ADGRV1
Sign in to saveAlso known as FEB4, MASS1, USH2B, USH2C, VLGR1, VLGR1b, GPR98, adhesion G protein-coupled receptor V1
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.
Gene data
ADGRV1- Name
- adhesion G protein-coupled receptor V1
- Type
- protein-coding
- Aliases
- FEB4, GPR98, MASS1, USH2B, USH2C, VLGR1, VLGR1b
This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008].
via MyGene.info
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 19815
- exact match
- identifiers.org/ncbigene/84059
- genomic end
- 91164437
- genomic start
- 89825161
- cytogenetic location
- 5q14.3
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Article
6 sectionsContents
- Function
- Evolution
- Clinical significance
- References
- Further reading
- External links
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.