GenTIGS

Adhesion G protein-coupled receptor V1 (ADGRV1) Associated conditions: 1. Usher syndrome 2. Retinitis pigmentosa

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_032119.4	NP_115495.3	NC_000005.10	(90558796..91164436)	Reference GRCh38.p14 Primary Assembly	Q8WXG9
2	REVIEWED	NR_003149.2	-	NC_000005.10	(90558796..91164436)	Reference GRCh38.p14 Primary Assembly	Q8WXG9

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 172 reference articles

Variant Information Adhesion G protein-coupled receptor V1 (ADGRV1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Adhesion G protein-coupled receptor V1 (ADGRV1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Adhesion G protein-coupled receptor V1 (ADGRV1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	located_in	photoreceptor inner segment	Component	-
2	Homo sapiens	IBA	enables	G-protein alpha-subunit binding	Function	21873635
3	Homo sapiens	ISS	enables	G-protein alpha-subunit binding	Function	-
4	Homo sapiens	ISS	located_in	stereocilia ankle link	Component	-
5	Homo sapiens	ISS	part_of	stereocilia ankle link complex	Component	-
6	Homo sapiens	IBA	enables	G protein-coupled receptor activity	Function	21873635
7	Homo sapiens	ISS	enables	G protein-coupled receptor activity	Function	-
8	Homo sapiens	NAS	enables	G protein-coupled receptor activity	Function	11606593
9	Homo sapiens	IDA	enables	calcium ion binding	Function	10976914
10	Homo sapiens	IPI	enables	protein binding	Function	16434480 20440071
11	Homo sapiens	IBA	is_active_in	cytoplasm	Component	21873635
12	Homo sapiens	IDA	located_in	cytoplasm	Component	16434480
13	Homo sapiens	ISS	located_in	plasma membrane	Component	-
14	Homo sapiens	IEA	involved_in	cell surface receptor signaling pathway	Process	-
15	Homo sapiens	IEA	involved_in	G protein-coupled receptor signaling pathway	Process	-
16	Homo sapiens	IBA	involved_in	negative regulation of adenylate cyclase activity	Process	21873635
17	Homo sapiens	ISS	involved_in	negative regulation of adenylate cyclase activity	Process	-
18	Homo sapiens	NAS	involved_in	nervous system development	Process	11606593
19	Homo sapiens	IBA	involved_in	visual perception	Process	21873635
20	Homo sapiens	ISS	acts_upstream_of_or_within	visual perception	Process	-
21	Homo sapiens	IBA	involved_in	sensory perception of sound	Process	21873635
22	Homo sapiens	IMP	involved_in	sensory perception of sound	Process	14740321
23	Homo sapiens	IDA	located_in	cell surface	Component	10976914
24	Homo sapiens	ISS	acts_upstream_of_or_within	positive regulation of protein kinase A signaling	Process	-
25	Homo sapiens	IBA	enables	adenylate cyclase inhibitor activity	Function	21873635
26	Homo sapiens	ISS	enables	adenylate cyclase inhibitor activity	Function	-
27	Homo sapiens	NAS	located_in	membrane	Component	11606593
28	Homo sapiens	IEA	enables	hydrolase activity	Function	-
29	Homo sapiens	ISS	involved_in	positive regulation of bone mineralization	Process	-
30	Homo sapiens	ISS	involved_in	regulation of protein stability	Process	-
31	Homo sapiens	IBA	is_active_in	stereocilium	Component	21873635
32	Homo sapiens	IDA	part_of	receptor complex	Component	23382219
33	Homo sapiens	ISS	acts_upstream_of_or_within	establishment of protein localization	Process	-
34	Homo sapiens	IMP	involved_in	photoreceptor cell maintenance	Process	14740321
35	Homo sapiens	IMP	involved_in	maintenance of animal organ identity	Process	15671307
36	Homo sapiens	ISS	acts_upstream_of_or_within	inner ear development	Process	-
37	Homo sapiens	IMP	involved_in	nervous system process	Process	12402266
38	Homo sapiens	ISS	acts_upstream_of_or_within	detection of mechanical stimulus involved in sensory perception of sound	Process	-
39	Homo sapiens	IMP	involved_in	sensory perception of light stimulus	Process	14740321 15671307
40	Homo sapiens	NAS	involved_in	inner ear receptor cell differentiation	Process	25406310
41	Homo sapiens	ISS	acts_upstream_of_or_within	inner ear receptor cell stereocilium organization	Process	-
42	Homo sapiens	IEA	located_in	stereocilium membrane	Component	-
43	Homo sapiens	HDA	located_in	extracellular exosome	Component	19056867
44	Homo sapiens	IBA	involved_in	cellular response to calcium ion	Process	21873635
45	Homo sapiens	ISS	acts_upstream_of_or_within	cellular response to calcium ion	Process	-
46	Homo sapiens	ISS	involved_in	positive regulation of protein kinase C signaling	Process	-
47	Homo sapiens	ISS	involved_in	self proteolysis	Process	-
48	Homo sapiens	NAS	involved_in	cell-cell adhesion	Process	11606593
49	Homo sapiens	ISS	located_in	periciliary membrane compartment	Component	-
50	Homo sapiens	ISS	part_of	USH2 complex	Component	-