Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P01185

- NEU2_HUMAN

UniProt

P01185 - NEU2_HUMAN

Protein

Vasopressin-neurophysin 2-copeptin

Gene

AVP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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

    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. Regulation of water balance by renal 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

    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

    ArrayExpressiP01185.
    BgeeiP01185.
    CleanExiHS_AVP.
    GenevestigatoriP01185.

    Interactioni

    Protein-protein interaction databases

    BioGridi107032. 5 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.
    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

    MPDTMLPACF LGLLAFSSAC YFQNCPRGGK RAMSDLELRQ CLPCGPGGKG    50
    RCFGPSICCA DELGCFVGTA EALRCQEENY LPSPCQSGQK ACGSGGRCAA 100
    FGVCCNDESC VTEPECREGF HRRARASDRS NATQLDGPAG ALLLRLVQLA 150
    GAPEPFEPAQ PDAY 164
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 5 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.
    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. Regulation of water balance by renal Aquaporins.

    Miscellaneous databases

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

    Gene expression databases

    ArrayExpressi P01185.
    Bgeei P01185.
    CleanExi HS_AVP.
    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

    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: October 1, 2014
    This is version 162 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

    Dasty 3