| Name | Avp |
|---|---|
| Description | arginine vasopressin |
| Notes | AVP responses to hypotension in adipsic diabetes insipidus are heterogeneous and reflect the site of the lesion causing the diabetes insipidus AVP responses to hypotension in adipsic diabetes insipidus are heterogeneous and reflect the site of the lesion causing the diabetes insipidus. As a result of this mutation cysteine residue is exchanged, which is involved in disulfide bond with cysteine 44 of NPII moiety. Resulting misfolded protein may lead to chronic neurotoxicity by accumulation of these products in endoplasmatic reticulum. Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor. In the present study we found decreased vasopressin in several hypothalamic nuclei in vascular dementia indicating diminished production of certain hormones and neurotransmitters. Non-suppressible release of AVP is crucially involved in the impaired water excretion and hyponatremia seen in elderly patients with secondary adrenal insufficiency. This gene encodes a precursor protein consisting of arginine vasopressin and two associated proteins, neurophysin II and a glycopeptide, copeptin. Arginine vasopressin is a posterior pituitary hormone which is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin II, 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). Autosomal dominant neurohypophyseal diabetes insipidus associated with a novel and recurrent mutations in the vasopressin-neurophysin II gene. Demonstrated a novel mechanism for upstream stimulatory factor activation, which contributes to differential vasopressin expression in lung cancer. Identification of a missense mutation of the AVP-NPII gene and a novel mutation predicting a truncated protein in the gene in familial central diabetes insipidus. Novel mutation substituting cysteine with phenylalanine in one AVP-NPII gene allele in autosomal dominant neurohypophyseal diabetes insipidus. Wild-type vasopressin precursor and pathogenic mutants are degraded by the proteasome. |
| Owner | Public |
| URN | urn:agi-llid:551 |
| Connectivity | 1509 |
| KEGG pathway | Neuroactive ligand-receptor interaction |
|---|
| LocusLink ID | 551 |
|---|---|
| 11998 | |
| 24221 |
| OMIM ID | 192340 |
|---|---|
| 125700 |
| GO ID | 0031894 |
|---|---|
| 0031895 | |
| 0005185 | |
| 0031855 | |
| 0007267 | |
| 0030146 | |
| 0006091 | |
| 0050891 | |
| 0030819 | |
| 0006950 | |
| 0007165 | |
| 0042310 | |
| 0006833 | |
| 0005576 | |
| 0005625 | |
| 0005179 | |
| 0050880 | |
| 0005615 | |
| 0031896 | |
| 0005184 | |
| 0005515 | |
| 0006939 | |
| 0001659 | |
| 0005575 | |
| 0008217 |
| Hugo ID | 894 |
|---|
| Human chromosome position | 20p13 |
|---|
| Unigene ID | Hs.89648 |
|---|---|
| Mm.6190 | |
| Rn.9976 |
| KEGG ID | hsa:551 |
|---|---|
| mmu:11998 | |
| rno:24221 |
| Alias | VP |
|---|---|
| ADH | |
| ARVP | |
| AVRP | |
| AVP-NPII | |
| arginine vasopressin-neurophysin II | |
| vasopressin-neurophysin II-copeptin | |
| Vsp | |
| RP23-100C5.5 | |
| arginine vasopressin | |
| DI | |
| Vas | |
| preprovasopressin-neurophysin | |
| vasopressin-neurophysin prepropeptide | |
| arginine vasopressin (Diabetes insipidus), same as Di (conflicting physical mapping) | |
| arginine vasopressin-neurophysin II preproprotein | |
| neurophysin II | |
| diabetes insipidus, neurohypophyseal | |
| Vasopressin-neurophysin 2-copeptin precursor | |
| antidiuretic hormone | |
| AVP | |
| arginine vasopressin (Diabetes insipidus) same as Di (conflicting physical mapping) |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| Mouse chromosome position | 2 73.2 cM |
|---|
| Cell Localization | Extracellular |
|---|
| Homologene ID | 417 |
|---|
| Pathway | VasopressinR1 -> STAT signaling |
|---|---|
| VasopressinR1 -> MEF/MYOD/NFATC/MYOG signaling | |
| VasopressinR1 -> CREB/ELK-SRF/AP-1/EGR signaling | |
| VasopressinR2 -> STAT signaling | |
| VasopressinR2 -> MEF/MYOD/NFATC/MYOG signaling | |
| VasopressinR2 -> CREB/ELK-SRF/AP-1/EGR signaling | |
| vasopressin signaling pathway | |
| vasopressin signaling pathway via receptor type 2 | |
| vasopressin signaling pathway - first |
| MGI ID | 88121 |
|---|
| Ariadne Ontology | Neuromodulator |
|---|
| RGD ID | 2184 |
|---|
| GO Molecular Function | protein binding |
|---|---|
| hormone activity | |
| oxytocin receptor binding | |
| V1A vasopressin receptor binding | |
| V1B vasopressin receptor binding | |
| V2 vasopressin receptor binding | |
| neuropeptide hormone activity | |
| neurohypophyseal hormone activity |
| GO Cellular Component | cellular_component |
|---|---|
| extracellular region | |
| soluble fraction | |
| extracellular space |
| GO Biological Process | positive regulation of cAMP biosynthetic process |
|---|---|
| regulation of blood pressure | |
| temperature homeostasis | |
| multicellular organismal water homeostasis | |
| diuresis | |
| regulation of blood vessel size | |
| vasoconstriction | |
| cell-cell signaling | |
| signal transduction | |
| generation of precursor metabolites and energy | |
| water transport | |
| smooth muscle contraction | |
| response to stress |
| Group | cellular_component |
|---|---|
| extracellular region | |
| soluble fraction | |
| extracellular space | |
| protein binding | |
| hormone activity | |
| oxytocin receptor binding | |
| V1A vasopressin receptor binding | |
| V1B vasopressin receptor binding | |
| V2 vasopressin receptor binding | |
| neuropeptide hormone activity | |
| neurohypophyseal hormone activity | |
| positive regulation of cAMP biosynthetic process | |
| regulation of blood pressure | |
| temperature homeostasis | |
| multicellular organismal water homeostasis | |
| diuresis | |
| regulation of blood vessel size | |
| vasoconstriction | |
| cell-cell signaling | |
| signal transduction | |
| generation of precursor metabolites and energy | |
| water transport | |
| smooth muscle contraction | |
| response to stress | |
| Neuromodulator |
| Swiss-Prot Accession | P35455 |
|---|---|
| Q9UMM9 | |
| Q9UEW6 | |
| P01186 | |
| P01185 |