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

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: mouse all
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Genomic context

Location:: 5q14.3

Exon count:: 91

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (90558797..91164437)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (91045409..91650939)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (89854614..90460254)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The adhesion G protein-coupled receptor VLGR1/ADGRV1 controls autophagy.
Title: The adhesion G protein-coupled receptor VLGR1/ADGRV1 controls autophagy.
Monitoring paxillin in astrocytes reveals the significance of the adhesion G protein coupled receptor VLGR1/ADGRV1 for focal adhesion assembly.
Title: Monitoring paxillin in astrocytes reveals the significance of the adhesion G protein coupled receptor VLGR1/ADGRV1 for focal adhesion assembly.
Genotype and phenotype analysis of epilepsy caused by ADGRV1 mutations in Chinese children.
Title: Genotype and phenotype analysis of epilepsy caused by ADGRV1 mutations in Chinese children.
Affinity Proteomics Identifies Interaction Partners and Defines Novel Insights into the Function of the Adhesion GPCR VLGR1/ADGRV1.
Title: Affinity Proteomics Identifies Interaction Partners and Defines Novel Insights into the Function of the Adhesion GPCR VLGR1/ADGRV1.
Biallelic ADGRV1 variants are associated with Rolandic epilepsy.
Title: Biallelic ADGRV1 variants are associated with Rolandic epilepsy.
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
Title: Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
Genomewide Gene-by-Sex Interaction Scans Identify ADGRV1 for Sex Differences in Opioid Dependent African Americans.
Title: Genomewide Gene-by-Sex Interaction Scans Identify ADGRV1 for Sex Differences in Opioid Dependent African Americans.
Likely causative mutations were found in all patients: 25 pathogenic variants, 18 previously reported and 7 novel, were identified in three genes (USH2A, MYO7A, ADGRV1). All USH1 presented biallelic MYO7A mutations, one USH2 exhibited ADGRV1 mutations, whereas 16 USH2 displayed USH2A mutations
Title: Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.
The mutations found in our study not only broaden the mutation spectrum of ADGRV1, but also provide assistances for future genetic diagnosis and treatment for Usher syndrome patients.
Title: Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC.
GPR98 missense mutation is associated with usher syndrome type IIC.
Title: A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S3647 (e-PCR), detects polymorphism
- UniSTS:53253

SHGC-105215 (e-PCR)
- UniSTS:169238

RH118790 (e-PCR)
- UniSTS:138291

D3S3658 (e-PCR), detects polymorphism
- UniSTS:576

D5S1898 (e-PCR)
- UniSTS:16711

D5S1463 (e-PCR), detects polymorphism
- UniSTS:20575

SHGC-82576 (e-PCR)
- UniSTS:100711

G17003 (e-PCR)
- UniSTS:67433

SHGC-86171 (e-PCR)
- UniSTS:104812

D3S1578 (e-PCR)
- UniSTS:48238

GPR98 (e-PCR)
- UniSTS:504945

D5S1832E (e-PCR)
- UniSTS:153752

D5S428 (e-PCR), detects polymorphism
- UniSTS:23972

SHGC-154422 (e-PCR)
- UniSTS:178094

L28341 (e-PCR)
- UniSTS:50866

D5S484 (e-PCR)
- UniSTS:18359

G65490 (e-PCR)
- UniSTS:166590

RH119209 (e-PCR)
- UniSTS:138718

D5S433 (e-PCR), detects polymorphism
- UniSTS:74481

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	ISS Inferred from Sequence or Structural Similarity 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	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 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 more info	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

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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)

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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

NG_007083.2 RefSeqGene

Range

34454..640094

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1095

mRNA and Protein(s)

NM_032119.4 → NP_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:3395 → 3438

EPTP; EPTP domain

pfam13385
Location:1345 → 1495

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:4267 → 4354

Calx-beta; Calx-beta domain

cl02559
Location:5853 → 5895

GPS; GPCR proteolysis site, GPS, motif

cl21561
Location:5915 → 6148

7tm_4; Olfactory receptor

RNA

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

90558797..91164437

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (7) summary

TIGR00845
Location:4291 → 4495

caca; sodium/calcium exchanger 1

cd14964
Location:5945 → 5967

7tm_GPCRs; TM helix 2 [structural motif]

pfam03736
Location:3403 → 3444

EPTP; EPTP domain

pfam13385
Location:1345 → 1495

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:4039 → 4129

Calx-beta; Calx-beta domain

cl02559
Location:5860 → 5902

GPS; GPCR proteolysis site, GPS, motif

cl28897
Location:5926 → 6165

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_017009969.3 → XP_016865458.1 adhesion G-protein coupled receptor V1 isoform X8

Conserved Domains (7) summary

TIGR00845
Location:4291 → 4495

caca; sodium/calcium exchanger 1

cd14964
Location:5945 → 5967

7tm_GPCRs; TM helix 2 [structural motif]

pfam03736
Location:3403 → 3444

EPTP; EPTP domain

pfam13385
Location:1345 → 1495

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:4039 → 4129

Calx-beta; Calx-beta domain

cl02559
Location:5860 → 5902

GPS; GPCR proteolysis site, GPS, motif

cl28897
Location:5926 → 6151

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_017009968.3 → XP_016865457.1 adhesion G-protein coupled receptor V1 isoform X7

Conserved Domains (7) summary

TIGR00845
Location:4291 → 4495

caca; sodium/calcium exchanger 1

cd14964
Location:5885 → 5907

7tm_GPCRs; TM helix 2 [structural motif]

pfam03736
Location:3403 → 3444

EPTP; EPTP domain

pfam13385
Location:1345 → 1495

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:4039 → 4129

Calx-beta; Calx-beta domain

cl02559
Location:5800 → 5842

GPS; GPCR proteolysis site, GPS, motif

cl28897
Location:5866 → 6105

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_017009964.3 → XP_016865453.1 adhesion G-protein coupled receptor V1 isoform X3

Conserved Domains (7) summary

TIGR00845
Location:4290 → 4494

caca; sodium/calcium exchanger 1

cd14964
Location:5944 → 5966

7tm_GPCRs; TM helix 2 [structural motif]

pfam03736
Location:3402 → 3443

EPTP; EPTP domain

pfam13385
Location:1345 → 1495

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:4038 → 4128

Calx-beta; Calx-beta domain

cl02559
Location:5859 → 5901

GPS; GPCR proteolysis site, GPS, motif

cl28897
Location:5925 → 6164

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_047417824.1 → XP_047273780.1 adhesion G-protein coupled receptor V1 isoform X4
XM_017009966.3 → XP_016865455.1 adhesion G-protein coupled receptor V1 isoform X5

Conserved Domains (7) summary

TIGR00845
Location:4264 → 4468

caca; sodium/calcium exchanger 1

cd14964
Location:5918 → 5940

7tm_GPCRs; TM helix 2 [structural motif]

pfam03736
Location:3376 → 3417

EPTP; EPTP domain

pfam13385
Location:1345 → 1495

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:4012 → 4102

Calx-beta; Calx-beta domain

cl02559
Location:5833 → 5875

GPS; GPCR proteolysis site, GPS, motif

cl28897
Location:5899 → 6138

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_017009967.2 → XP_016865456.1 adhesion G-protein coupled receptor V1 isoform X6

Conserved Domains (7) summary

TIGR00845
Location:4259 → 4463

caca; sodium/calcium exchanger 1

cd14964
Location:5913 → 5935

7tm_GPCRs; TM helix 2 [structural motif]

pfam03736
Location:3371 → 3412

EPTP; EPTP domain

pfam13385
Location:1313 → 1463

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:4007 → 4097

Calx-beta; Calx-beta domain

cl02559
Location:5828 → 5870

GPS; GPCR proteolysis site, GPS, motif

cl28897
Location:5894 → 6133

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_017009971.3 → XP_016865460.1 adhesion G-protein coupled receptor V1 isoform X10

Conserved Domains (4) summary

TIGR00845
Location:4291 → 4495

caca; sodium/calcium exchanger 1

pfam03736
Location:3403 → 3444

EPTP; EPTP domain

pfam13385
Location:1345 → 1495

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:4039 → 4129

Calx-beta; Calx-beta domain
XM_017009970.3 → XP_016865459.1 adhesion G-protein coupled receptor V1 isoform X9

Conserved Domains (4) summary

TIGR00845
Location:4291 → 4495

caca; sodium/calcium exchanger 1

pfam03736
Location:3403 → 3444

EPTP; EPTP domain

pfam13385
Location:1345 → 1495

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:4039 → 4129

Calx-beta; Calx-beta domain
XM_047417825.1 → XP_047273781.1 adhesion G-protein coupled receptor V1 isoform X14
XM_017009974.3 → XP_016865463.1 adhesion G-protein coupled receptor V1 isoform X13

Conserved Domains (4) summary

TIGR00845
Location:1729 → 1947

caca; sodium/calcium exchanger 1

pfam03736
Location:3403 → 3444

EPTP; EPTP domain

pfam13385
Location:1345 → 1495

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:263 → 363

Calx-beta; Calx-beta domain
XM_017009965.2 → XP_016865454.1 adhesion G-protein coupled receptor V1 isoform X2

Conserved Domains (7) summary

TIGR00845
Location:4290 → 4494

caca; sodium/calcium exchanger 1

cd14964
Location:5944 → 5966

7tm_GPCRs; TM helix 2 [structural motif]

pfam03736
Location:3402 → 3443

EPTP; EPTP domain

pfam13385
Location:1344 → 1494

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:4038 → 4128

Calx-beta; Calx-beta domain

cl02559
Location:5859 → 5901

GPS; GPCR proteolysis site, GPS, motif

cl28897
Location:5925 → 6164

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_017009973.2 → XP_016865462.1 adhesion G-protein coupled receptor V1 isoform X12

Conserved Domains (6) summary

TIGR00845
Location:1990 → 2194

caca; sodium/calcium exchanger 1

cd14964
Location:3644 → 3666

7tm_GPCRs; TM helix 2 [structural motif]

pfam03736
Location:1102 → 1143

EPTP; EPTP domain

cl02522
Location:1738 → 1828

Calx-beta; Calx-beta domain

cl02559
Location:3559 → 3601

GPS; GPCR proteolysis site, GPS, motif

cl28897
Location:3625 → 3864

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_017009972.2 → XP_016865461.1 adhesion G-protein coupled receptor V1 isoform X11

Conserved Domains (6) summary

TIGR00845
Location:1997 → 2201

caca; sodium/calcium exchanger 1

cd14964
Location:3651 → 3673

7tm_GPCRs; TM helix 2 [structural motif]

pfam03736
Location:1109 → 1150

EPTP; EPTP domain

cl02522
Location:1745 → 1835

Calx-beta; Calx-beta domain

cl02559
Location:3566 → 3608

GPS; GPCR proteolysis site, GPS, motif

cl28897
Location:3632 → 3871

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

91045409..91650939

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054353667.1 → XP_054209642.1 adhesion G-protein coupled receptor V1 isoform X1
XM_054353674.1 → XP_054209649.1 adhesion G-protein coupled receptor V1 isoform X8
XM_054353673.1 → XP_054209648.1 adhesion G-protein coupled receptor V1 isoform X7
XM_054353669.1 → XP_054209644.1 adhesion G-protein coupled receptor V1 isoform X3
XM_054353670.1 → XP_054209645.1 adhesion G-protein coupled receptor V1 isoform X4
XM_054353671.1 → XP_054209646.1 adhesion G-protein coupled receptor V1 isoform X5
XM_054353672.1 → XP_054209647.1 adhesion G-protein coupled receptor V1 isoform X6
XM_054353676.1 → XP_054209651.1 adhesion G-protein coupled receptor V1 isoform X10
XM_054353675.1 → XP_054209650.1 adhesion G-protein coupled receptor V1 isoform X9
XM_054353680.1 → XP_054209655.1 adhesion G-protein coupled receptor V1 isoform X14
XM_054353679.1 → XP_054209654.1 adhesion G-protein coupled receptor V1 isoform X13
XM_054353668.1 → XP_054209643.1 adhesion G-protein coupled receptor V1 isoform X2
XM_054353678.1 → XP_054209653.1 adhesion G-protein coupled receptor V1 isoform X12
XM_054353677.1 → XP_054209652.1 adhesion G-protein coupled receptor V1 isoform X11