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AVPR1A Gene

protein-coding   GIFtS: 69
GCID: GC12M063540

Arginine Vasopressin Receptor 1A


(Previous symbol: AVPR1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Arginine Vasopressin Receptor 1A1 2     AVPR V1a2 3
AVPR11 2 3     SCCL Vasopressin Subtype 1a Receptor2
Antidiuretic Hormone Receptor 1a2 3     V1-Vascular Vasopressin Receptor AVPR1A2
Vascular/Hepatic-Type Arginine Vasopressin Receptor2 3     V1a Vasopressin Receptor2
V1aR2 3     Vasopressin V1a Receptor2

External Ids:    HGNC: 8951   Entrez Gene: 5522   Ensembl: ENSG000001661487   OMIM: 6008215   UniProtKB: P372883   

Export aliases for AVPR1A gene to outside databases

Previous GC identifers: GC12P063279 GC12P063551 GC12M063255 GC12M061826 GC12M060591


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AVPR1A Gene:
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)

GeneCards Summary for AVPR1A Gene:
AVPR1A (arginine vasopressin receptor 1A) is a protein-coding gene. Diseases associated with AVPR1A include atypical autism, and adenomyosis. GO annotations related to this gene include vasopressin receptor activity and protein kinase C binding. An important paralog of this gene is GPR150.

UniProtKB/Swiss-Prot: V1AR_HUMAN, P37288
Function: Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which
activate a phosphatidyl-inositol-calcium second messenger system. Has been involved in social behaviors,
including affiliation and attachment

summary for AVPR1A Gene:
Vasopressin receptors are a group of G-protein-coupled receptors that mediate vasoconstriction, antidiuresis
and ACTH release. They are currently divided into three subtypes, V1A, V1B and V2 and are closely related to
oxytocin receptors (OT). V1A is coupled to Gq/11 proteins and is found at high density on smooth muscle
cells. It is involved in regulation of blood pressure through arterial vasoconstriction and has been found
to stimulate VEGF secretion. V1B is located in the hypothalamus, where it controls ACTH secretion, and in
the pancreas, where it is involved in insulin release. V2 is coupled to Gs proteins and is found exclusively
on the basolateral membrane of collecting duct cells in the kidney, where it regulates water excretion.

Gene Wiki entry for AVPR1A (Arginine vasopressin receptor 1A) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AVPR1A gene promoter:
         Max1   STAT5B   STAT1   AML1a   ATF-2   Evi-1   CRE-BP1   COMP1   ATF6   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAVPR1A promoter sequence
   Search Chromatin IP Primers for AVPR1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AVPR1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q14-q15   Ensembl cytogenetic band:  12q14.2   HGNC cytogenetic band: 12q14-q15

AVPR1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AVPR1A gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M063540:  view genomic region     (about GC identifiers)

Start:
63,539,014 bp from pter      End:
63,546,590 bp from pter
Size:
7,577 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: V1AR_HUMAN, P37288 (See protein sequence)
Recommended Name: Vasopressin V1a receptor  
Size: 418 amino acids; 46800 Da
Miscellaneous: Differences in regional receptor expression in the brain as well as differences in social behavior
may result from a highly variable repetitive sequence in the 5' flanking region of AVPR1A. One such allelic
variant has been linked to autism
1 PDB 3D structure from and Proteopedia for AVPR1A:
1YTV (3D)    

Explore the universe of human proteins at neXtProt for AVPR1A: NX_P37288

Explore proteomics data for AVPR1A at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn27, Asn196
  • Modification sites at PhosphoSitePlus

  • See AVPR1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000697.1  
    ENSEMBL proteins: 
     ENSP00000449822   ENSP00000299178  
    Reactome Protein details: P37288

    AVPR1A Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for AVPR1A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AVPR: GPCR / Class A : Vasopressin and oxytocin receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: V1A receptor
    Vasopressin and oxytocin receptors

    5 InterPro protein domains:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR001224 Vprs_V1A_rcpt
     IPR015076 DUF1856
     IPR000276 GPCR_Rhodpsn
     IPR001817 Vasoprsn_rcpt

    Graphical View of Domain Structure for InterPro Entry P37288

    ProtoNet protein and cluster: P37288

    2 Blocks protein domains:
    IPB001224 Vasopressin V1A receptor signature
    IPB001817 Vasopressin receptor signature


    UniProtKB/Swiss-Prot: V1AR_HUMAN, P37288
    Similarity: Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily


    AVPR1A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: V1AR_HUMAN, P37288
    Function: Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which
    activate a phosphatidyl-inositol-calcium second messenger system. Has been involved in social behaviors,
    including affiliation and attachment

         Genatlas biochemistry entry for AVPR1A:
    vasopressin,vascular,ViA-type receptor,G protein coupled receptor superfamily

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity ----
    GO:0005000vasopressin receptor activity IEA--
    GO:0005080protein kinase C binding TAS10858434
    GO:0005515protein binding IPI18402937
    GO:0017046peptide hormone binding IEA--
         
    AVPR1A for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for AVPR1A:
     Decreased substrate adherent c  Increased cell number in G1, s 

         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Avpr1a):
     behavior/neurological  cardiovascular system  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism 
     immune system  muscle  nervous system  normal 

    AVPR1A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for AVPR1A: Avpr1atm1Sbhu Avpr1atm1Lex Avpr1atm1Gzt

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AVPR1A
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AVPR1A
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    hsa-miR-146a* hsa-miR-4314 hsa-miR-708*
    SwitchGear 3'UTR luciferase reporter plasmidAVPR1A 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    V1AR_HUMAN, P37288: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endosome4
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768endosome TAS10858434
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS8838314
    GO:0016021integral component of membrane ----
    GO:0031410cytoplasmic vesicle IEA--

    AVPR1A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AVPR1A About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    GPCRs, Class A Rhodopsin-like0.43
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.36
    Peptide ligand-binding receptors0.60
    Vasopressin-like receptors0.00
    2Neuropeptides signaling through G protein alpha i and G protein alpha q
    Peptide GPCRs0.46
    Neuropeptides signaling through G protein alpha i and G protein alpha q0.46
    3Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    4Gastrin-CREB signalling pathway via PKC and MAPK
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    5Oxytocin signaling pathway
    Vascular smooth muscle contraction0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for AVPR1A
        GPCRs, Class A Rhodopsin-like
    Peptide GPCRs

    2 Reactome Pathways for AVPR1A
        G alpha (q) signalling events
    Vasopressin-like receptors


    3 Kegg Pathways  (Kegg details for AVPR1A):
        Calcium signaling pathway
    Neuroactive ligand-receptor interaction
    Vascular smooth muscle contraction


    AVPR1A for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AVPR1A: 
              Neurotransmitter Receptors in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat
              Hypertension in human mouse rat
              Hepatotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for AVPR1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AVPR1A (P372883 ENSP000002991784) via UniProtKB, MINT, STRING, and/or I2D (see all 136)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AVPP011853, ENSP000003696474I2D: score=1 STRING: ENSP00000369647
    GRK5P349473, ENSP000003766094I2D: score=2 STRING: ENSP00000376609
    PRKCAP172523, ENSP000002843844I2D: score=2 STRING: ENSP00000284384
    ADRA1DENSP000003687664STRING: ENSP00000368766
    ADRBK1ENSP000003122624STRING: ENSP00000312262
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 31):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001992regulation of systemic arterial blood pressure by vasopressin IEA--
    GO:0002125maternal aggressive behavior IEA--
    GO:0003084positive regulation of systemic arterial blood pressure IEA--
    GO:0006091generation of precursor metabolites and energy TAS8106369
    GO:0007186G-protein coupled receptor signaling pathway TAS10858434

    AVPR1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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      Browse compounds at ApexBio 

    Compounds for AVPR1A available from Tocris Bioscience    About this table
    CompoundAction CAS #
    d[Leu4,Lys8]-VP Selective V1B agonist[42061-33-6]
    [Arg8]-VasopressinAntidiuretic hormone[113-79-1]
    SR 49059 Selective, orally active vasopressin V1A receptor antagonist [150375-75-0]
    DesmopressinSynthetic vasopressin analog; V1B and V2 agonist[16679-58-6]
    (d(CH2)51,Tyr(Me)2,Arg8)-Vasopressin Selective vasopressin V1A antagonist[73168-24-8]

    2 HMDB Compounds for AVPR1A    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Vasopressin3-(Phenylalanine)-8-lysine oxytocin (see all 8)11000-17-2--

    6 DrugBank Compounds for AVPR1A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ConivaptanConivaptan hydrochloride (see all 3)210101-16-9targetantagonist19057376 17592003 17202666 20054444 19695403 11752352 17919259 19663609 16522696 17428103
    TerlipressinN-(N-(N-Glycylglycyl)glycyl)-8-L-lysinevasopressin (see all 4)14636-12-5targetstimulator17275806 16011575 17303660 11752352 16532916 16511036
    Vasopressin3-Isoleucyl vasopressin (see all 8)11000-17-2target--17275806 17303660 16011575 16511036 16532916
    Desmopressin1-Desamino-8-D-arginine vasopressin (see all 4)16679-58-6target--10594321 8957254 15613460 10731046
    Felypressin-- 56-59-7targetagonist18655903 17139284 11752352 17016423
    Tolvaptan-- 150683-30-0targetantagonist20637957

    Selected IUPHAR Ligands for AVPR1A (V1A receptor) (see all 55)    About this table
    LigandTypeActionAffinityPubmed IDs
    [125I]OH-LVA
    AntagonistAntagonist10.3 - 10.410866830 7774575 9334232
    [3H]AVP
    AgonistFull agonist8.6 - 10.211429400 9884074 9264324 10866830 8106369 9334232 10780976 9459574 9864265 9792651 11337500 7774575 9322919
    [125I]3-N3-Phpa-LVA
    AntagonistAntagonist9.99334232
    3-N3-Phpa-LVA
    AntagonistAntagonist9.69334232
    YM 218
    AntagonistAntagonist9.515661579
    d(CH2)5[Tyr(Me)2,Thr4,Phe(3125I,4N3)-NH29]OVT
    AntagonistAntagonist9.311337500
    SR 49059
    AntagonistAntagonist8.1 - 9.311429400 9884074 16158071 10866830 9322919 10519430 8106369 9334232 11012895
    OH-LVA
    AntagonistAntagonist9.39322919
    vasopressin
    AgonistFull agonist8.5 - 9.39884074 12446593 9264324 10866830 9322919 10519430 8106369 9334232 10780976 9459574 15084136 9864265
    d(CH2)5[Tyr(Me)2]AVP
    AntagonistAntagonist8.4 - 9.29884074 9264324 10866830 9322919 9334232 9459574

    10 Novoseek inferred chemical compound relationships for AVPR1A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ovta 90.3 2 15613460 (1)
    sr49059 89.9 10 15823830 (2), 16565083 (2), 12869559 (2), 14678081 (1) (see all 6)
    atosiban 79.3 2 10519430 (1), 12436949 (1)
    arginine 68.7 34 16520824 (2), 19195791 (2), 18655892 (2), 18655900 (2) (see all 20)
    acth 42.2 3 12160092 (1), 15642780 (1), 16114100 (1)
    calcium 12.8 11 12764111 (3), 15613460 (2), 7969820 (1), 17360584 (1) (see all 5)
    prazosin 12.6 1 10486651 (1)
    lysine 0 2 9141585 (1)
    phosphatidylinositol 0 2 9284404 (1), 8621513 (1)
    cysteine 0 2 10544254 (1), 12869559 (1)



    AVPR1A for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AVPR1A gene: 
    NM_000706.4  

    Unigene Cluster for AVPR1A:

    Arginine vasopressin receptor 1A
    Hs.2131  [show with all ESTs]
    Unigene Representative Sequence: NM_000706
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000550940 ENST00000299178(uc001sro.1)
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidAVPR1A 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat AVPR1A
      QuantiFast Probe-based Assays in human, mouse, rat AVPR1A

    Additional mRNA sequence: 

    AF030625.1 AF101725.1 AY322550.1 BC074803.2 BC074804.2 L25615.1 S73899.1 

    3 DOTS entries:

    DT.310927  DT.436381  DT.65285985 

    Selected AceView cDNA sequences (see all 41):

    BX452085 AW293471 BX409993 NM_000706 AI521688 AL041679 AF101725 BU072335 
    AW451399 AF030625 AY322550 AI796495 BC074804 AI654158 BX461255 S73899 
    BV203119 R72131 CB048700 AA448190 AW470784 AW449842 BC074803 AI634010 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AVPR1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGGGGAAT
    AVPR1A Expression
    About this image


    AVPR1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
     
     Liver (Hepatobiliary System)
             Perivenous Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Zeugopod Growth Plate
     
     Kidney (Urinary System)
    AVPR1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AVPR1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.2131
        Pathway & Disease-focused RT2 Profiler PCR Arrays including AVPR1A: 
              Neurotransmitter Receptors in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat
              Hypertension in human mouse rat
              Hepatotoxicity in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for AVPR1A gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Avpr1a1 , 5 arginine vasopressin receptor 1A1, 5 83.25(n)1
    83.01(a)1
      10 (70.36 cM)5
    541401  NM_016847.21  NP_058543.21 
     1224484995 
    chicken
    (Gallus gallus)
    Aves AVPR1A1 arginine vasopressin receptor 1A 75.59(n)
    71.78(a)
      771773  NM_001110438.1  NP_001103908.1 
    lizard
    (Anolis carolinensis)
    Reptilia AVPR1A6
    arginine vasopressin receptor 1A
    67(a)
    1 ↔ 1
    5(50861551-50877726)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia avpr1a1 arginine vasopressin receptor 1A 69.85(n)
    71.31(a)
      100488869  XM_002931618.2  XP_002931664.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5715911 Arg8-vasotocin receptor-like 66.67(n)
    63.44(a)
      571591  XM_695195.3  XP_700287.2 
    worm
    (Caenorhabditis elegans)
    Secernentea T07D10.23
    F14F4.11
    conopressin receptor like3
    F14F4.11
    29(a)3
    43.8(n)1
    33.58(a)1
      I(12629224-12631137)3
    1844711  NM_078076.11  NP_510477.11 


    ENSEMBL Gene Tree for AVPR1A (if available)
    TreeFam Gene Tree for AVPR1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AVPR1A gene
    GPR1502  AVPR22  AVPR1B2  OXTR2  GNRHR2  NPSR12  
    5 SIMAP similar genes for AVPR1A using alignment to 2 protein entries:     V1AR_HUMAN (see all proteins):
    AVPR1    AVPR1B    OXTR    AVPR2    GNRHR

    AVPR1A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AVPR1A (see all 316)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2005142441,2
    --63536078(+) AAAAG-/AAAAAA 1 -- int10--------
    rs79679701,2
    C,F,A,H--63536136(+) GTCTAC/GTGGGA 1 -- int15Minor allele frequency- G:0.05NS EA WA 526
    rs740976471,2
    C,F--63536142(+) TGGGAA/GAAAAT 1 -- int12Minor allele frequency- G:0.10WA 120
    rs79679901,2
    C,F,A,H--63536241(+) AGATGA/TTGTTT 1 -- int111Minor allele frequency- T:0.19NS EA NA WA CSA 658
    rs1811560191,2
    --63536272(+) ATGACA/GTCAGC 1 -- int10--------
    rs1864672761,2
    --63536278(+) TCAGCA/TAACCT 1 -- int10--------
    rs740976491,2
    C,F--63536349(+) ACTTAT/CTGAAA 1 -- int13Minor allele frequency- C:0.10WA CSA 122
    rs1915257151,2
    --63536388(+) CTATGC/GTCACT 1 -- int10--------
    rs740976511,2
    C,F--63536565(+) TAGAAA/GCAAGA 1 -- ut314Minor allele frequency- G:0.11WA CSA 124
    rs1138417221,2
    F--63536678(+) TTTATC/AACTCA 1 -- ut311Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for AVPR1A (63539014 - 63546590 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for AVPR1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv469592CNV Loss16826518
    nsv899164CNV Loss21882294
    dgv1434n71CNV Loss21882294
    nsv832436CNV Gain17160897

    Human Gene Mutation Database (HGMD): AVPR1A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AVPR1A
    DNA2.0 Custom Variant and Variant Library Synthesis for AVPR1A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600821    OMIM disorders: --

    Selected diseases for AVPR1A (see all 24):    
    About MalaCards
    atypical autism    adenomyosis    borderline personality disorder    portal hypertension
    acth-independent macronodular adrenal hyperplasia    personality disorder    nephrogenic diabetes insipidus    diabetes insipidus
    asperger syndrome    autistic disorder    hepatitis    autism spectrum disorder
    bipolar disorder    small cell carcinoma    panic disorder    anorexia nervosa
    hypertension    essential hypertension    ischemia    sepsis

    2 diseases from the University of Copenhagen DISEASES database for AVPR1A:
    Autistic disorder     Atypical autism

    AVPR1A for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for AVPR1A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adrenal hyperplasia 69.3 1 12466375 (1)
    dysmenorrhea 63.6 5 10826575 (2), 14678081 (1), 16532916 (1), 16706682 (1)
    tumors 1.95 1 18427561 (1)
    ischemia 0 1 16532916 (1)
    cancer lung 0 1 15613460 (1)
    bipolar disorder 0 1 16403186 (1)
    carcinoma 0 1 8050087 (1)

    Genetic Association Database (GAD): AVPR1A
    Human Genome Epidemiology (HuGE) Navigator: AVPR1A (27 documents)

    Export disorders for AVPR1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AVPR1A gene, integrated from 10 sources (see all 187):
    (articles sorted by number of sources associating them with AVPR1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning, sequencing, and functional expression of a cDNA encoding the human V1a vasopressin receptor. (PubMed id 8106369)1, 2, 3, 9 Thibonnier M....Clauser E. (J. Biol. Chem. 1994)
    2. Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: mediation by socialization skills. (PubMed id 16520824)1, 4, 9 Yirmiya N....Ebstein R.P. (Mol. Psychiatry 2006)
    3. Association between arginine vasopressin 1a receptor (AVPR1a) promoter region polymorphisms and prepulse inhibition. (PubMed id 19195791)1, 4, 9 Levin R....Ebstein R.P. (Psychoneuroendocrinology 2009)
    4. Genetic variation in the vasopressin receptor 1a gene (AVPR1A) associates with pair-bonding behavior in humans. (PubMed id 18765804)1, 4, 9 Walum H....Lichtenstein P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    5. Vasopressin V1a receptor polymorphism and interval walking training effects in middle-aged and older people. (PubMed id 20142561)1, 4, 9 Masuki S....Nose H. (Hypertension 2010)
    6. Expression of all known vasopressin receptor subtypes by small cell tumors implies a multifaceted role for this neuropeptide. (PubMed id 9581826)1, 2, 9 North W.G.... Du J. (Cancer Res. 1998)
    7. Functional vasopressin V1 type receptors are present in variant as well as classical forms of small-cell carcinoma. (PubMed id 9357056)1, 2, 9 North W.G.... Du J. (Peptides 1997)
    8. Musical aptitude is associated with AVPR1A-haplotypes. (PubMed id 19461995)1, 4, 9 Ukkola L.T....JAorvelAo I. (PLoS ONE 2009)
    9. Anorexia nervosa, perfectionism, and dopamine D4 receptor (DRD4). (PubMed id 17440932)1, 4, 9 Bachner-Melman R....Ebstein R.P. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007)
    10. AVPR1a and SLC6A4 gene polymorphisms are associated with creative dance performance. (PubMed id 16205790)1, 4, 9 Bachner-Melman R....Ebstein R.P. (PLoS Genet. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 552 HGNC: 895 AceView: AVPR1A Ensembl:ENSG00000166148 euGenes: HUgn552
    ECgene: AVPR1A Kegg: 552 H-InvDB: AVPR1A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AVPR1A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AVPR1A gene:
    Search GeneIP for patents involving AVPR1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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