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Protein

Vasopressin-neurophysin 2-copeptin

Gene

AVP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Neurophysin 2 specifically binds vasopressin.
Vasopressin has a direct antidiuretic action on the kidney, it also causes vasoconstriction of the peripheral vessels. Acts by binding to vasopressin receptors (V1bR/AVPR1B, V1aR/AVPR1A, and V2R/AVPR2) (PubMed:18174156).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei28Important for agonist activity on V1aR/AVPR1A1 Publication1

GO - Molecular functioni

  • cysteine-type endopeptidase inhibitor activity involved in apoptotic process Source: UniProtKB
  • neurohypophyseal hormone activity Source: InterPro
  • neuropeptide hormone activity Source: ProtInc
  • protein kinase activity Source: UniProtKB
  • receptor binding Source: ProtInc
  • signal transducer activity Source: UniProtKB
  • V1A vasopressin receptor binding Source: UniProtKB
  • V1B vasopressin receptor binding Source: Ensembl

GO - Biological processi

Keywordsi

Molecular functionHormone, Vasoactive, Vasoconstrictor

Enzyme and pathway databases

ReactomeiR-HSA-1368108. BMAL1:CLOCK,NPAS2 activates circadian gene expression.
R-HSA-388479. Vasopressin-like receptors.
R-HSA-416476. G alpha (q) signalling events.
R-HSA-418555. G alpha (s) signalling events.
R-HSA-432040. Vasopressin regulates renal water homeostasis via Aquaporins.
R-HSA-5619099. Defective AVP causes neurohypophyseal diabetes insipidus (NDI).
R-HSA-879518. Transport of organic anions.
R-HSA-8856825. Cargo recognition for clathrin-mediated endocytosis.
R-HSA-8856828. Clathrin-mediated endocytosis.
SIGNORiP01185.

Names & Taxonomyi

Protein namesi
Recommended name:
Vasopressin-neurophysin 2-copeptin
Alternative name(s):
AVP-NPII
Cleaved into the following 3 chains:
Alternative name(s):
Arginine-vasopressin
Alternative name(s):
Neurophysin-II
Gene namesi
Name:AVP
Synonyms:ARVP, VP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000101200.5.
HGNCiHGNC:894. AVP.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Diabetes insipidus, neurohypophyseal (NDI)27 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by persistent thirst, polydipsia and polyuria. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood.
See also OMIM:125700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00498017S → F in NDI. 1 Publication1
Natural variantiVAR_00498119A → T in NDI; probably causes insufficient processing of precursor. 6 PublicationsCorresponds to variant dbSNP:rs387906511Ensembl.1
Natural variantiVAR_00498219A → V in NDI. 2 PublicationsCorresponds to variant dbSNP:rs387906512Ensembl.1
Natural variantiVAR_01526221Y → H in NDI. 1 PublicationCorresponds to variant dbSNP:rs121964893Ensembl.1
Natural variantiVAR_01526326P → L in NDI; weakly active. 1 PublicationCorresponds to variant dbSNP:rs142886338Ensembl.1
Natural variantiVAR_00498345G → R in NDI. 1 Publication1
Natural variantiVAR_00498448G → V in NDI. 1 PublicationCorresponds to variant dbSNP:rs121964883Ensembl.1
Natural variantiVAR_00498551R → C in NDI. 1 Publication1
Natural variantiVAR_01526452C → R in NDI. 1
Natural variantiVAR_01526554G → R in NDI. 3 PublicationsCorresponds to variant dbSNP:rs121964888Ensembl.1
Natural variantiVAR_01526654G → V in NDI. 1 PublicationCorresponds to variant dbSNP:rs121964887Ensembl.1
Natural variantiVAR_00498655P → L in NDI. 1 Publication1
Natural variantiVAR_02999758C → F in NDI. 1 Publication1
Natural variantiVAR_01526759C → R in NDI. 1
Natural variantiVAR_01526859C → Y in NDI. 1 Publication1
Natural variantiVAR_01927367V → A in NDI. 1 PublicationCorresponds to variant dbSNP:rs28934878Ensembl.1
Natural variantiVAR_00498878E → G in NDI. 2 Publications1
Natural variantiVAR_00498778Missing in NDI. 2 Publications1
Natural variantiVAR_00498981L → P in NDI. 1 Publication1
Natural variantiVAR_01526987S → F in NDI. 1 PublicationCorresponds to variant dbSNP:rs121964890Ensembl.1
Natural variantiVAR_00499088G → R in NDI. 1 Publication1
Natural variantiVAR_00499188G → S in NDI. 1 PublicationCorresponds to variant dbSNP:rs121964882Ensembl.1
Natural variantiVAR_00499292C → S in NDI. 2 Publications1
Natural variantiVAR_01527092C → Y in NDI. 2 PublicationsCorresponds to variant dbSNP:rs121964891Ensembl.1
Natural variantiVAR_00499393G → W in NDI. 1 PublicationCorresponds to variant dbSNP:rs121964885Ensembl.1
Natural variantiVAR_00499496G → C in NDI. 2 Publications1
Natural variantiVAR_01927496G → D in NDI. 1 Publication1
Natural variantiVAR_01527196G → V in NDI. Corresponds to variant dbSNP:rs121964886Ensembl.1
Natural variantiVAR_01527297R → C in NDI. 1
Natural variantiVAR_01527397R → P in NDI. 1 Publication1
Natural variantiVAR_01527498C → G in NDI. 1 Publication1
Natural variantiVAR_02999898C → S in NDI. 1 Publication1
Natural variantiVAR_02999999A → P in NDI. 1 Publication1
Natural variantiVAR_015275104C → F in NDI. 1 Publication1
Natural variantiVAR_019275104C → G in NDI. 1 Publication1
Natural variantiVAR_015276105C → R in NDI. 1 Publication1
Natural variantiVAR_015279105C → Y in NDI. 1 Publication1
Natural variantiVAR_015277116C → G in NDI; strong accumulation in the endoplasmic reticulum and an altered morphology of this organelle. 2 PublicationsCorresponds to variant dbSNP:rs74315383Ensembl.1
Natural variantiVAR_015278116C → R in NDI. 1 Publication1
Natural variantiVAR_019276116C → W in NDI. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi28G → V: Gain of antagonist activity on V1aR/AVPR1A (and loss of agonist activity on this receptor). 42-fold decrease in affinity for V1aR/AVPR1A, 2000-fold decrease in affinity for V1bR/AVPR1B, 5-fold decrease in affinity for V2R/AVPR2 and no change in affinity for oxytocin receptor (OXTR). 1 Publication1

Keywords - Diseasei

Diabetes insipidus, Disease mutation

Organism-specific databases

DisGeNETi551.
MalaCardsiAVP.
MIMi125700. phenotype.
OpenTargetsiENSG00000101200.
Orphaneti30925. Hereditary central diabetes insipidus.
PharmGKBiPA25186.

Polymorphism and mutation databases

BioMutaiAVP.
DMDMi128083.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 191 PublicationAdd BLAST19
PeptideiPRO_000002051520 – 28Arg-vasopressin1 Publication9
ChainiPRO_000002051632 – 124Neurophysin 21 PublicationAdd BLAST93
PeptideiPRO_0000020517126 – 164Copeptin1 PublicationAdd BLAST39

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi20 ↔ 25
Modified residuei28Glycine amide1 Publication1
Disulfide bondi41 ↔ 85By similarity
Disulfide bondi44 ↔ 58By similarity
Disulfide bondi52 ↔ 75By similarity
Disulfide bondi59 ↔ 65By similarity
Disulfide bondi92 ↔ 104By similarity
Disulfide bondi98 ↔ 116By similarity
Disulfide bondi105 ↔ 110By similarity
Glycosylationi131N-linked (GlcNAc...) asparagine1

Keywords - PTMi

Amidation, Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP01185.
PeptideAtlasiP01185.
PRIDEiP01185.

PTM databases

iPTMnetiP01185.
PhosphoSitePlusiP01185.

Miscellaneous databases

PMAP-CutDBiP01185.

Expressioni

Gene expression databases

BgeeiENSG00000101200.
CleanExiHS_AVP.
ExpressionAtlasiP01185. baseline and differential.
GenevisibleiP01185. HS.

Interactioni

Subunit structurei

Interacts with vasopressin receptors V1bR/AVPR1B (Ki=85 pM), V1aR/AVPR1A (Ki=0.6 nM) and V2R/AVPR2 (Ki=4.9 nM) (PubMed:18174156). Interacts with oxytocin receptor (OXTR) (Ki=110 nM) (PubMed:18174156).1 Publication

GO - Molecular functioni

  • neurohypophyseal hormone activity Source: InterPro
  • neuropeptide hormone activity Source: ProtInc
  • receptor binding Source: ProtInc
  • V1A vasopressin receptor binding Source: UniProtKB
  • V1B vasopressin receptor binding Source: Ensembl

Protein-protein interaction databases

BioGridi107032. 24 interactors.
IntActiP01185. 2 interactors.
STRINGi9606.ENSP00000369647.

Structurei

3D structure databases

ProteinModelPortaliP01185.
SMRiP01185.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the vasopressin/oxytocin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IXM5. Eukaryota.
ENOG4111S8B. LUCA.
GeneTreeiENSGT00390000004511.
HOGENOMiHOG000113768.
HOVERGENiHBG004462.
InParanoidiP01185.
KOiK05242.
OMAiSGLCCNS.
OrthoDBiEOG091G0V8Z.
PhylomeDBiP01185.
TreeFamiTF333018.

Family and domain databases

Gene3Di2.60.9.10. 1 hit.
InterProiView protein in InterPro
IPR000981. Neurhyp_horm.
IPR036387. Neurhyp_horm_dom_sf.
IPR022423. Neurohypophysial_hormone_CS.
PANTHERiPTHR11681. PTHR11681. 1 hit.
PfamiView protein in Pfam
PF00220. Hormone_4. 1 hit.
PF00184. Hormone_5. 1 hit.
PIRSFiPIRSF001815. Nonapeptide_hormone_precursor. 1 hit.
PRINTSiPR00831. NEUROPHYSIN.
ProDomiView protein in ProDom or Entries sharing at least one domain
PD001676. Neurhyp_horm. 1 hit.
SMARTiView protein in SMART
SM00003. NH. 1 hit.
SUPFAMiSSF49606. SSF49606. 1 hit.
PROSITEiView protein in PROSITE
PS00264. NEUROHYPOPHYS_HORM. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P01185-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPDTMLPACF LGLLAFSSAC YFQNCPRGGK RAMSDLELRQ CLPCGPGGKG
60 70 80 90 100
RCFGPSICCA DELGCFVGTA EALRCQEENY LPSPCQSGQK ACGSGGRCAA
110 120 130 140 150
FGVCCNDESC VTEPECREGF HRRARASDRS NATQLDGPAG ALLLRLVQLA
160
GAPEPFEPAQ PDAY
Length:164
Mass (Da):17,325
Last modified:August 1, 1992 - v2
Checksum:i8F5EF9834700B9AE
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti11L → P in AAA98772 (PubMed:2991279).Curated1
Sequence conflicti48G → D in AAB86629 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00498017S → F in NDI. 1 Publication1
Natural variantiVAR_00498119A → T in NDI; probably causes insufficient processing of precursor. 6 PublicationsCorresponds to variant dbSNP:rs387906511Ensembl.1
Natural variantiVAR_00498219A → V in NDI. 2 PublicationsCorresponds to variant dbSNP:rs387906512Ensembl.1
Natural variantiVAR_01526221Y → H in NDI. 1 PublicationCorresponds to variant dbSNP:rs121964893Ensembl.1
Natural variantiVAR_01526326P → L in NDI; weakly active. 1 PublicationCorresponds to variant dbSNP:rs142886338Ensembl.1
Natural variantiVAR_00498345G → R in NDI. 1 Publication1
Natural variantiVAR_00498448G → V in NDI. 1 PublicationCorresponds to variant dbSNP:rs121964883Ensembl.1
Natural variantiVAR_00498551R → C in NDI. 1 Publication1
Natural variantiVAR_01526452C → R in NDI. 1
Natural variantiVAR_01526554G → R in NDI. 3 PublicationsCorresponds to variant dbSNP:rs121964888Ensembl.1
Natural variantiVAR_01526654G → V in NDI. 1 PublicationCorresponds to variant dbSNP:rs121964887Ensembl.1
Natural variantiVAR_00498655P → L in NDI. 1 Publication1
Natural variantiVAR_02999758C → F in NDI. 1 Publication1
Natural variantiVAR_01526759C → R in NDI. 1
Natural variantiVAR_01526859C → Y in NDI. 1 Publication1
Natural variantiVAR_01927367V → A in NDI. 1 PublicationCorresponds to variant dbSNP:rs28934878Ensembl.1
Natural variantiVAR_00498878E → G in NDI. 2 Publications1
Natural variantiVAR_00498778Missing in NDI. 2 Publications1
Natural variantiVAR_00498981L → P in NDI. 1 Publication1
Natural variantiVAR_01189482P → L. Corresponds to variant dbSNP:rs5195Ensembl.1
Natural variantiVAR_01526987S → F in NDI. 1 PublicationCorresponds to variant dbSNP:rs121964890Ensembl.1
Natural variantiVAR_00499088G → R in NDI. 1 Publication1
Natural variantiVAR_00499188G → S in NDI. 1 PublicationCorresponds to variant dbSNP:rs121964882Ensembl.1
Natural variantiVAR_00499292C → S in NDI. 2 Publications1
Natural variantiVAR_01527092C → Y in NDI. 2 PublicationsCorresponds to variant dbSNP:rs121964891Ensembl.1
Natural variantiVAR_00499393G → W in NDI. 1 PublicationCorresponds to variant dbSNP:rs121964885Ensembl.1
Natural variantiVAR_00499496G → C in NDI. 2 Publications1
Natural variantiVAR_01927496G → D in NDI. 1 Publication1
Natural variantiVAR_01527196G → V in NDI. Corresponds to variant dbSNP:rs121964886Ensembl.1
Natural variantiVAR_01527297R → C in NDI. 1
Natural variantiVAR_01527397R → P in NDI. 1 Publication1
Natural variantiVAR_01527498C → G in NDI. 1 Publication1
Natural variantiVAR_02999898C → S in NDI. 1 Publication1
Natural variantiVAR_02999999A → P in NDI. 1 Publication1
Natural variantiVAR_015275104C → F in NDI. 1 Publication1
Natural variantiVAR_019275104C → G in NDI. 1 Publication1
Natural variantiVAR_015276105C → R in NDI. 1 Publication1
Natural variantiVAR_015279105C → Y in NDI. 1 Publication1
Natural variantiVAR_015277116C → G in NDI; strong accumulation in the endoplasmic reticulum and an altered morphology of this organelle. 2 PublicationsCorresponds to variant dbSNP:rs74315383Ensembl.1
Natural variantiVAR_015278116C → R in NDI. 1 Publication1
Natural variantiVAR_019276116C → W in NDI. 1 Publication1
Natural variantiVAR_011895119G → V1 PublicationCorresponds to variant dbSNP:rs1051744Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M11166 Genomic DNA. Translation: AAA98772.1.
M25647 mRNA. Translation: AAA61291.1.
X03172 mRNA. Translation: CAA26935.1.
X62890 Genomic DNA. Translation: CAA44681.1.
AF031476 mRNA. Translation: AAB86629.1.
AL160414 Genomic DNA. No translation available.
X62891 Genomic DNA. Translation: CAA44682.1.
BC126196 mRNA. Translation: AAI26197.1.
BC126224 mRNA. Translation: AAI26225.1.
CCDSiCCDS13045.1.
PIRiA39269.
B94676. NVHU2.
RefSeqiNP_000481.2. NM_000490.4.
XP_011527569.1. XM_011529267.1.
UniGeneiHs.89648.

Genome annotation databases

EnsembliENST00000380293; ENSP00000369647; ENSG00000101200.
GeneIDi551.
KEGGihsa:551.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNEU2_HUMAN
AccessioniPrimary (citable) accession number: P01185
Secondary accession number(s): A0AV35, O14935
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: August 1, 1992
Last modified: November 22, 2017
This is version 188 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families