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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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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