ADGRV1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ADGRV1 |
| Official Name | adhesion G protein-coupled receptor V1 [Source:HGNC Symbol;Acc:HGNC:17416] |
| Ensembl ID | ENSG00000164199 |
| Bio databases IDs | |
| Aliases | adhesion G protein-coupled receptor V1 |
| Synonyms | adhesion G protein-coupled receptor V1, FEB4, Frings, GPR98, LOC362068, MASS1, Mgr1, RGD1562101, USH2B, USH2C, VLGR1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ADGRV1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G-protein coupled receptor
- 7 transmembrane receptor (Secretin family)
- LamG
- enzyme inhibitor activity
- calcium ion binding
- enzyme regulator activity
- protein binding
- seven-transmembrane G protein-coupled receptor superfamily
- EPTP domain
- Domains in Na-Ca exchangers and integrin-beta4
- myosin binding
- Concanavalin A-like lectin/glucanases superfamily
- cytoplasmic domain
- GPCR proteolysis site, GPS, motif
- cytosolic tail domain
- Calx-beta domain
- PDZ binding motif
Pathways
Biological processes and signaling networks where the ADGRV1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- chronic obstructive pulmonary disease
- cutaneous melanoma
- Usher syndrome
- opioid dependence
- retinal dystrophy
- type IIC Usher syndrome
- idiopathic generalized epilepsy
- atopy
- autosomal recessive sensorineural hearing loss
role in cell
- organization
- mechanotransduction
- degeneration
- function
- response by
- entrance by
- lack
- abnormal morphology
- orientation
- disorganization in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- type I auditory nerve fiber
- cochlear hair cell stereocilia
- Cytoplasm
- cilia
- cell surface
- apical compartment
- basal compartment
- perinuclear region
- cellular membrane
- vesicles
- connecting cilia
- stereocilia
- basolateral membrane
- nerve ending
- filopodial tip
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ADGRV1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- inner ear receptor stereocilium organization
- negative regulation of adenylate cyclase activity
- inner ear receptor cell differentiation
- inner ear development
- G-protein coupled receptor signaling pathway
- positive regulation of protein kinase C signaling cascade
- nervous system development
- cell surface receptor signaling pathway
- visual perception
- establishment of protein localization
- maintenance of organ identity
- sensory perception of sound
- positive regulation of protein kinase A signaling cascade
- self proteolysis
- regulation of protein stability
- cellular response to calcium ion
- photoreceptor cell maintenance
- sensory perception of light stimulus
- detection of mechanical stimulus involved in sensory perception of sound
- neurological system process
- positive regulation of bone mineralization
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- membrane
- stereocilia ankle link
- receptor complex
- stereocilia ankle link complex
- stereocilium
- stereocilium membrane
- photoreceptor inner segment
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- G-protein coupled receptor activity
- protein binding
- G-protein alpha-subunit binding
- calcium ion binding
- adenylate cyclase inhibitor activity
- hydrolase activity