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AVP arginine vasopressin [ Homo sapiens (human) ]

Gene ID: 551, updated on 13-Jan-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 current GRCh38.p12 (GCF_000001405.38) 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Neurohypophyseal diabetes insipidus
MedGen: C0687720 OMIM: 125700 GeneReviews: Not available
not available

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 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 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
 
regulation of signaling receptor activity 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
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 IEA
Inferred from Electronic Annotation
more info
 
secretory granule IEA
Inferred from Electronic Annotation
more info
 

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_000490.4NP_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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 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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