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    AVP arginine vasopressin [ Homo sapiens (human) ]

    Gene ID: 551, updated on 10-Dec-2019

    Summary

    Official Symbol
    AVPprovided by HGNC
    Official Full Name
    arginine vasopressinprovided by HGNC
    Primary source
    HGNC:HGNC:894
    See related
    Ensembl:ENSG00000101200 MIM:192340
    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
    VP; ADH; ARVP; AVRP; AVP-NPII
    Summary
    This gene encodes a member of the vasopressin/oxytocin family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the neuropeptide hormone arginine vasopressin, and two other peptides, neurophysin 2 and copeptin. Arginine vasopressin is a posterior pituitary hormone that is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). This gene is present in a gene cluster with the related gene oxytocin on chromosome 20. [provided by RefSeq, Nov 2015]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See AVP in Genome Data Viewer
    Location:
    20p13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (3082556..3093521, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (3063202..3065370, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein S26 Neighboring gene uncharacterized LOC101929098 Neighboring gene oxytocin/neurophysin I prepropeptide Neighboring gene RNA, 7SL, cytoplasmic 555, pseudogene Neighboring gene UBOX5 antisense RNA 1 Neighboring gene U-box domain containing 5 Neighboring gene FAST kinase domains 5

    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
    Neurohypophyseal diabetes insipidus
    MedGen: C0687720 OMIM: 125700 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Aquaporin-mediated transport, organism-specific biosystem (from REACTOME)
      Aquaporin-mediated transport, organism-specific biosystemAquaporins (AQP's) are six-pass transmembrane proteins that form channels in membranes. Each monomer contains a central channel formed in part by two asparagine-proline-alanine motifs (NPA boxes) tha...
    • BMAL1:CLOCK,NPAS2 activates circadian gene expression, organism-specific biosystem (from REACTOME)
      BMAL1:CLOCK,NPAS2 activates circadian gene expression, organism-specific biosystemAs inferred from mouse, BMAL1:CLOCK (ARNTL:CLOCK) and BMAL1:NPAS2 (ARNTL:NPAS2) heterodimers bind to sequence elements (E boxes) in the promoters of target genes and enhance transcription (Gekakis et...
    • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
      Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
    • Circadian Clock, organism-specific biosystem (from REACTOME)
      Circadian Clock, organism-specific biosystemAt the center of the mammalian circadian clock is a negative transcription/translation-based feedback loop: The BMAL1:CLOCK/NPAS2 (ARNTL:CLOCK/NPAS2) heterodimer transactivates CRY and PER genes by b...
    • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
      Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
    • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
      Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
    • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
      Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
    • Defective AVP causes neurohypophyseal diabetes insipidus (NDI), organism-specific biosystem (from REACTOME)
      Defective AVP causes neurohypophyseal diabetes insipidus (NDI), organism-specific biosystemArginine vasopressin (AVP(20-28)) is a 9 amino-acid long signal peptide produced by cleavage of the precursor protein AVP in the hypothalamus. It mediates the reabsorption of water in the kidney and ...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Disorders of transmembrane transporters, organism-specific biosystem (from REACTOME)
      Disorders of transmembrane transporters, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP hydrolysis-coupled pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to ...
    • G alpha (q) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (q) signalling events, organism-specific biosystemThe classic signalling route for G alpha (q) is activation of phospholipase C beta thereby triggering phosphoinositide hydrolysis, calcium mobilization and protein kinase C activation. This provides ...
    • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
      Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
      Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
    • Phospholipase D signaling pathway, organism-specific biosystem (from KEGG)
      Phospholipase D signaling pathway, organism-specific biosystemPhospholipase D (PLD) is an essential enzyme responsible for the production of the lipid second messenger phosphatidic acid (PA), which is involved in fundamental cellular processes, including membra...
    • Phospholipase D signaling pathway, conserved biosystem (from KEGG)
      Phospholipase D signaling pathway, conserved biosystemPhospholipase D (PLD) is an essential enzyme responsible for the production of the lipid second messenger phosphatidic acid (PA), which is involved in fundamental cellular processes, including membra...
    • SLC transporter disorders, organism-specific biosystem (from REACTOME)
      SLC transporter disorders, organism-specific biosystemThe solute-carrier gene (SLC) superfamily encodes membrane-bound transporters comprising 55 gene families with at least 362 putatively functional protein-coding genes. The gene products include passi...
    • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
      SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Transport of organic anions, organism-specific biosystem (from REACTOME)
      Transport of organic anions, organism-specific biosystemOrganic anion transporting polypeptides (OATPs) are membrane transport proteins that mediate the sodium-independent transport of a wide range of amphipathic organic compounds including bile salts, st...
    • Transport of vitamins, nucleosides, and related molecules, organism-specific biosystem (from REACTOME)
      Transport of vitamins, nucleosides, and related molecules, organism-specific biosystemThis pathway groups the processes mediated by SLC transporters, by which vitamins and cofactors, as well as nucleosides, nucleotides, nucleobases, and related molecules cross lipid bilayer membranes.
    • Vasopressin regulates renal water homeostasis via Aquaporins, organism-specific biosystem (from REACTOME)
      Vasopressin regulates renal water homeostasis via Aquaporins, organism-specific biosystemIn the kidney water and solutes are passed out of the bloodstream and into the proximal tubule via the slit-like structure formed by nephrin in the glomerulus. Water is reabsorbed from the filtrate d...
    • Vasopressin-like receptors, organism-specific biosystem (from REACTOME)
      Vasopressin-like receptors, organism-specific biosystemThe vasopressins are peptide hormones consisting of nine amino acids (nonapeptides). They include arginine vasopressin (AVP; anti-diuretic hormone, ADH) and oxytocin. They are synthesized in the hypo...
    • Vasopressin-regulated water reabsorption, organism-specific biosystem (from KEGG)
      Vasopressin-regulated water reabsorption, organism-specific biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
    • Vasopressin-regulated water reabsorption, conserved biosystem (from KEGG)
      Vasopressin-regulated water reabsorption, conserved biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    V1A vasopressin receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    V1A vasopressin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    V1B vasopressin receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    cysteine-type endopeptidase inhibitor activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neurohypophyseal hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    neuropeptide hormone activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neuropeptide hormone activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signaling receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    generation of precursor metabolites and energy TAS
    Traceable Author Statement
    more info
    PubMed 
    grooming behavior IEA
    Inferred from Electronic Annotation
    more info
     
    hyperosmotic salinity response IEA
    Inferred from Electronic Annotation
    more info
     
    locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    maternal aggressive behavior IEA
    Inferred from Electronic Annotation
    more info
     
    maternal behavior IEA
    Inferred from Electronic Annotation
    more info
     
    membrane organization TAS
    Traceable Author Statement
    more info
     
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of female receptivity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of release of cytochrome c from mitochondria IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transmission of nerve impulse IEA
    Inferred from Electronic Annotation
    more info
     
    penile erection IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cellular pH reduction IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of glutamate secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of prostaglandin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of systemic arterial blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of vasoconstriction IEA
    Inferred from Electronic Annotation
    more info
     
    protein kinase C signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of renal sodium excretion IEA
    Inferred from Electronic Annotation
    more info
     
    renal water homeostasis TAS
    Traceable Author Statement
    more info
     
    response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    response to nicotine IEA
    Inferred from Electronic Annotation
    more info
     
    response to testosterone IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    social behavior IEA
    Inferred from Electronic Annotation
    more info
     
    vasoconstriction IEA
    Inferred from Electronic Annotation
    more info
     
    water transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell IEA
    Inferred from Electronic Annotation
    more info
     
    clathrin-coated vesicle membrane TAS
    Traceable Author Statement
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    secretory granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    vasopressin-neurophysin 2-copeptin
    Names
    antidiuretic hormone
    copeptin
    neurohypophyseal
    prepro-AVP-NP II
    prepro-arginine-vasopressin-neurophysin II
    vasopressin-neurophysin II-copeptin

    NCBI Reference Sequences (RefSeq)

    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_008663.1 RefSeqGene

      Range
      5001..7169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_715

    mRNA and Protein(s)

    1. NM_000490.5NP_000481.2  vasopressin-neurophysin 2-copeptin preproprotein

      See identical proteins and their annotated locations for NP_000481.2

      Status: REVIEWED

      Source sequence(s)
      BC126196, BG715518
      Consensus CDS
      CCDS13045.1
      UniProtKB/Swiss-Prot
      P01185
      UniProtKB/TrEMBL
      X5DQP6
      Related
      ENSP00000369647.3, ENST00000380293.3
      Conserved Domains (1) summary
      smart00003
      Location:39116
      NH; Neurohypophysial hormones

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

      Range
      3082556..3093521 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529267.2XP_011527569.1  vasopressin-neurophysin 2-copeptin isoform X1

      See identical proteins and their annotated locations for XP_011527569.1

      UniProtKB/Swiss-Prot
      P01185
      UniProtKB/TrEMBL
      X5DQP6
      Conserved Domains (1) summary
      smart00003
      Location:39116
      NH; Neurohypophysial hormones
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