AVP
Vasopressin-neurophysin 2-copeptin
Also known as: ADH, ARVP, NEU2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P01185
- Gene
- AVP
- Ensembl
- ENSG00000101200
- Chromosome
- 20
- Canonical length
- 164 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted secreted proteins
- Secretome location
- Secreted to blood
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
164 residues, UniProt reviewed canonical sequence.
>P01185|AVP
1 MPDTMLPACF LGLLAFSSAC YFQNCPRGGK RAMSDLELRQ CLPCGPGGKG RCFGPSICCA
61 DELGCFVGTA EALRCQEENY LPSPCQSGQK ACGSGGRCAA FGVCCNDESC VTEPECREGF
121 HRRARASDRS NATQLDGPAG ALLLRLVQLA GAPEPFEPAQ PDAYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against AVP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.46
- Highest tissue expression
- 4,348 nTPM
Expression across tissuesHPA
Tissue
- hypothalamus: 4,348 nTPM
- midbrain: 13 nTPM
- pituitary gland: 5.8 nTPM
- hippocampal formation: 2.6 nTPM
- basal ganglia: 1.7 nTPM
- skin: 1.5 nTPM
Single-cell type
- other brain neurons: 757 nCPM
- hematopoietic stem cells: 613 nCPM
- thymocytes: 129 nCPM
- late spermatids: 46 nCPM
- oocytes: 14 nCPM
- epididymal efferent duct absorptive cells: 11 nCPM
Immune cell
- eosinophil: 2.8 nTPM
- T-reg: 0.5 nTPM
- naive CD4 T-cell: 0.1 nTPM
- naive CD8 T-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
Brain region
- hypothalamus: 15,977 nTPM
- cerebral cortex: 210 nTPM
- basal ganglia: 50 nTPM
- amygdala: 17 nTPM
- cerebellum: 2.9 nTPM
- hippocampal formation: 2.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about AVP.
Disease | AllUniProt
Conditions AVP is implicated in, by any mechanism.
- Diabetes insipidus, neurohypophyseal (NDI) MIM:125700
Disease | GeneticClinVar
36 pathogenic / likely-pathogenic of 152 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurohypophyseal diabetes insipidus
- AVP-related disorder
- Diabetes insipidus, neurohypophyseal, autosomal recessive
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.45
- gnomAD pLI
- 0.07
- gnomAD missense Z
- 1.05
- DepMap mean gene effect
- -0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell-cell signaling
- generation of precursor metabolites and energy
- grooming behavior
- intracellular signal transduction
- locomotory behavior
- maternal aggressive behavior
- maternal behavior
- multicellular organismal response to stress
- negative regulation of apoptotic process
- negative regulation of female receptivity
- negative regulation of transmission of nerve impulse
- positive regulation of cell growth
- positive regulation of cell population proliferation
- positive regulation of cellular pH reduction
- positive regulation of cytosolic calcium ion concentration
- positive regulation of gene expression
- positive regulation of glutamate secretion
- positive regulation of prostaglandin biosynthetic process
- positive regulation of systemic arterial blood pressure
- positive regulation of vasoconstriction
- renal water absorption
- response to 2,3,7,8-tetrachlorodibenzodioxine
- response to electrical stimulus
- response to ethanol
- response to nerve growth factor
- response to nicotine
- response to peptide
- response to salt stress
- response to testosterone
- response to xenobiotic stimulus
- signal transduction
- social behavior
- symbiont entry into host cell
- vasoconstriction
- water transport
Molecular functions
- hormone activity
- neurohypophyseal hormone activity
- neuropeptide hormone activity
- protein kinase activity
- signaling receptor binding
- V1A vasopressin receptor binding
- V1B vasopressin receptor binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads AVP as an antibody target. Whether an autoantibody or antibody against AVP could matter depends on whether native AVP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
AVP is annotated as secreted, so native AVP circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label AVP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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