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 aggregatio... See more...

Aliases for AVPR1A Gene

Aliases for AVPR1A Gene

  • Arginine Vasopressin Receptor 1A 2 3 5
  • Vascular/Hepatic-Type Arginine Vasopressin Receptor 3 4
  • Vasopressin V1a Receptor 3 4
  • AVPR V1a 3 4
  • AVPR1 3 4
  • V1aR 3 4
  • V1-Vascular Vasopressin Receptor AVPR1A 3
  • SCCL Vasopressin Subtype 1a Receptor 3
  • Antidiuretic Hormone Receptor 1A 3
  • Antidiuretic Hormone Receptor 1a 4
  • V1a Vasopressin Receptor 3
  • AVPR1A 5

External Ids for AVPR1A Gene

Previous HGNC Symbols for AVPR1A Gene

  • AVPR1

Previous GeneCards Identifiers for AVPR1A Gene

  • GC12P063279
  • GC12P063551
  • GC12M063255
  • GC12M061826
  • GC12M063540
  • GC12M060591

Summaries for AVPR1A Gene

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 Acth-Independent Macronodular Adrenal Hyperplasia and Diabetes Insipidus. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and protein kinase C binding. An important paralog of this gene is AVPR1B.

UniProtKB/Swiss-Prot Summary for AVPR1A Gene

  • 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.

Tocris 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).

Gene Wiki entry for AVPR1A Gene

Additional gene information for AVPR1A Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AVPR1A Gene

Genomics for AVPR1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AVPR1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J063151 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -0.4 -361 1.7 CTCF TEAD4 PRDM10 KDM1A ZIC2 RAD21 EZH2 ZNF341 ZNF561 SCRT2 AVPR1A ENSG00000279444 lnc-MON2-3 piR-33605-116 DPY19L2
GH12J063149 Enhancer 0.3 ENCODE 600.7 +0.8 795 0.1 EZH2 MAX AVPR1A ENSG00000279444 lnc-MON2-3 lnc-AVPR1A-2 PPM1H
GH12J063150 Enhancer 0.3 ENCODE 600.7 +0.5 535 0.1 EZH2 MAX AVPR1A ENSG00000279444 lnc-MON2-3 lnc-AVPR1A-2 PPM1H
GH12J063095 Enhancer 0.6 ENCODE 11 +55.6 55586 1.2 SP1 CEBPA ATF3 YY1 JUND ATF4 CEBPB TFAP4 HNF4A NFIL3 AVPR1A lnc-AVPR1A-2 RSL24D1P5 PPM1H
GH12J063940 Enhancer 1 FANTOM5 Ensembl 4.9 -791.4 -791400 7.2 CEBPG GATAD2A RXRB GABPA CEBPA SOX13 CEBPB TCF7 TGIF2 ZNF316 RNU6-1009P AVPR1A lnc-RXYLT1-2 lnc-RXYLT1-3 SRGAP1 C12orf66
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AVPR1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AVPR1A

Top Transcription factor binding sites by QIAGEN in the AVPR1A gene promoter:
  • AML1a
  • ATF-2
  • ATF6
  • c-Myc
  • COMP1
  • CRE-BP1
  • Evi-1
  • Max1
  • STAT1
  • STAT5B

Genomic Locations for AVPR1A Gene

Genomic Locations for AVPR1A Gene
chr12:63,142,759-63,151,201
(GRCh38/hg38)
Size:
8,443 bases
Orientation:
Minus strand
chr12:63,539,014-63,546,590
(GRCh37/hg19)
Size:
7,577 bases
Orientation:
Minus strand

Genomic View for AVPR1A Gene

Genes around AVPR1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AVPR1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AVPR1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AVPR1A Gene

Proteins for AVPR1A Gene

  • Protein details for AVPR1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P37288-V1AR_HUMAN
    Recommended name:
    Vasopressin V1a receptor
    Protein Accession:
    P37288

    Protein attributes for AVPR1A Gene

    Size:
    418 amino acids
    Molecular mass:
    46800 Da
    Quaternary structure:
    No Data Available
    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.

    Three dimensional structures from OCA and Proteopedia for AVPR1A Gene

neXtProt entry for AVPR1A Gene

Post-translational modifications for AVPR1A Gene

  • Glycosylation at Asn27 and Asn196
  • Modification sites at PhosphoSitePlus

Other Protein References for AVPR1A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AVPR1A Gene

Domains & Families for AVPR1A Gene

Gene Families for AVPR1A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • G-protein coupled receptors
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for AVPR1A Gene

InterPro:
Blocks:
  • Vasopressin V1A receptor signature
  • Vasopressin receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for AVPR1A Gene

GenScript: Design optimal peptide antigens:
  • Arginine vasopressin receptor 1 (Q3S2J4_HUMAN)
  • Vascular/hepatic-type arginine vasopressin receptor (V1AR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P37288

UniProtKB/Swiss-Prot:

V1AR_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.
Family:
  • Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.
genes like me logo Genes that share domains with AVPR1A: view

Function for AVPR1A Gene

Molecular function for AVPR1A Gene

UniProtKB/Swiss-Prot 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:
vasopressin,vascular,ViA-type receptor,G protein coupled receptor superfamily

Phenotypes From GWAS Catalog for AVPR1A Gene

Gene Ontology (GO) - Molecular Function for AVPR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA,IBA 21873635
GO:0005000 vasopressin receptor activity IEA,IDA 9322919
GO:0005080 protein kinase C binding TAS 10858434
GO:0005515 protein binding IPI 18402937
GO:0017046 peptide hormone binding IEA --
genes like me logo Genes that share ontologies with AVPR1A: view
genes like me logo Genes that share phenotypes with AVPR1A: view

Animal Models for AVPR1A Gene

MGI Knock Outs for AVPR1A:

Animal Model Products

  • Taconic Biosciences Mouse Models for AVPR1A

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AVPR1A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AVPR1A Gene

Localization for AVPR1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for AVPR1A Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AVPR1A gene
Compartment Confidence
plasma membrane 5
endosome 4
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for AVPR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005768 endosome IDA 14757828
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with AVPR1A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AVPR1A Gene

Pathways & Interactions for AVPR1A Gene

genes like me logo Genes that share pathways with AVPR1A: view

SIGNOR curated interactions for AVPR1A Gene

Activates:

Gene Ontology (GO) - Biological Process for AVPR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001992 regulation of systemic arterial blood pressure by vasopressin IEA,IBA 21873635
GO:0002125 maternal aggressive behavior IEA --
GO:0003084 positive regulation of systemic arterial blood pressure IEA --
GO:0006091 generation of precursor metabolites and energy TAS 8106369
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with AVPR1A: view

Drugs & Compounds for AVPR1A Gene

(70) Drugs for AVPR1A Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atosiban Approved, Investigational Pharma Antagonist, Target, antagonist mixed antagonist of oxytocin and vasopressin receptors 16
Desmopressin Approved Pharma Agonist, Full agonist, Target, stimulator Hemostatic and anti-diuretic, Synthetic vasopressin analog; V1B and V2 agonist 0
Tolvaptan Approved Pharma Antagonist, Target, antagonist AVP V2-receptor antagonist 105
Conivaptan Approved, Investigational Pharma Antagonist, Target, antagonist 21
Vasopressin Approved Pharma Agonist, Full agonist, Partial agonist, Target, agonist 0

(12) Additional Compounds for AVPR1A Gene - From: HMDB, IUPHAR, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>3</sup>H]AVP
Agonist, Full agonist, Partial agonist
[<sup>3</sup>H]SR49059
Antagonist
[Phe<sup>2</sup>]OVT
Agonist, Full agonist
AVT
Agonist, Full agonist
OPC-31260
Antagonist, Inverse agonist, Inverse antagonist

(5) Tocris Compounds for AVPR1A Gene

Compound Action Cas Number
[Arg8]-Vasopressin Antidiuretic hormone 113-79-1
[Lys8]-Vasopressin Antidiuretic hormone 50-57-7
d[Cha4]-AVP Potent and selective human V1B agonist 500170-27-4
d[Leu4,Lys8]-VP Selective V1B agonist 42061-33-6
Desmopressin Synthetic vasopressin analog; V1B and V2 agonist 16679-58-6

(8) ApexBio Compounds for AVPR1A Gene

Compound Action Cas Number
Atosiban mixed antagonist of oxytocin and vasopressin receptors 90779-69-4
Conivaptan HCl 168626-94-6
d[Cha4]-AVP
d[Leu4,Lys8]-VP 42061-33-6
Mozavaptan 137975-06-5
OPC 21268 131631-89-5
SR 49059 150375-75-0
Tolvaptan AVP V2-receptor antagonist 150683-30-0
genes like me logo Genes that share compounds with AVPR1A: view

Drug Products

Transcripts for AVPR1A Gene

mRNA/cDNA for AVPR1A Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AVPR1A

Alternative Splicing Database (ASD) splice patterns (SP) for AVPR1A Gene

No ASD Table

Relevant External Links for AVPR1A Gene

GeneLoc Exon Structure for
AVPR1A

Expression for AVPR1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AVPR1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AVPR1A Gene

This gene is overexpressed in Artery - Tibial (x10.6), Adrenal Gland (x7.8), Liver (x5.7), and Adipose - Visceral (Omentum) (x5.1).

Protein differential expression in normal tissues from HIPED for AVPR1A Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AVPR1A Gene



Protein tissue co-expression partners for AVPR1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AVPR1A

SOURCE GeneReport for Unigene cluster for AVPR1A Gene:

Hs.2131

Evidence on tissue expression from TISSUES for AVPR1A Gene

  • Liver(4.4)
  • Lung(4.2)
  • Adrenal gland(2.8)
  • Nervous system(2.5)
  • Kidney(2.4)
  • Heart(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with AVPR1A: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AVPR1A Gene

Orthologs for AVPR1A Gene

This gene was present in the common ancestor of animals.

Orthologs for AVPR1A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AVPR1A 30 31
  • 98.96 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AVPR1A 30 31
  • 85.35 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AVPR1A 30 31
  • 84.53 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Avpr1a 30 17 31
  • 83.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Avpr1a 30
  • 82.93 (n)
Oppossum
(Monodelphis domestica)
Mammalia AVPR1A 31
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AVPR1A 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AVPR1A 30
  • 75.59 (n)
VT4 31
  • 69 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AVPR1A 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia avpr1a 30
  • 69.85 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC571591 30
  • 66.67 (n)
AVPR1A (2 of 2) 31
  • 63 (a)
OneToMany
avpr1b 31
  • 56 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta GRHR 32
  • 31 (a)
CG6111 32
  • 28 (a)
Worm
(Caenorhabditis elegans)
Secernentea F14F4.1 30
  • 43.8 (n)
T07D10.2 32
  • 29 (a)
Species where no ortholog for AVPR1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AVPR1A Gene

ENSEMBL:
Gene Tree for AVPR1A (if available)
TreeFam:
Gene Tree for AVPR1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AVPR1A: view image

Paralogs for AVPR1A Gene

(5) SIMAP similar genes for AVPR1A Gene using alignment to 2 proteins:

  • V1AR_HUMAN
  • F8VW98_HUMAN
genes like me logo Genes that share paralogs with AVPR1A: view

Variants for AVPR1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AVPR1A Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
701887 Benign: not provided 63,149,913(-) G/T MISSENSE_VARIANT
703692 Benign: not provided 63,150,084(-) C/G SYNONYMOUS_VARIANT
748773 Likely Benign: not provided 63,150,588(-) C/T SYNONYMOUS_VARIANT
rs2228154 - p.Gly6Ser

Additional dbSNP identifiers (rs#s) for AVPR1A Gene

Structural Variations from Database of Genomic Variants (DGV) for AVPR1A Gene

Variant ID Type Subtype PubMed ID
esv2761742 CNV loss 21179565
nsv1035231 CNV loss 25217958
nsv1046836 CNV gain 25217958
nsv469592 CNV loss 16826518
nsv832436 CNV gain 17160897

Variation tolerance for AVPR1A Gene

Residual Variation Intolerance Score: 60.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.02; 60.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AVPR1A Gene

Human Gene Mutation Database (HGMD)
AVPR1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AVPR1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AVPR1A Gene

Disorders for AVPR1A Gene

MalaCards: The human disease database

(13) MalaCards diseases for AVPR1A Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for AVPR1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with AVPR1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AVPR1A Gene

Publications for AVPR1A Gene

  1. Molecular cloning, sequencing, and functional expression of a cDNA encoding the human V1a vasopressin receptor. (PMID: 8106369) Thibonnier M … Clauser E (The Journal of biological chemistry 1994) 2 3 4 23
  2. Vasopressin V1a receptor polymorphism and interval walking training effects in middle-aged and older people. (PMID: 20142561) Masuki S … Shinshu University Genetic Research Consortium (Hypertension (Dallas, Tex. : 1979) 2010) 3 23 41
  3. Association between arginine vasopressin 1a receptor (AVPR1a) promoter region polymorphisms and prepulse inhibition. (PMID: 19195791) Levin R … Ebstein RP (Psychoneuroendocrinology 2009) 3 23 41
  4. Musical aptitude is associated with AVPR1A-haplotypes. (PMID: 19461995) Ukkola LT … Järvelä I (PloS one 2009) 3 23 41
  5. Combined effects of exonic polymorphisms in CRHR1 and AVPR1B genes in a case/control study for panic disorder. (PMID: 18384079) Keck ME … Binder EB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 23 41

Products for AVPR1A Gene

  • Signalway ELISA kits for AVPR1A
  • Signalway Proteins for AVPR1A

Sources for AVPR1A Gene