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    AVPR1A arginine vasopressin receptor 1A [ Homo sapiens (human) ]

    Gene ID: 552, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AVPR1Aprovided by HGNC
    Official Full Name
    arginine vasopressin receptor 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:895
    See related
    Ensembl:ENSG00000166148 MIM:600821; AllianceGenome:HGNC:895
    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
    V1aR; AVPR1; AVPR V1a
    Summary
    The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in adrenal (RPKM 29.7), endometrium (RPKM 8.7) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AVPR1A in Genome Data Viewer
    Location:
    12q14.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (63142759..63151201, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (63121411..63352402, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (63536539..63544981, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene lactate dehydrogenase A like 6C, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:63418609-63419110 Neighboring gene MPRA-validated peak1754 silencer Neighboring gene ribosomal L24 domain containing 1 pseudogene 5 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 69 Neighboring gene long intergenic non-protein coding RNA 3056

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Association between arginine vasopressin 1a receptor (AVPR1a) promoter region polymorphisms and prepulse inhibition. Levin R, et al. Psychoneuroendocrinology, 2009 Jul. PMID 19195791
    2. Pharmacological chaperone activity of SR49059 to functionally recover misfolded mutations of the vasopressin V1a receptor. Hawtin SR. J Biol Chem, 2006 May 26. PMID 16565083
    3. Sex-specific mediation effect of the right fusiform face area volume on the association between variants in repeat length of AVPR1A RS3 and altruistic behavior in healthy adults. Wang J, et al. Hum Brain Mapp, 2016 Jul. PMID 27027249, Free PMC Article
    4. Individual differences in allocation of funds in the dictator game associated with length of the arginine vasopressin 1a receptor RS3 promoter region and correlation between RS3 length and hippocampal mRNA. Knafo A, et al. Genes Brain Behav, 2008 Apr. PMID 17696996
    5. A genome-wide approach to children's aggressive behavior: The EAGLE consortium. Pappa I, et al. Am J Med Genet B Neuropsychiatr Genet, 2016 Jul. PMID 26087016

    See all (108) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association between arginine vasopressin receptor 1A (AVPR1A) polymorphism and inequity aversion.
      Title: Association between arginine vasopressin receptor 1A (AVPR1A) polymorphism and inequity aversion.
    2. Exploiting Dependence of Castration-Resistant Prostate Cancer on the Arginine Vasopressin Signaling Axis by Repurposing Vaptans.
      Title: Exploiting Dependence of Castration-Resistant Prostate Cancer on the Arginine Vasopressin Signaling Axis by Repurposing Vaptans.
    3. Evidence for association of vasopressin receptor 1A promoter region repeat with childhood onset aggression.
      Title: Evidence for association of vasopressin receptor 1A promoter region repeat with childhood onset aggression.
    4. Class A G protein-coupled receptors assemble into functional higher-order hetero-oligomers.
      Title: Class A G protein-coupled receptors assemble into functional higher-order hetero-oligomers.
    5. Cumulative Risk on Oxytocin-Pathway Genes Impairs Default Mode Network Connectivity in Trauma-Exposed Youth.
      Title: Cumulative Risk on Oxytocin-Pathway Genes Impairs Default Mode Network Connectivity in Trauma-Exposed Youth.
    6. Neural mechanisms of AVPR1A RS3-RS1 haplotypes that impact verbal learning and memory.
      Title: Neural mechanisms of AVPR1A RS3-RS1 haplotypes that impact verbal learning and memory.
    7. No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies.
      Title: No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies.
    8. Peripheral Blood Mononuclear Cell Oxytocin and Vasopressin Receptor Expression Positively Correlates with Social and Behavioral Function in Children with Autism.
      Title: Peripheral Blood Mononuclear Cell Oxytocin and Vasopressin Receptor Expression Positively Correlates with Social and Behavioral Function in Children with Autism.
    9. Depletion of AVPR1A in castration-resistant prostate cancer cells resulted in decreased cell proliferation and reduced cyclin A.
      Title: Arginine vasopressin receptor 1a is a therapeutic target for castration-resistant prostate cancer.
    10. The single nucleotide polymorphisms rs11174811 and rs3803107 in the AVPR1A gene are associated with an increased risk of hypertension in the Chinese Han population. This may be related to the effect of these variants on the regulation of AVPR1A expression by miRNAs.
      Title: Correlation between miRNA target site polymorphisms in the 3' UTR of AVPR1A and the risk of hypertension in the Chinese Han population.
    Submit: New GeneRIF Correction See all GeneRIFs (78)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables V1A vasopressin receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptide hormone binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase C binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables vasopressin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables vasopressin receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in blood circulation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to hormone stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to water deprivation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in generation of precursor metabolites and energy TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in grooming behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in maternal aggressive behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in maternal behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in myotube differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of female receptivity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transmission of nerve impulse IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cellular pH reduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of glutamate secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of heart rate IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of prostaglandin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of systemic arterial blood pressure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of vasoconstriction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of systemic arterial blood pressure by vasopressin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to corticosterone IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in social behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sperm ejaculation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in telencephalon development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endocytic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    vasopressin V1a receptor
    Names
    SCCL vasopressin subtype 1a receptor
    V1-vascular vasopressin receptor AVPR1A
    V1a vasopressin receptor
    antidiuretic hormone receptor 1A
    vascular/hepatic-type arginine vasopressin receptor

    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.

    mRNA and Protein(s)

    1. NM_000706.5 → NP_000697.1  vasopressin V1a receptor

      See identical proteins and their annotated locations for NP_000697.1

      Status: REVIEWED

      Source sequence(s)
      AA533159, AC135584, AF101725
      Consensus CDS
      CCDS8965.1
      UniProtKB/Swiss-Prot
      P37288
      UniProtKB/TrEMBL
      Q3S2J4, X5D2B0
      Related
      ENSP00000299178.3, ENST00000299178.4
      Conserved Domains (2) summary
      pfam08983
      Location:372 → 418
      DUF1856; Domain of unknown function (DUF1856)
      cd15385
      Location:52 → 359
      7tmA_V1aR; vasopressin receptor subtype 1A, member of the class A family of seven-transmembrane G protein-coupled receptors

    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

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      63142759..63151201 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      63121411..63352402 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372405.1 → XP_054228380.1  vasopressin V1a receptor isoform X1

      UniProtKB/TrEMBL
      Q3S2J4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P37288.1 GenPept UniProtKB/Swiss-Prot:P37288

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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