AVP Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | AVP |
| Official Name | arginine vasopressin [Source:HGNC Symbol;Acc:HGNC:894] |
| Ensembl ID | ENSG00000101200 |
| Bio databases IDs | |
| Aliases | arginine vasopressin, antidiuretic hormone, neurophysin II, diabetes insipidus, neurohypophyseal, prepro-AVP-NP II, prepro-arginine-vasopressin-neurophysin II, copeptin |
| Synonyms | ADH, ARG8 VASOPRESSIN, arginine vasopressin, ARVP, AVP-NPII, AVRP, DI, NEUROPHYSIN II, prepro-argenine vasopressin-neurophysin 2-copeptin, Vas, VP, Vsp |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AVP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Neurohypophysial hormones, C-terminal Domain
- G-protein-coupled receptor binding
- caspase inhibitor activity
- signal peptide
- neurophysin domain
- protein binding
- receptor binding
- neuropeptide hormone
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertension
- proteinuria
- neurohypophyseal diabetes insipidus
- major depression
- community acquired pneumonia
- bradycardia
- glomerular endotheliosis
- septic shock
- catalepsy
- diabetes insipidus
role in cell
- apoptosis
- expression in
- production in
- proliferation
- phosphorylation in
- activation in
- cell viability
- accumulation in
- cell cycle progression
- activation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- plasma membrane fraction
- membrane fraction
- endocytic vesicle membrane
- cell surface
- Extracellular Space
- cellular membrane
- Nucleus
- granules
- cytosol
- plasma membrane projections
- neurites
- nerve ending
- dense-core vesicles
- cytoplasmic vesicles
- secretory granules
- perikaryon
- axons
- dendrites
- axon terminals
- plasma
- Herring bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AVP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- viral entry into host cell
- protein kinase C signaling cascade
- positive regulation of vasoconstriction
- positive regulation of cell proliferation
- vasoconstriction
- maternal behavior
- response to ethanol
- water transport
- positive regulation of cell growth
- grooming behavior
- locomotory behavior
- multicellular organismal water homeostasis
- positive regulation of cellular pH reduction
- negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
- response to testosterone stimulus
- positive regulation of peptidyl-serine phosphorylation
- social behavior
- generation of precursor metabolites and energy
- positive regulation of prostaglandin biosynthetic process
- negative regulation of release of cytochrome c from mitochondria
- signal transduction
- positive regulation of systemic arterial blood pressure
- cell-cell signaling
- response to nicotine
- negative regulation of female receptivity
- elevation of cytosolic calcium ion concentration
- ERK1 and ERK2 cascade
- maternal aggressive behavior
- negative regulation of transmission of nerve impulse
- positive regulation of gene expression
- negative regulation of apoptotic process
- positive regulation of glutamate secretion
Cellular Component
Where in the cell the gene product is active
- dendrite
- extracellular space
- clathrin-coated endocytic vesicle membrane
- secretory granule
- cytosol
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- neurohypophyseal hormone activity
- neuropeptide hormone activity
- V1A vasopressin receptor binding
- protein kinase activity
- receptor binding
- cysteine-type endopeptidase inhibitor activity involved in apoptotic process
- V1B vasopressin receptor binding