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ADGRV1 adhesion G protein-coupled receptor V1 [ Homo sapiens (human) ]

Gene ID: 84059, updated on 5-Mar-2024

Summary

Official Symbol
ADGRV1provided by HGNC
Official Full Name
adhesion G protein-coupled receptor V1provided by HGNC
Primary source
HGNC:HGNC:17416
See related
Ensembl:ENSG00000164199 MIM:602851; AllianceGenome:HGNC:17416
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FEB4; GPR98; MASS1; USH2B; USH2C; VLGR1; VLGR1b
Summary
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]
Expression
Biased expression in adrenal (RPKM 8.5), brain (RPKM 6.0) and 6 other tissues See more
Orthologs
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Genomic context

See ADGRV1 in Genome Data Viewer
Location:
5q14.3
Exon count:
91
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (90558797..91164437)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (91045409..91650939)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (89854614..90460254)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22779 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:89820083-89820584 Neighboring gene metallo-beta-lactamase domain containing 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:89824672-89825172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22780 Neighboring gene RNA polymerase III subunit G Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:89838485-89839226 Neighboring gene NANOG hESC enhancer GRCh37_chr5:89850082-89850882 Neighboring gene NANOG hESC enhancer GRCh37_chr5:89853234-89853735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16170 Neighboring gene LysM domain containing 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:89900954-89901152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22781 Neighboring gene NANOG hESC enhancer GRCh37_chr5:89940736-89941239 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:89963673-89964204 Neighboring gene NANOG hESC enhancer GRCh37_chr5:89968220-89968777 Neighboring gene uncharacterized LOC105379077 Neighboring gene NANOG hESC enhancer GRCh37_chr5:90033573-90034074 Neighboring gene MPRA-validated peak5350 silencer Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:90190300 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:90212892 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:90225253-90225805 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:90264394 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:90266068 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:90269376 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:90272756 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:90277675 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:90277863 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:90276298 Neighboring gene Sharpr-MPRA regulatory region 3426 Neighboring gene LYSET pseudogene 1 Neighboring gene uncharacterized LOC107986432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22784 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:90496731-90496943 Neighboring gene uncharacterized LOC107986433 Neighboring gene RNA, U4 small nuclear 90, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Febrile seizures, familial, 4
MedGen: C1858493 OMIM: 604352 GeneReviews: Not available
Compare labs
Usher syndrome type 2C
MedGen: C2931213 OMIM: 605472 GeneReviews: Usher Syndrome Type II
Compare labs

EBI GWAS Catalog

Description
Genome-wide association with bone mass and geometry in the Framingham Heart Study.
EBI GWAS Catalog
Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA0686, DKFZp761P0710

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables G protein-coupled receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables G protein-coupled receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
enables G-protein alpha-subunit binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables G-protein alpha-subunit binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables adenylate cyclase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables adenylate cyclase inhibitor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in cell surface receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in cell-cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cellular response to calcium ion IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within cellular response to calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within detection of mechanical stimulus involved in sensory perception of sound ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within establishment of protein localization ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within inner ear development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in inner ear receptor cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within inner ear receptor cell stereocilium organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in maintenance of animal organ identity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of adenylate cyclase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of adenylate cyclase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in nervous system development NAS
Non-traceable Author Statement
more info
PubMed 
involved_in nervous system process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in photoreceptor cell maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of bone mineralization ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within positive regulation of protein kinase A signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein kinase C signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of protein stability ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in self proteolysis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sensory perception of light stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sensory perception of sound IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in visual perception IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within visual perception ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
part_of USH2 complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in periciliary membrane compartment ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in stereocilia ankle link ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of stereocilia ankle link complex ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in stereocilium IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in stereocilium membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
adhesion G-protein coupled receptor V1
Names
G-protein coupled receptor 98
monogenic audiogenic seizure susceptibility protein 1 homolog
usher syndrome type-2C protein
very large G-protein coupled receptor 1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007083.2 RefSeqGene

    Range
    34454..640094
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1095

mRNA and Protein(s)

  1. NM_032119.4NP_115495.3  adhesion G-protein coupled receptor V1 precursor

    See identical proteins and their annotated locations for NP_115495.3

    Status: REVIEWED

    Source sequence(s)
    AC027323, AC034215, AC074132, AC093281, AC093529, AC094109, AC099512
    Consensus CDS
    CCDS47246.1
    UniProtKB/Swiss-Prot
    O75171, Q8TF58, Q8WXG9, Q9H0X5, Q9UL61
    Related
    ENSP00000384582.2, ENST00000405460.9
    Conserved Domains (5) summary
    pfam03736
    Location:33953438
    EPTP; EPTP domain
    pfam13385
    Location:13451495
    Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
    cl02522
    Location:42674354
    Calx-beta; Calx-beta domain
    cl02559
    Location:58535895
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:59156148
    7tm_4; Olfactory receptor

RNA

  1. NR_003149.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as VLGR1c, uses an alternate splice site in the 5' coding region, compared to variant 1. A CDS is not annotated because the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
    Source sequence(s)
    AC027323, AC034215, AC074132, AC093281, AC093529, AC094109, AC099512

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    90558797..91164437
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009963.3XP_016865452.1  adhesion G-protein coupled receptor V1 isoform X1

    Conserved Domains (7) summary
    TIGR00845
    Location:42914495
    caca; sodium/calcium exchanger 1
    cd14964
    Location:59455967
    7tm_GPCRs; TM helix 2 [structural motif]
    pfam03736
    Location:34033444
    EPTP; EPTP domain
    pfam13385
    Location:13451495
    Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
    cl02522
    Location:40394129
    Calx-beta; Calx-beta domain
    cl02559
    Location:58605902
    GPS; GPCR proteolysis site, GPS, motif
    cl28897
    Location:59266165
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  2. XM_017009969.3XP_016865458.1  adhesion G-protein coupled receptor V1 isoform X8

    Conserved Domains (7) summary
    TIGR00845
    Location:42914495
    caca; sodium/calcium exchanger 1
    cd14964
    Location:59455967
    7tm_GPCRs; TM helix 2 [structural motif]
    pfam03736
    Location:34033444
    EPTP; EPTP domain
    pfam13385
    Location:13451495
    Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
    cl02522
    Location:40394129
    Calx-beta; Calx-beta domain
    cl02559
    Location:58605902
    GPS; GPCR proteolysis site, GPS, motif
    cl28897
    Location:59266151
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  3. XM_017009968.3XP_016865457.1  adhesion G-protein coupled receptor V1 isoform X7

    Conserved Domains (7) summary
    TIGR00845
    Location:42914495
    caca; sodium/calcium exchanger 1
    cd14964
    Location:58855907
    7tm_GPCRs; TM helix 2 [structural motif]
    pfam03736
    Location:34033444
    EPTP; EPTP domain
    pfam13385
    Location:13451495
    Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
    cl02522
    Location:40394129
    Calx-beta; Calx-beta domain
    cl02559
    Location:58005842
    GPS; GPCR proteolysis site, GPS, motif
    cl28897
    Location:58666105
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  4. XM_017009964.3XP_016865453.1  adhesion G-protein coupled receptor V1 isoform X3

    Conserved Domains (7) summary
    TIGR00845
    Location:42904494
    caca; sodium/calcium exchanger 1
    cd14964
    Location:59445966
    7tm_GPCRs; TM helix 2 [structural motif]
    pfam03736
    Location:34023443
    EPTP; EPTP domain
    pfam13385
    Location:13451495
    Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
    cl02522
    Location:40384128
    Calx-beta; Calx-beta domain
    cl02559
    Location:58595901
    GPS; GPCR proteolysis site, GPS, motif
    cl28897
    Location:59256164
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  5. XM_047417824.1XP_047273780.1  adhesion G-protein coupled receptor V1 isoform X4

  6. XM_017009966.3XP_016865455.1  adhesion G-protein coupled receptor V1 isoform X5

    Conserved Domains (7) summary
    TIGR00845
    Location:42644468
    caca; sodium/calcium exchanger 1
    cd14964
    Location:59185940
    7tm_GPCRs; TM helix 2 [structural motif]
    pfam03736
    Location:33763417
    EPTP; EPTP domain
    pfam13385
    Location:13451495
    Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
    cl02522
    Location:40124102
    Calx-beta; Calx-beta domain
    cl02559
    Location:58335875
    GPS; GPCR proteolysis site, GPS, motif
    cl28897
    Location:58996138
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  7. XM_017009967.2XP_016865456.1  adhesion G-protein coupled receptor V1 isoform X6

    Conserved Domains (7) summary
    TIGR00845
    Location:42594463
    caca; sodium/calcium exchanger 1
    cd14964
    Location:59135935
    7tm_GPCRs; TM helix 2 [structural motif]
    pfam03736
    Location:33713412
    EPTP; EPTP domain
    pfam13385
    Location:13131463
    Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
    cl02522
    Location:40074097
    Calx-beta; Calx-beta domain
    cl02559
    Location:58285870
    GPS; GPCR proteolysis site, GPS, motif
    cl28897
    Location:58946133
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  8. XM_017009971.3XP_016865460.1  adhesion G-protein coupled receptor V1 isoform X10

    Conserved Domains (4) summary
    TIGR00845
    Location:42914495
    caca; sodium/calcium exchanger 1
    pfam03736
    Location:34033444
    EPTP; EPTP domain
    pfam13385
    Location:13451495
    Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
    cl02522
    Location:40394129
    Calx-beta; Calx-beta domain
  9. XM_017009970.3XP_016865459.1  adhesion G-protein coupled receptor V1 isoform X9

    Conserved Domains (4) summary
    TIGR00845
    Location:42914495
    caca; sodium/calcium exchanger 1
    pfam03736
    Location:34033444
    EPTP; EPTP domain
    pfam13385
    Location:13451495
    Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
    cl02522
    Location:40394129
    Calx-beta; Calx-beta domain
  10. XM_047417825.1XP_047273781.1  adhesion G-protein coupled receptor V1 isoform X14

  11. XM_017009974.3XP_016865463.1  adhesion G-protein coupled receptor V1 isoform X13

    Conserved Domains (4) summary
    TIGR00845
    Location:17291947
    caca; sodium/calcium exchanger 1
    pfam03736
    Location:34033444
    EPTP; EPTP domain
    pfam13385
    Location:13451495
    Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
    cl02522
    Location:263363
    Calx-beta; Calx-beta domain
  12. XM_017009965.2XP_016865454.1  adhesion G-protein coupled receptor V1 isoform X2

    Conserved Domains (7) summary
    TIGR00845
    Location:42904494
    caca; sodium/calcium exchanger 1
    cd14964
    Location:59445966
    7tm_GPCRs; TM helix 2 [structural motif]
    pfam03736
    Location:34023443
    EPTP; EPTP domain
    pfam13385
    Location:13441494
    Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
    cl02522
    Location:40384128
    Calx-beta; Calx-beta domain
    cl02559
    Location:58595901
    GPS; GPCR proteolysis site, GPS, motif
    cl28897
    Location:59256164
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  13. XM_017009973.2XP_016865462.1  adhesion G-protein coupled receptor V1 isoform X12

    Conserved Domains (6) summary
    TIGR00845
    Location:19902194
    caca; sodium/calcium exchanger 1
    cd14964
    Location:36443666
    7tm_GPCRs; TM helix 2 [structural motif]
    pfam03736
    Location:11021143
    EPTP; EPTP domain
    cl02522
    Location:17381828
    Calx-beta; Calx-beta domain
    cl02559
    Location:35593601
    GPS; GPCR proteolysis site, GPS, motif
    cl28897
    Location:36253864
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  14. XM_017009972.2XP_016865461.1  adhesion G-protein coupled receptor V1 isoform X11

    Conserved Domains (6) summary
    TIGR00845
    Location:19972201
    caca; sodium/calcium exchanger 1
    cd14964
    Location:36513673
    7tm_GPCRs; TM helix 2 [structural motif]
    pfam03736
    Location:11091150
    EPTP; EPTP domain
    cl02522
    Location:17451835
    Calx-beta; Calx-beta domain
    cl02559
    Location:35663608
    GPS; GPCR proteolysis site, GPS, motif
    cl28897
    Location:36323871
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    91045409..91650939
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353667.1XP_054209642.1  adhesion G-protein coupled receptor V1 isoform X1

  2. XM_054353674.1XP_054209649.1  adhesion G-protein coupled receptor V1 isoform X8

  3. XM_054353673.1XP_054209648.1  adhesion G-protein coupled receptor V1 isoform X7

  4. XM_054353669.1XP_054209644.1  adhesion G-protein coupled receptor V1 isoform X3

  5. XM_054353670.1XP_054209645.1  adhesion G-protein coupled receptor V1 isoform X4

  6. XM_054353671.1XP_054209646.1  adhesion G-protein coupled receptor V1 isoform X5

  7. XM_054353672.1XP_054209647.1  adhesion G-protein coupled receptor V1 isoform X6

  8. XM_054353676.1XP_054209651.1  adhesion G-protein coupled receptor V1 isoform X10

  9. XM_054353675.1XP_054209650.1  adhesion G-protein coupled receptor V1 isoform X9

  10. XM_054353680.1XP_054209655.1  adhesion G-protein coupled receptor V1 isoform X14

  11. XM_054353679.1XP_054209654.1  adhesion G-protein coupled receptor V1 isoform X13

  12. XM_054353668.1XP_054209643.1  adhesion G-protein coupled receptor V1 isoform X2

  13. XM_054353678.1XP_054209653.1  adhesion G-protein coupled receptor V1 isoform X12

  14. XM_054353677.1XP_054209652.1  adhesion G-protein coupled receptor V1 isoform X11