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P01185

- NEU2_HUMAN

UniProt

P01185 - NEU2_HUMAN

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Protein

Vasopressin-neurophysin 2-copeptin

Gene

AVP

Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

  1. cysteine-type endopeptidase inhibitor activity involved in apoptotic process Source: UniProtKB
  2. neuropeptide hormone activity Source: ProtInc
  3. protein kinase activity Source: UniProtKB
  4. receptor binding Source: ProtInc
  5. signal transducer activity Source: UniProtKB
  6. V1A vasopressin receptor binding Source: UniProtKB

GO - Biological processi

  1. cell-cell signaling Source: ProtInc
  2. ERK1 and ERK2 cascade Source: UniProtKB
  3. generation of precursor metabolites and energy Source: ProtInc
  4. grooming behavior Source: Ensembl
  5. hyperosmotic salinity response Source: Ensembl
  6. locomotory behavior Source: Ensembl
  7. maternal aggressive behavior Source: Ensembl
  8. maternal behavior Source: Ensembl
  9. multicellular organismal water homeostasis Source: Ensembl
  10. negative regulation of apoptotic process Source: UniProtKB
  11. negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
  12. negative regulation of female receptivity Source: Ensembl
  13. negative regulation of release of cytochrome c from mitochondria Source: UniProtKB
  14. negative regulation of transmission of nerve impulse Source: Ensembl
  15. penile erection Source: Ensembl
  16. positive regulation of cAMP biosynthetic process Source: Ensembl
  17. positive regulation of cell growth Source: Ensembl
  18. positive regulation of cell proliferation Source: Ensembl
  19. positive regulation of cellular pH reduction Source: Ensembl
  20. positive regulation of cytosolic calcium ion concentration Source: Ensembl
  21. positive regulation of gene expression Source: UniProtKB
  22. positive regulation of glutamate secretion Source: Ensembl
  23. positive regulation of peptidyl-serine phosphorylation Source: UniProtKB
  24. positive regulation of prostaglandin biosynthetic process Source: Ensembl
  25. positive regulation of systemic arterial blood pressure Source: Ensembl
  26. positive regulation of vasoconstriction Source: Ensembl
  27. protein kinase C signaling Source: UniProtKB
  28. protein phosphorylation Source: GOC
  29. regulation of renal sodium excretion Source: Ensembl
  30. response to ethanol Source: Ensembl
  31. response to nicotine Source: Ensembl
  32. response to testosterone Source: Ensembl
  33. signal transduction Source: UniProtKB
  34. social behavior Source: Ensembl
  35. sodium-independent organic anion transport Source: Reactome
  36. transmembrane transport Source: Reactome
  37. vasoconstriction Source: UniProtKB-KW
  38. water transport Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Hormone, Vasoactive, Vasoconstrictor

Enzyme and pathway databases

ReactomeiREACT_111118. BMAL1:CLOCK,NPAS2 activates circadian gene expression.
REACT_17041. Vasopressin-like receptors.
REACT_18283. G alpha (q) signalling events.
REACT_19327. G alpha (s) signalling events.
REACT_23988. Transport of organic anions.
REACT_24023. Vasopressin regulates renal water homeostasis via Aquaporins.

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
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:894. AVP.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. dendrite Source: Ensembl
  3. extracellular region Source: Reactome
  4. extracellular space Source: Ensembl
  5. secretory granule Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]: A disease characterized by persistent thirst, polydipsia and polyuria. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood.27 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171S → F in NDI. 1 Publication
VAR_004980
Natural varianti19 – 191A → T in NDI; probably causes insufficient processing of precursor. 6 Publications
VAR_004981
Natural varianti19 – 191A → V in NDI. 2 Publications
VAR_004982
Natural varianti21 – 211Y → H in NDI. 1 Publication
VAR_015262
Natural varianti26 – 261P → L in NDI; weakly active. 1 Publication
VAR_015263
Natural varianti45 – 451G → R in NDI. 1 Publication
VAR_004983
Natural varianti48 – 481G → V in NDI. 1 Publication
VAR_004984
Natural varianti51 – 511R → C in NDI. 1 Publication
VAR_004985
Natural varianti52 – 521C → R in NDI.
VAR_015264
Natural varianti54 – 541G → R in NDI. 3 Publications
VAR_015265
Natural varianti54 – 541G → V in NDI. 1 Publication
VAR_015266
Natural varianti55 – 551P → L in NDI. 1 Publication
VAR_004986
Natural varianti58 – 581C → F in NDI. 1 Publication
VAR_029997
Natural varianti59 – 591C → R in NDI.
VAR_015267
Natural varianti59 – 591C → Y in NDI. 1 Publication
VAR_015268
Natural varianti67 – 671V → A in NDI. 1 Publication
Corresponds to variant rs28934878 [ dbSNP | Ensembl ].
VAR_019273
Natural varianti78 – 781E → G in NDI. 2 Publications
VAR_004988
Natural varianti78 – 781Missing in NDI. 2 Publications
VAR_004987
Natural varianti81 – 811L → P in NDI. 1 Publication
VAR_004989
Natural varianti87 – 871S → F in NDI. 1 Publication
VAR_015269
Natural varianti88 – 881G → R in NDI. 1 Publication
VAR_004990
Natural varianti88 – 881G → S in NDI. 1 Publication
VAR_004991
Natural varianti92 – 921C → S in NDI. 2 Publications
VAR_004992
Natural varianti92 – 921C → Y in NDI. 2 Publications
VAR_015270
Natural varianti93 – 931G → W in NDI. 1 Publication
VAR_004993
Natural varianti96 – 961G → C in NDI. 2 Publications
VAR_004994
Natural varianti96 – 961G → D in NDI. 1 Publication
VAR_019274
Natural varianti96 – 961G → V in NDI.
VAR_015271
Natural varianti97 – 971R → C in NDI.
VAR_015272
Natural varianti97 – 971R → P in NDI. 1 Publication
VAR_015273
Natural varianti98 – 981C → G in NDI. 1 Publication
VAR_015274
Natural varianti98 – 981C → S in NDI. 1 Publication
VAR_029998
Natural varianti99 – 991A → P in NDI. 1 Publication
VAR_029999
Natural varianti104 – 1041C → F in NDI. 1 Publication
VAR_015275
Natural varianti104 – 1041C → G in NDI. 1 Publication
VAR_019275
Natural varianti105 – 1051C → R in NDI. 1 Publication
VAR_015276
Natural varianti105 – 1051C → Y in NDI. 1 Publication
VAR_015279
Natural varianti116 – 1161C → G in NDI; strong accumulation in the endoplasmic reticulum and an altered morphology of this organelle. 2 Publications
VAR_015277
Natural varianti116 – 1161C → R in NDI. 1 Publication
VAR_015278
Natural varianti116 – 1161C → W in NDI. 1 Publication
VAR_019276

Keywords - Diseasei

Diabetes insipidus, Disease mutation

Organism-specific databases

MIMi125700. phenotype.
Orphaneti30925. Hereditary central diabetes insipidus.
PharmGKBiPA25186.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 19191 PublicationAdd
BLAST
Peptidei20 – 289Arg-vasopressinPRO_0000020515
Chaini32 – 12493Neurophysin 2PRO_0000020516Add
BLAST
Peptidei126 – 16439CopeptinPRO_0000020517Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi20 ↔ 251 Publication
Modified residuei28 – 281Glycine amide1 Publication
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
Glycosylationi131 – 1311N-linked (GlcNAc...)

Keywords - PTMi

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

Proteomic databases

PaxDbiP01185.
PRIDEiP01185.

Miscellaneous databases

PMAP-CutDBP01185.

Expressioni

Gene expression databases

BgeeiP01185.
CleanExiHS_AVP.
ExpressionAtlasiP01185. baseline.
GenevestigatoriP01185.

Interactioni

Protein-protein interaction databases

BioGridi107032. 6 interactions.
IntActiP01185. 1 interaction.
STRINGi9606.ENSP00000369647.

Structurei

3D structure databases

ProteinModelPortaliP01185.
SMRiP01185. Positions 32-116.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the vasopressin/oxytocin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG44533.
HOGENOMiHOG000113768.
HOVERGENiHBG004462.
InParanoidiP01185.
KOiK05242.
OMAiPECREGF.
OrthoDBiEOG7NW6C5.
PhylomeDBiP01185.
TreeFamiTF333018.

Family and domain databases

Gene3Di2.60.9.10. 1 hit.
InterProiIPR000981. Neurhyp_horm.
IPR022423. Neurohypophysial_hormone_CS.
[Graphical view]
PANTHERiPTHR11681. PTHR11681. 1 hit.
PfamiPF00220. Hormone_4. 1 hit.
PF00184. Hormone_5. 1 hit.
[Graphical view]
PIRSFiPIRSF001815. Nonapeptide_hormone_precursor. 1 hit.
PRINTSiPR00831. NEUROPHYSIN.
ProDomiPD001676. Neurhyp_horm. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00003. NH. 1 hit.
[Graphical view]
SUPFAMiSSF49606. SSF49606. 1 hit.
PROSITEiPS00264. NEUROHYPOPHYS_HORM. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti11 – 111L → P in AAA98772. (PubMed:2991279)Curated
Sequence conflicti48 – 481G → D in AAB86629. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171S → F in NDI. 1 Publication
VAR_004980
Natural varianti19 – 191A → T in NDI; probably causes insufficient processing of precursor. 6 Publications
VAR_004981
Natural varianti19 – 191A → V in NDI. 2 Publications
VAR_004982
Natural varianti21 – 211Y → H in NDI. 1 Publication
VAR_015262
Natural varianti26 – 261P → L in NDI; weakly active. 1 Publication
VAR_015263
Natural varianti45 – 451G → R in NDI. 1 Publication
VAR_004983
Natural varianti48 – 481G → V in NDI. 1 Publication
VAR_004984
Natural varianti51 – 511R → C in NDI. 1 Publication
VAR_004985
Natural varianti52 – 521C → R in NDI.
VAR_015264
Natural varianti54 – 541G → R in NDI. 3 Publications
VAR_015265
Natural varianti54 – 541G → V in NDI. 1 Publication
VAR_015266
Natural varianti55 – 551P → L in NDI. 1 Publication
VAR_004986
Natural varianti58 – 581C → F in NDI. 1 Publication
VAR_029997
Natural varianti59 – 591C → R in NDI.
VAR_015267
Natural varianti59 – 591C → Y in NDI. 1 Publication
VAR_015268
Natural varianti67 – 671V → A in NDI. 1 Publication
Corresponds to variant rs28934878 [ dbSNP | Ensembl ].
VAR_019273
Natural varianti78 – 781E → G in NDI. 2 Publications
VAR_004988
Natural varianti78 – 781Missing in NDI. 2 Publications
VAR_004987
Natural varianti81 – 811L → P in NDI. 1 Publication
VAR_004989
Natural varianti82 – 821P → L.
Corresponds to variant rs5195 [ dbSNP | Ensembl ].
VAR_011894
Natural varianti87 – 871S → F in NDI. 1 Publication
VAR_015269
Natural varianti88 – 881G → R in NDI. 1 Publication
VAR_004990
Natural varianti88 – 881G → S in NDI. 1 Publication
VAR_004991
Natural varianti92 – 921C → S in NDI. 2 Publications
VAR_004992
Natural varianti92 – 921C → Y in NDI. 2 Publications
VAR_015270
Natural varianti93 – 931G → W in NDI. 1 Publication
VAR_004993
Natural varianti96 – 961G → C in NDI. 2 Publications
VAR_004994
Natural varianti96 – 961G → D in NDI. 1 Publication
VAR_019274
Natural varianti96 – 961G → V in NDI.
VAR_015271
Natural varianti97 – 971R → C in NDI.
VAR_015272
Natural varianti97 – 971R → P in NDI. 1 Publication
VAR_015273
Natural varianti98 – 981C → G in NDI. 1 Publication
VAR_015274
Natural varianti98 – 981C → S in NDI. 1 Publication
VAR_029998
Natural varianti99 – 991A → P in NDI. 1 Publication
VAR_029999
Natural varianti104 – 1041C → F in NDI. 1 Publication
VAR_015275
Natural varianti104 – 1041C → G in NDI. 1 Publication
VAR_019275
Natural varianti105 – 1051C → R in NDI. 1 Publication
VAR_015276
Natural varianti105 – 1051C → Y in NDI. 1 Publication
VAR_015279
Natural varianti116 – 1161C → G in NDI; strong accumulation in the endoplasmic reticulum and an altered morphology of this organelle. 2 Publications
VAR_015277
Natural varianti116 – 1161C → R in NDI. 1 Publication
VAR_015278
Natural varianti116 – 1161C → W in NDI. 1 Publication
VAR_019276
Natural varianti119 – 1191G → V.1 Publication
Corresponds to variant rs1051744 [ dbSNP | Ensembl ].
VAR_011895

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. Translation: CAC10205.1.
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.
UniGeneiHs.89648.

Genome annotation databases

EnsembliENST00000380293; ENSP00000369647; ENSG00000101200.
GeneIDi551.
KEGGihsa:551.
UCSCiuc002whu.3. human.

Polymorphism databases

DMDMi128083.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Vasopressin entry

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. Translation: CAC10205.1 .
X62891 Genomic DNA. Translation: CAA44682.1 .
BC126196 mRNA. Translation: AAI26197.1 .
BC126224 mRNA. Translation: AAI26225.1 .
CCDSi CCDS13045.1.
PIRi A39269.
B94676. NVHU2.
RefSeqi NP_000481.2. NM_000490.4.
UniGenei Hs.89648.

3D structure databases

ProteinModelPortali P01185.
SMRi P01185. Positions 32-116.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107032. 6 interactions.
IntActi P01185. 1 interaction.
STRINGi 9606.ENSP00000369647.

Polymorphism databases

DMDMi 128083.

Proteomic databases

PaxDbi P01185.
PRIDEi P01185.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000380293 ; ENSP00000369647 ; ENSG00000101200 .
GeneIDi 551.
KEGGi hsa:551.
UCSCi uc002whu.3. human.

Organism-specific databases

CTDi 551.
GeneCardsi GC20M003063.
HGNCi HGNC:894. AVP.
MIMi 125700. phenotype.
192340. gene.
neXtProti NX_P01185.
Orphaneti 30925. Hereditary central diabetes insipidus.
PharmGKBi PA25186.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG44533.
HOGENOMi HOG000113768.
HOVERGENi HBG004462.
InParanoidi P01185.
KOi K05242.
OMAi PECREGF.
OrthoDBi EOG7NW6C5.
PhylomeDBi P01185.
TreeFami TF333018.

Enzyme and pathway databases

Reactomei REACT_111118. BMAL1:CLOCK,NPAS2 activates circadian gene expression.
REACT_17041. Vasopressin-like receptors.
REACT_18283. G alpha (q) signalling events.
REACT_19327. G alpha (s) signalling events.
REACT_23988. Transport of organic anions.
REACT_24023. Vasopressin regulates renal water homeostasis via Aquaporins.

Miscellaneous databases

GeneWikii Vasopressin.
GenomeRNAii 551.
NextBioi 2277.
PMAP-CutDB P01185.
PROi P01185.
SOURCEi Search...

Gene expression databases

Bgeei P01185.
CleanExi HS_AVP.
ExpressionAtlasi P01185. baseline.
Genevestigatori P01185.

Family and domain databases

Gene3Di 2.60.9.10. 1 hit.
InterProi IPR000981. Neurhyp_horm.
IPR022423. Neurohypophysial_hormone_CS.
[Graphical view ]
PANTHERi PTHR11681. PTHR11681. 1 hit.
Pfami PF00220. Hormone_4. 1 hit.
PF00184. Hormone_5. 1 hit.
[Graphical view ]
PIRSFi PIRSF001815. Nonapeptide_hormone_precursor. 1 hit.
PRINTSi PR00831. NEUROPHYSIN.
ProDomi PD001676. Neurhyp_horm. 1 hit.
[Graphical view ] [Entries sharing at least one domain ]
SMARTi SM00003. NH. 1 hit.
[Graphical view ]
SUPFAMi SSF49606. SSF49606. 1 hit.
PROSITEi PS00264. NEUROHYPOPHYS_HORM. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line."
    Sausville E., Carney D., Battey J.
    J. Biol. Chem. 260:10236-10241(1985) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "The neurohypophyseal hormones vasopressin and oxytocin. Precursor structure, synthesis and regulation."
    Rehbein M., Hillers M., Mohr E., Ivell R., Morley S., Schmale H., Richter D.
    Biol. Chem. Hoppe-Seyler 367:695-704(1986) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "Expression of the vasopressin and oxytocin genes in human hypothalami."
    Mohr E., Hillers M., Ivell R., Haulica I.D., Richter D.
    FEBS Lett. 193:12-16(1985) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. "A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus."
    Bahnsen U., Oosting P., Swaab D.F., Nahke P., Richter D., Schmale H.
    EMBO J. 11:19-23(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT NDI VAL-48.
  5. "A missense mutation in the vasopressin mRNA with human small-cell lung carcinoma."
    Du J., North W.G.
    Submitted (OCT-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-119.
    Tissue: Lung carcinoma.
  6. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  8. "On the nature of oxytocin and vasopressin from human pituitary."
    Light A., du Vigneaud V.
    Proc. Soc. Exp. Biol. Med. 98:692-696(1958) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 20-28, AMIDATION AT GLY-28.
  9. "Identification of human neurophysins: complete amino acid sequences of MSEL- and VLDV-neurophysins."
    Chauvet M.-T., Hurpet D., Chauvet J., Acher R.
    Proc. Natl. Acad. Sci. U.S.A. 80:2839-2843(1983) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 32-124.
  10. "The complete sequence of a novel human pituitary glycopeptide homologous to pig posterior pituitary glycopeptide."
    Seidah N.G., Benjannet S., Chretien M.
    Biochem. Biophys. Res. Commun. 100:901-907(1981) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 126-164.
  11. "Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation."
    McLeod J.F., Kovacs L., Gaskill M.B., Rittig S., Bradley G.S., Robertson G.L.
    J. Clin. Endocrinol. Metab. 77:599A-599G(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI THR-19.
  12. "Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus."
    Yuasa H., Ito M., Nagasaki H., Oiso Y., Miyamoto S., Sasaki N., Saito H.
    J. Clin. Endocrinol. Metab. 77:600-604(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI GLU-78 DEL.
  13. "Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus."
    Ito M., Oiso Y., Murase T., Kondo K., Saito H., Chinzei T., Racchi M., Lively M.O.
    J. Clin. Invest. 91:2565-2571(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI THR-19.
  14. "A de novo mutation in the coding sequence for neurophysin-II (Pro24-->Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus."
    Repaske D.R., Browning J.E.
    J. Clin. Endocrinol. Metab. 79:421-427(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI LEU-55.
  15. "Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus."
    Nagasaki H., Ito M., Yuasa H., Saito H., Fukase M., Hamada K., Ishikawa E., Katakami H., Oiso Y.
    J. Clin. Endocrinol. Metab. 80:1352-1356(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI TRP-93.
  16. "Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus."
    Rittig S., Robertson G.L., Siggaard C., Kovacs L., Gregersen N., Nyborg J., Pedersen E.B.
    Am. J. Hum. Genet. 58:107-117(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NDI PHE-17; THR-19; VAL-19; ARG-45; CYS-51; GLY-78; PRO-81; ARG-88; SER-88; SER-92 AND CYS-96.
  17. "Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II."
    Gagliardi P.C., Bernasconi S., Repaske D.R.
    J. Clin. Endocrinol. Metab. 82:3643-3646(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI VAL-54.
  18. "Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus."
    Calvo B., Bilbao J.R., Urrutia I., Eizaguirre J., Gaztambide S., Castano L.
    J. Clin. Endocrinol. Metab. 83:995-997(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI THR-19.
  19. "Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant."
    Grant F.D., Ahmadi A., Hosley C.M., Majzoub J.A.
    J. Clin. Endocrinol. Metab. 83:3958-3964(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NDI PHE-87 AND TYR-92.
  20. "Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin."
    Willcutts M.D., Felner E., White P.C.
    Hum. Mol. Genet. 8:1303-1307(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI LEU-26.
  21. "Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier."
    Calvo B., Bilbao J.R., Rodriguez A., Rodriguez-Arnao M.D., Castano L.
    J. Clin. Endocrinol. Metab. 84:3351-3354(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI ARG-54.
  22. "Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin-neurophysin II gene (AVP-NP II) in two Dutch families with familial neurohypophyseal diabetes insipidus."
    Abbes A.P., Bruggeman B., van den Akker E.L.T., de Groot M.R., Franken A.A.M., Drexhage V.R., Engel H.
    Clin. Chem. 46:1699-1702(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NDI ARG-116 AND GLY-116.
  23. "A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes."
    Skordis N., Patsalis P.C., Hettinger J.A., Kontou M., Herakleous E., Krishnamani M.R., Phillips J.A. III
    Horm. Res. 53:239-245(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI TYR-59.
  24. "Familial neurohypophyseal diabetes insipidus associated with a novel mutation in the vasopressin-neurophysin II gene."
    Fujii H., Iida S., Moriwaki K.
    Int. J. Mol. Med. 5:229-234(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI TYR-105.
  25. "A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus."
    Mundschenk J., Rittig S., Siggaard C., Hensen J., Lehnert H.
    Exp. Clin. Endocrinol. Diabetes 109:406-409(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI PRO-97.
  26. "Familial neurohypophysial diabetes insipidus in a large Dutch kindred: effect of the onset of diabetes on growth in children and cell biological defects of the mutant vasopressin prohormone."
    Nijenhuis M., van den Akker E.L.T., Zalm R., Franken A.A.M., Abbes A.P., Engel H., de Wied D., Burbach J.P.H.
    J. Clin. Endocrinol. Metab. 86:3410-3420(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI GLY-116, CHARACTERIZATION OF VARIANT NDI GLY-116.
  27. "A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus."
    DiMeglio L.A., Gagliardi P.C., Browning J.E., Quigley C.A., Repaske D.R.
    Mol. Genet. Metab. 72:39-44(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI GLY-98.
  28. "Clinical and molecular analysis of three families with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel and recurrent mutations in the vasopressin-neurophysin II gene."
    Rutishauser J., Kopp P., Gaskill M.B., Kotlar T.J., Robertson G.L.
    Eur. J. Endocrinol. 146:649-656(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NDI ARG-54; TYR-92 AND ARG-105.
  29. "Identification of a novel mutation in the arginine vasopressin-neurophysin II gene in familial central diabetes insipidus."
    Bullmann C., Kotzka J., Grimm T., Heppner C., Jockenhovel F., Krone W., Muller-Wieland D.
    Exp. Clin. Endocrinol. Diabetes 110:134-137(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI SER-92.
  30. "Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine-2 in the vasopressin moiety of the hormone precursor."
    Rittig S., Siggaard C., Ozata M., Yetkin I., Gregersen N., Pedersen E.B., Robertson G.L.
    J. Clin. Endocrinol. Metab. 87:3351-3355(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI HIS-21.
  31. "A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus."
    Santiprabhob J., Browning J.E., Repaske D.R.
    Mol. Genet. Metab. 77:112-118(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI PHE-104.
  32. "A signal peptide mutation of the arginine vasopressin gene in monozygotic twins."
    Boson W.L., Sarubi J.C., D'Alva C.B., Friedman E., Faria D., De Marco L., Wajchenberg B.
    Clin. Endocrinol. (Oxf.) 58:108-110(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI THR-19.
  33. "Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene."
    Elias P.C.L., Elias L.L.K., Torres N., Moreira A.C., Antunes-Rodrigues J., Castro M.
    Clin. Endocrinol. (Oxf.) 59:511-518(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI PRO-99.
  34. "A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus."
    Wolf M.T.F., Doetsch J., Metzler M., Holder M., Repp R., Rascher W.
    Horm. Res. 60:143-147(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI PHE-58.
  35. "Identification of a novel mutation in the arginine vasopressin-neurophysin II gene affecting the sixth intrachain disulfide bridge of the neurophysin II moiety."
    Baglioni S., Corona G., Maggi M., Serio M., Peri A.
    Eur. J. Endocrinol. 151:605-611(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NDI SER-98.
  36. "Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis."
    Christensen J.H., Siggaard C., Corydon T.J., deSanctis L., Kovacs L., Robertson G.L., Gregersen N., Rittig S.
    Eur. J. Hum. Genet. 12:44-51(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NDI THR-19; VAL-19; ARG-54; ALA-67; GLY-78; GLU-78 DEL; ASP-96; CYS-96; GLY-104 AND TRP-116.

Entry informationi

Entry nameiNEU2_HUMAN
AccessioniPrimary (citable) accession number: P01185
Secondary accession number(s): A0AV35, O14935
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: August 1, 1992
Last modified: November 26, 2014
This is version 164 of the entry and version 2 of the sequence. [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

External Data

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