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GPR98

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
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for ADGRV1
Genomic location for ADGRV1
Band5q14.3Start90,529,344 bp[1]
End91,164,437 bp[1]
RNA expression pattern
PBB GE GPR98 gnf1h07403 at fs.png

PBB GE GPR98 gnf1h01727 s at fs.png

PBB GE GPR98 gnf1h07404 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_032119

NM_054053

RefSeq (protein)

NP_115495

NP_473394

Location (UCSC)Chr 5: 90.53 – 91.16 MbChr 13: 81.1 – 81.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

G protein-coupled receptor 98, also known as GPR98 or 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 Very Large GPCR receptor 1 (Vlg1R1) 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]

References

  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". J Mol Neurosci. 50 (1): 204–14. doi:10.1007/s12031-012-9911-5.
  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. ^ 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