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{{Infobox_gene}}
{{PBB_Controls
'''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 = https://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" />
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| update_protein_box = yes
| update_summary = no
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
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.
{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = G protein-coupled receptor 98
| HGNCid = 17416
| Symbol = GPR98
| AltSymbols =; USH2B; DKFZp761P0710; FEB4; KIAA0686; MASS1; USH2C; VLGR1; VLGR1b
| OMIM = 602851
| ECnumber =
| Homologene = 19815
| MGIid = 1274784
| GeneAtlas_image1 = PBB_GE_GPR98_gnf1h01727_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_GPR98_gnf1h07403_at_tn.png
| GeneAtlas_image3 = PBB_GE_GPR98_gnf1h07404_at_tn.png
| Function = {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0004930 |text = G-protein coupled receptor activity}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}  
| Process = {{GNF_GO|id=GO:0007154 |text = cell communication}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007218 |text = neuropeptide signaling pathway}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}} {{GNF_GO|id=GO:0016337 |text = cell-cell adhesion}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
  | Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 84059
    | Hs_Ensembl = ENSG00000164199
    | Hs_RefseqProtein = NP_115495
    | Hs_RefseqmRNA = NM_032119
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 5
    | Hs_GenLoc_start = 89946407
    | Hs_GenLoc_end = 90495788
    | Hs_Uniprot = Q8WXG9
    | Mm_EntrezGene = 110789
    | Mm_Ensembl = ENSMUSG00000069170
    | Mm_RefseqmRNA = NM_054053
    | Mm_RefseqProtein = NP_473394
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 13
    | Mm_GenLoc_start = 81558819
    | Mm_GenLoc_end = 82072776
    | Mm_Uniprot = Q8C1E5
  }}
}}
'''G protein-coupled receptor 98''', also known as '''GPR98''', is a human protein and [[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>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{PBB_Summary
 
| section_title =
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.
| summary_text = This gene encodes a member of the [[G-protein coupled receptor]] superfamily. 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 domain]]s, and 6 [[EAR domain]]s. Mutations in this gene are associated with [[Usher syndrome]] 2 and familial febrile seizures. Several alternatively spliced transcripts have been described.<ref name="entrez" />
 
}}
==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 | journal = Developmental Biology | volume = 300 | issue = 1| pages = 252–266 | doi=10.1016/j.ydbio.2006.07.044 | pmid=16950242 | pmc=3565218}}</ref>
 
== Clinical significance ==
 
Mutations in this gene are associated with [[Usher syndrome]] 2 and familial febrile seizures.<ref name="entrez" />


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{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 }}
| citations =
*{{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  | author=Nakajima D, Okazaki N, Yamakawa H, ''et al.'' |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. |journal=DNA Res. |volume=9 |issue= 3 |pages= 99-106 |year= 2003 |pmid= 12168954 |doi=  }}
*{{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 | author=Staub E, Pérez-Tur J, Siebert R, ''et al.'' |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=  }}
*{{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 | author=Ishikawa K, Nagase T, Suyama M, ''et al.'' |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=  }}
*{{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 | author=Nakayama J, Hamano K, Iwasaki N, ''et al.'' |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=  }}
*{{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 | author=Pieke-Dahl S, Möller CG, Kelley PM, ''et al.'' |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=  }}
*{{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 | author=Nikkila H, McMillan DR, Nunez BS, ''et al.'' |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=  }}
*{{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 | author=Wiemann S, Weil B, Wellenreuther R, ''et al.'' |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.154701 }}
*{{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 | author=Skradski SL, Clark AM, Jiang H, ''et al.'' |title=A novel gene causing a mendelian audiogenic mouse epilepsy. |journal=Neuron |volume=31 |issue= 4 |pages= 537-44 |year= 2001 |pmid= 11545713 |doi=  }}
*{{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  | author=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=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  | author=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=  }}
*{{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 | author=Nakayama J, Fu YH, Clark AM, ''et al.'' |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=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 | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{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  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |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=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 | author=Weston MD, Luijendijk MW, Humphrey KD, ''et al.'' |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=  }}
*{{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 | author=Bjarnadóttir TK, Fredriksson R, Höglund PJ, ''et al.'' |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 | author=Fu GK, Wang JT, Yang J, ''et al.'' |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 | author=Schwartz SB, Aleman TS, Cideciyan AV, ''et al.'' |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 | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |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 }}
}}
{{refend}}
{{refend}}


{{membrane-protein-stub}}
==External links==
* [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]]
{{WikiDoc Sources}}
 
 
{{transmembranereceptor-stub}}

Revision as of 09:02, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

G protein-coupled receptor 98, also known as GPR98 or VLGR1, is a protein that in humans is encoded by the GPR98 gene.[1] Several alternatively spliced transcripts have been described.[1]

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.[2] 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.[3] 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.[4]

Clinical significance

Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures.[1]

References

  1. ↑ 1.0 1.1 1.2 "Entrez Gene: GPR98 G protein-coupled receptor 98".
  2. ↑ 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". J Mol Neurosci. 50 (1): 204–14. doi:10.1007/s12031-012-9911-5.
  3. ↑ Stacey M, Yona S (2011). AdhesionGPCRs: Structure to Function (Advances in Experimental Medicine and Biology). Berlin: Springer. ISBN 1-4419-7912-3.
  4. ↑ Whittakera, Charles A.; Bergerone, Karl-Frederik; Whittlec, James; Bruce, P. (2006). "Brandhorste, Robert D. Burked, Richard O. Hynes. The echinoderm adhesome". Developmental Biology. 300 (1): 252–266. doi:10.1016/j.ydbio.2006.07.044. PMC 3565218. PMID 16950242.

Further reading

External links


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