adhesion-GPCRs|adhesion-GPCR]] family of receptors.<ref name="isbn1-4419-7912-3">{{cite book |vauthors=Stacey M, Yona S | title = AdhesionGPCRs: Structure to Function (Advances in Experimental Medicine and Biology) | publisher = Springer | location = Berlin | year = 2011 | pages = | isbn = 1-4419-7912-3 }}</ref> 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 motif|Calx-beta domains]], and 6 [[EAR domain]]s.
This gene encodes a member of the [[adhesion-GPCRs|adhesion-GPCR]] family of receptors.<ref name="isbn1-4419-7912-3">{{cite book |vauthors=Stacey M, Yona S | title = AdhesionGPCRs: Structure to Function (Advances in Experimental Medicine and Biology) | publisher = Springer | location = Berlin | year = 2011 | isbn = 978-1-4419-7912-4 }}</ref> 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 motif|Calx-beta domains]], and 6 [[EAR domain]]s.


==Evolution==
==Evolution==
The [[Sea Urchin]] genome has a homolog of [[VLGR1]] in it.<ref>{{cite journal | last1 = Whittakera | first1 = Charles A. | last2 = Bergerone | first2 = Karl-Frederik | last3 = Whittlec | first3 = James | last4 = Bruce | first4 = P. | year = 2006 | title = Brandhorste, Robert D. Burked, Richard O. Hynes. The echinoderm adhesome | url = | journal = Developmental Biology | volume = 300 | issue = 1| pages = 252–266 | doi=10.1016/j.ydbio.2006.07.044}}</ref>
The [[sea urchin]] genome has a homolog of VLGR1 in it.<ref>{{cite journal | vauthors = Whittaker CA, Bergeron KF, Whittle J, Brandhorst BP, Burke RD, Hynes RO | title = The echinoderm adhesome | journal = Developmental Biology | volume = 300 | issue = 1 | pages = 252–266 | date = December 2006 | pmid = 16950242 | pmc = 3565218 | doi = 10.1016/j.ydbio.2006.07.044 }}</ref>


== Clinical significance ==
== Clinical significance ==
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Mutations in this gene are associated with [[Usher syndrome]] 2 and familial febrile seizures.<ref name="entrez" />
Mutations in this gene are associated with [[Usher syndrome]] 2 and familial febrile seizures.<ref name="entrez" />


==References==
== References ==
{{reflist}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
*{{cite journal |vauthors=Staub E, Pérez-Tur J, Siebert R, etal |title=The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders. |journal=Trends Biochem. Sci. |volume=27 |issue= 9 |pages= 441–4 |year= 2002 |pmid= 12217514 |doi=10.1016/S0968-0004(02)02163-1 }}
* {{cite journal | vauthors = Staub E, Pérez-Tur J, Siebert R, Nobile C, Moschonas NK, Deloukas P, Hinzmann B | title = The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders | journal = Trends in Biochemical Sciences | volume = 27 | issue = 9 | pages = 441–444 | date = September 2002 | pmid = 12217514 | doi = 10.1016/S0968-0004(02)02163-1 }}
*{{cite journal |vauthors=Ishikawa K, Nagase T, Suyama M, etal |title=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. |journal=DNA Res. |volume=5 |issue= 3 |pages= 169–76 |year= 1998 |pmid= 9734811 |doi=10.1093/dnares/5.3.169 }}
* {{cite journal | vauthors = Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = 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 | journal = DNA Research | volume = 5 | issue = 3 | pages = 169–176 | date = June 1998 | pmid = 9734811 | doi = 10.1093/dnares/5.3.169 | doi-access = free }}
*{{cite journal |vauthors=Nakayama J, Hamano K, Iwasaki N, etal |title=Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. |journal=Hum. Mol. Genet. |volume=9 |issue= 1 |pages= 87–91 |year= 2000 |pmid= 10587582 |doi=10.1093/hmg/9.1.87 }}
* {{cite journal | vauthors = Nakayama J, Hamano K, Iwasaki N, Nakahara S, Horigome Y, Saitoh H, Aoki T, Maki T, Kikuchi M, Migita T, Ohto T, Yokouchi Y, Tanaka R, Hasegawa M, Matsui A, Hamaguchi H, Arinami T | title = Significant evidence for linkage of febrile seizures to chromosome 5q14-q15 | journal = Human Molecular Genetics | volume = 9 | issue = 1 | pages = 87–91 | date = January 2000 | pmid = 10587582 | doi = 10.1093/hmg/9.1.87 | doi-access = free }}
*{{cite journal |vauthors=Pieke-Dahl S, Möller CG, Kelley PM, etal |title=Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q. |journal=J. Med. Genet. |volume=37 |issue= 4 |pages= 256–62 |year= 2000 |pmid= 10745043 |doi=10.1136/jmg.37.4.256 | pmc=1734554 }}
* {{cite journal | vauthors = Pieke-Dahl S, Möller CG, Kelley PM, Astuto LM, Cremers CW, Gorin MB, Kimberling WJ | title = Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q | journal = Journal of Medical Genetics | volume = 37 | issue = 4 | pages = 256–262 | date = April 2000 | pmid = 10745043 | pmc = 1734554 | doi = 10.1136/jmg.37.4.256 }}
*{{cite journal |vauthors=Nikkila H, McMillan DR, Nunez BS, etal |title=Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domain. |journal=Mol. Endocrinol. |volume=14 |issue= 9 |pages= 1351–64 |year= 2001 |pmid= 10976914 |doi=10.1210/me.14.9.1351 }}
* {{cite journal | vauthors = Nikkila H, McMillan DR, Nunez BS, Pascoe L, Curnow KM, White PC | title = Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domain | journal = Molecular Endocrinology | volume = 14 | issue = 9 | pages = 1351–1364 | date = September 2000 | pmid = 10976914 | doi = 10.1210/me.14.9.1351 | doi-access = }}
*{{cite journal |vauthors=Wiemann S, Weil B, Wellenreuther R, etal |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. |journal=Genome Res. |volume=11 |issue= 3 |pages= 422–35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.GR1547R | pmc=311072 }}
* {{cite journal | vauthors = Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A | title = Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs | journal = Genome Research | volume = 11 | issue = 3 | pages = 422–435 | date = March 2001 | pmid = 11230166 | pmc = 311072 | doi = 10.1101/gr.GR1547R }}
*{{cite journal |vauthors=Skradski SL, Clark AM, Jiang H, etal |title=A novel gene causing a mendelian audiogenic mouse epilepsy. |journal=Neuron |volume=31 |issue= 4 |pages= 537–44 |year= 2001 |pmid= 11545713 |doi=10.1016/S0896-6273(01)00397-X }}
* {{cite journal | vauthors = Skradski SL, Clark AM, Jiang H, White HS, Fu YH, Ptácek LJ | title = A novel gene causing a mendelian audiogenic mouse epilepsy | journal = Neuron | volume = 31 | issue = 4 | pages = 537–544 | date = August 2001 | pmid = 11545713 | doi = 10.1016/S0896-6273(01)00397-X | s2cid = 14468960 | doi-access = free }}
*{{cite journal |vauthors=McMillan DR, Kayes-Wandover KM, Richardson JA, White PC |title=Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system. |journal=J. Biol. Chem. |volume=277 |issue= 1 |pages= 785–92 |year= 2002 |pmid= 11606593 |doi= 10.1074/jbc.M108929200 }}
* {{cite journal | vauthors = McMillan DR, Kayes-Wandover KM, Richardson JA, White PC | title = Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system | journal = The Journal of Biological Chemistry | volume = 277 | issue = 1 | pages = 785–792 | date = January 2002 | pmid = 11606593 | doi = 10.1074/jbc.M108929200 | doi-access = free }}
*{{cite journal |vauthors=Nagase T, Kikuno R, Ohara O |title=Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. |journal=DNA Res. |volume=8 |issue= 6 |pages= 319–27 |year= 2002 |pmid= 11853319 |doi=10.1093/dnares/8.6.319 }}
* {{cite journal | vauthors = Nagase T, Kikuno R, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins | journal = DNA Research | volume = 8 | issue = 6 | pages = 319–327 | date = December 2001 | pmid = 11853319 | doi = 10.1093/dnares/8.6.319 | doi-access = }}
*{{cite journal |vauthors=Nakayama J, Fu YH, Clark AM, etal |title=A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. |journal=Ann. Neurol. |volume=52 |issue= 5 |pages= 654–7 |year= 2002 |pmid= 12402266 |doi= 10.1002/ana.10347 }}
* {{cite journal | vauthors = Nakayama J, Fu YH, Clark AM, Nakahara S, Hamano K, Iwasaki N, Matsui A, Arinami T, Ptácek LJ | title = A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures | journal = Annals of Neurology | volume = 52 | issue = 5 | pages = 654–657 | date = November 2002 | pmid = 12402266 | doi = 10.1002/ana.10347 | s2cid = 36357793 }}
* {{cite journal | vauthors = Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S | title = Complete sequencing and characterization of 21,243 full-length human cDNAs | journal = Nature Genetics | volume = 36 | issue = 1 | pages = 40–45 | date = January 2004 | pmid = 14702039 | doi = 10.1038/ng1285 | doi-access = free }}
*{{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal |vauthors=Weston MD, Luijendijk MW, Humphrey KD, etal |title=Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. |journal=Am. J. Hum. Genet. |volume=74 |issue= 2 |pages= 357–66 |year= 2004 |pmid= 14740321 |doi=10.1086/381685 | pmc=1181933 }}
* {{cite journal | vauthors = Weston MD, Luijendijk MW, Humphrey KD, Möller C, Kimberling WJ | title = Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II | journal = American Journal of Human Genetics | volume = 74 | issue = 2 | pages = 357–366 | date = February 2004 | pmid = 14740321 | pmc = 1181933 | doi = 10.1086/381685 }}
*{{cite journal |vauthors=Bjarnadóttir TK, Fredriksson R, Höglund PJ, etal |title=The human and mouse repertoire of the adhesion family of G-protein-coupled receptors. |journal=Genomics |volume=84 |issue= 1 |pages= 23–33 |year= 2005 |pmid= 15203201 |doi= 10.1016/j.ygeno.2003.12.004 }}
* {{cite journal | vauthors = Bjarnadóttir TK, Fredriksson R, Höglund PJ, Gloriam DE, Lagerström MC, Schiöth HB | title = The human and mouse repertoire of the adhesion family of G-protein-coupled receptors | journal = Genomics | volume = 84 | issue = 1 | pages = 23–33 | date = July 2004 | pmid = 15203201 | doi = 10.1016/j.ygeno.2003.12.004 }}
*{{cite journal |vauthors=Fu GK, Wang JT, Yang J, etal |title=Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes. |journal=Genomics |volume=84 |issue= 1 |pages= 205–10 |year= 2005 |pmid= 15203218 |doi= 10.1016/j.ygeno.2004.01.011 }}
* {{cite journal | vauthors = Fu GK, Wang JT, Yang J, Au-Young J, Stuve LL | title = Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes | journal = Genomics | volume = 84 | issue = 1 | pages = 205–210 | date = July 2004 | pmid = 15203218 | doi = 10.1016/j.ygeno.2004.01.011 }}
*{{cite journal |vauthors=Schwartz SB, Aleman TS, Cideciyan AV, etal |title=Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 2 |pages= 734–43 |year= 2005 |pmid= 15671307 |doi= 10.1167/iovs.04-1136 }}
* {{cite journal | vauthors = Schwartz SB, Aleman TS, Cideciyan AV, Windsor EA, Sumaroka A, Roman AJ, Rane T, Smilko EE, Bennett J, Stone EM, Kimberling WJ, Liu XZ, Jacobson SG | title = Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype | journal = Investigative Ophthalmology & Visual Science | volume = 46 | issue = 2 | pages = 734–743 | date = February 2005 | pmid = 15671307 | doi = 10.1167/iovs.04-1136 | doi-access = }}
*{{cite journal |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 }}
* {{cite journal | vauthors = Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S | title = Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes | journal = Genome Research | volume = 16 | issue = 1 | pages = 55–65 | date = January 2006 | pmid = 16344560 | pmc = 1356129 | doi = 10.1101/gr.4039406 }}
{{refend}}
{{refend}}


==External links==
== External links ==
* [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=usher2 GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type II]
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=usher2 GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type II]


{{G protein-coupled receptors}}
{{G protein-coupled receptors}}


[[Category:Receptors]]
[[Category:Receptors]]
[[Category:G protein coupled receptors]]
[[Category:G protein-coupled receptors]]


{{transmembranereceptor-stub}}
{{transmembranereceptor-stub}}

Latest revision as of 12:44, 4 September 2024

ADGRV1
Identifiers
AliasesADGRV1, FEB4, MASS1, USH2B, USH2C, VLGR1, VLGR1b, GPR98, adhesion G protein-coupled receptor V1
External IDsOMIM: 602851; MGI: 1274784; HomoloGene: 19815; GeneCards: ADGRV1; OMA:ADGRV1 - orthologs
Orthologs
SpeciesHumanMouse
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 MbChr 13: 81.24 – 81.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

[edit]

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

[edit]

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

Clinical significance

[edit]

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

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000164199 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b c "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

[edit]
[edit]
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