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FLASH GENE

Symbol

ADGRV1

contributors: mct - updated : 01-09-2016

HGNC name	adhesion G protein-coupled receptor V1
HGNC id	17416

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FEB4 febrile convulsions, familial, 4 USH2C Usher syndrome type IIC
Location	5q14.3      Physical location : -
Synonym name	very large G protein-coupled receptor 1
	monogenic, audiogenic seizure susceptibility 1 homolog (mouse)
	G protein-coupled receptor 98
Synonym symbol(s)	KIAA0686, CIRL, CL1, VLGR1, LTXR1, MASS1, GPR98, FEB4, USH2B, USH2C, VLGR1b

DNA

TYPE	functioning gene
STRUCTURE	605.40 kb     90 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed VLGR1A 90 splicing 6500 217.2 1967 - 2010 2005885 an N terminal signal peptide seven putative Na+/Ca2+ exchanges 21 N-inked glycosylation sites a C terminal domain with a palmitoylation site multiple potential serine phosphorylation sites VLGR1C - splicing - - 2296 - 2010 2005885 a signal peptide 15 CALX-beta domains the PTX domain more abundant than VLGR1B in fetal testis expression almost exclusively NM_032119 90 - 19333 NP_115495 692.7 6306 localized in the ridges of the periciliary complex and in the connecting cilium of photoreceptor cells 2010 2005885 VLGR1b a putative signal peptide 90 predicted N-linked glycosylation sites 35 calcium exchanger (CALX)-beta repeats a potential pentraxin domain in its extracellular portion the TM domain is related to rat latrophilin more abundant than VLGR1A

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon     Hearing/Equilibrium ear inner       Homo sapiens Nervous brain       moderately Reproductive female system ovary     lowly   male system testis     lowly Respiratory lung       lowly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium hair cell receptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	highly in brain, spinal cord, retina and cochlea

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a large extracellular N terminus with 35 calcium-binding domains
	a 29 amino acids long signal peptide
	a large extracellular polypeptide homologous to the secretor receptor family and a novel structural motif common to the large orphan G protein-coupled receptors
	GPS domain
	multiple CALX repeats
	EAR repeats (epilepsy associated repeats
	LTP homology domain
	C-terminal residues corresponding to a cosensus motif recognized as a ligand for the class 1 subfamily of PDZ domain

secondary structure

both alpha-helix and beta sheets

HOMOLOGY

interspecies

ortholog to murine Mass1

Homologene

FAMILY	secretin family of G protein coupled receptors
	GPCR family 2 having Concanavalin A-like lectin/glucanase superfamily

CATEGORY

receptor membrane G

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microfilament
text	USH2A, MASS1 and SLC4A7 are co-expressed with the USH1-protein harmonin in the synaptic terminals of both retinal photoreceptors and inner ear hair cells

basic FUNCTION	synaptic calcium independent alpha-latrotoxin receptor (CIRL), playing a role in in the development of the central nervous system
	importance of ADGRV1 in the regulation of bone metabolism
	core component of ankle-link complex in inner ear hair cells
	crucial roles in hearing transduction or auditory system development
	enriched in the myelinated regions of the superior and inferior colliculi, critical areas for the initiation and propagation of audiogenic seizures
	is a core component in inner ear hair cell development
	both ADGRV1, significantly associated with atopy, and DNAH5 contribute to ciliary function, suggesting that ciliary dysfunction might represent a novel mechanism underlying atopy

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	calcium Ca2+

protein	interactions between GPR98, DFNB31, USH2A, VEZT further support their involvement in a molecular complex associated with the ankle links and scaffolded by whirlin (Michalski 2007)
	interaction of ADGRV1 and SNAP25 in organ of Corti and brain
	inhibits the ubiquitylation of MAG, thus enhancing the stability of this protein, and the calcium-binding domains of ADGRV1 are essential for this regulation
	overexpression of PDZD7, decreased the adenylate cyclase (AC) inhibition of the ADGRV1 beta-subunit but showed no effect on the ADGRV1 Y6236fsx1 mutant
	USH2A, ADGRV1, WHRN and PDZD7, interact to assemble a multiprotein complex at the ankle link region of the mechanosensitive stereociliary bundle in hair cells

cell & other

REGULATION

inhibited by

neomycin and gadolinium for calcium binding

ASSOCIATED DISORDERS

corresponding disease(s)

USH2C , FEB4

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	BUB/BnJ mice , model for USH1C
	disappearance of the CDH23 isoforms in the Vlgr1-/- mutant argues in favor of a signaling function of the ankle links in hair bundle differentiation (Michalski 2007)