ADGRV1

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]

Description

Adhesion G protein-coupled receptor V1

Tissue specificity

Tissue enriched (adrenal gland)

Subcell location

Lipid droplets

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
G-protein coupled receptors
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

5 (90529344 - 91164437)

Ensembl ID

ENSG00000164199  (ver. 103.38)

Orthologs

Mouse Adgrv1: ENSMUSG00000069170

UniProt

Q8WXG9

neXtProt

NX_Q8WXG9

Human splice variants
Mouse splice variants

Protein structure