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)

Q9NZP6

- NPAP1_HUMAN

UniProt

Q9NZP6 - NPAP1_HUMAN

Protein

Nuclear pore-associated protein 1

Gene

NPAP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 74 (01 Oct 2014)
      Sequence version 2 (15 May 2007)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    May be involved in spermatogenesis.

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. multicellular organismal development Source: UniProtKB-KW
    3. spermatogenesis Source: UniProtKB

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Spermatogenesis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nuclear pore-associated protein 1
    Gene namesi
    Name:NPAP1
    Synonyms:C15orf2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:1190. NPAP1.

    Subcellular locationi

    Nucleusnucleoplasm 1 Publication. Nucleus inner membrane 1 Publication
    Note: Colocalizes with the NPC and nuclear lamins at the nuclear periphery.

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. nuclear inner membrane Source: UniProtKB-SubCell
    3. nucleoplasm Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Membrane, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25519.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11561156Nuclear pore-associated protein 1PRO_0000243929Add
    BLAST

    Proteomic databases

    PaxDbiQ9NZP6.
    PRIDEiQ9NZP6.

    PTM databases

    PhosphoSiteiQ9NZP6.

    Expressioni

    Tissue specificityi

    Testis-specific in adults. In fetal brain expressed only from the paternal allele.3 Publications

    Gene expression databases

    BgeeiQ9NZP6.
    CleanExiHS_C15orf2.
    GenevestigatoriQ9NZP6.

    Organism-specific databases

    HPAiHPA018828.
    HPA019562.

    Interactioni

    Subunit structurei

    Associates with the nuclear pore complex (NPC).1 Publication

    Protein-protein interaction databases

    STRINGi9606.ENSP00000333735.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NZP6.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi285 – 536252Pro-richAdd
    BLAST

    Phylogenomic databases

    eggNOGiNOG79836.
    HOGENOMiHOG000111850.
    InParanoidiQ9NZP6.
    OMAiFYTSSTH.
    OrthoDBiEOG7VX8V5.
    PhylomeDBiQ9NZP6.
    TreeFamiTF340538.

    Sequencei

    Sequence statusi: Complete.

    Q9NZP6-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGNLLSKFRP GCRRRPLPGP GRGAPAPLSR DASPPGRAHS VPTPRPFRGL     50
    FRRNARRRPS AASIFVAPKR PCPLPRAAAA PLGVLPAVGW GLAIRKTPML 100
    PARNPPRFGH PSSVRIPPPS RMFTLLLPSP REPAVKARKP IPATLLEETE 150
    VWAQEGPRRV KKDEDPVQIE GEDDEKRTPL SSGEASSTSR SQGTQGDVAS 200
    FRCSPGPLEG NVYHKFSENS MSEKAQASPA SSCLEGPAMP STHSQAGCAR 250
    HLGKPDPDAT APPEPAVGCS LLQQKLAAEV LNEEPPPSSL GLPIPLMSGK 300
    RMPDEKPFCI PPRSAAPPRA ARNRPCKRKM SIPLLLPLPP SLPLLWDRGE 350
    LPPPAKLPCL SVEGDLHTLE KSPEYKRNSR ILEDKTETMT NSSITQPAPS 400
    FSQPVQTTDS LPLTTYTSQV SAPLPIPDLA DLATGPLILP IPPLSTTPKM 450
    DEKIAFTIPN SPLALPADLV PILGDQSNEK GGSYNSVVGA APLTSDPPTP 500
    PSSTPSFKPP VTRESPISMC VDSPPPLSFL TLLPVPSTGT SVITSKPMNS 550
    TSVISTVTTN ASAHLTSQTA VDPEVVNMDT TAPSQVVIFT SSLSSRVSSL 600
    PNSQIHCSAE QRHPGKTSVY TSPLPFIFHN TTPSFNQLFG KEATPQPKFE 650
    APDGQPQKAS LPSACVFLSL PIIPPPDTST LVNSASTASS SKPPIETNAM 700
    HTTPPSKAVI LQSASVSKKY LPFYLGLPGS GNTQPSGNTA SVQGSTSLPA 750
    QSVRAPATAS NHPLNPGATP QPKFGAPDGP QQKTSLPSAH DFLSLPIMVP 800
    PDTSTLVSSA SAASLSKPAI DTSDMNTTPP SKTVILQSTF VSRKEEYIRF 850
    YMGLPGSGNT LHSDSIASAQ VSTSFPAQAD RRPTTTSSHP LNTGSISHST 900
    LGATDGQQKS DSSFILGNPA TPAPVIGLTS PSVQPLSGSI IPPGFAELTS 950
    PYTALGTPVN AEPVEGHNAS AFPNGTAKTS GFRIATGMPG TGDSTLLVGN 1000
    TIPGPQVIMG PGTPMDGGSI GFSMSAPGPS STSGELNIGQ GQSGTPSTTS 1050
    VFPFGQAAWD PTGHSMAAAP QGASNIPVFG YTSAAAYIPG LDPPTQNSCS 1100
    GMGGDGTRSI VGGPCVPAFQ QCILQHTWTE RKFYTSSTHY YGQETYVRRH 1150
    VCFQLP 1156
    Length:1,156
    Mass (Da):120,954
    Last modified:May 15, 2007 - v2
    Checksum:iEB8ABE1B1C932CE6
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti34 – 341P → Q.
    Corresponds to variant rs35022251 [ dbSNP | Ensembl ].
    VAR_050878
    Natural varianti37 – 371R → Q in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035682
    Natural varianti114 – 1141V → I in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035683
    Natural varianti152 – 1521W → R.
    Corresponds to variant rs35870568 [ dbSNP | Ensembl ].
    VAR_050879
    Natural varianti212 – 2121V → A.
    Corresponds to variant rs3784246 [ dbSNP | Ensembl ].
    VAR_026872
    Natural varianti253 – 2531G → R.1 Publication
    Corresponds to variant rs1563102 [ dbSNP | Ensembl ].
    VAR_026873
    Natural varianti282 – 2821N → S.
    Corresponds to variant rs7165533 [ dbSNP | Ensembl ].
    VAR_026874
    Natural varianti343 – 3431P → A.
    Corresponds to variant rs36025315 [ dbSNP | Ensembl ].
    VAR_050880
    Natural varianti406 – 4061Q → E.
    Corresponds to variant rs3742950 [ dbSNP | Ensembl ].
    VAR_026875
    Natural varianti757 – 7571A → T.
    Corresponds to variant rs36032407 [ dbSNP | Ensembl ].
    VAR_050881
    Natural varianti929 – 9291T → P.
    Corresponds to variant rs34413216 [ dbSNP | Ensembl ].
    VAR_050882

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF179681 Genomic DNA. Translation: AAF72107.1.
    AC100720 Genomic DNA. No translation available.
    CCDSiCCDS10015.1.
    RefSeqiNP_061831.2. NM_018958.2.
    UniGeneiHs.649663.

    Genome annotation databases

    EnsembliENST00000329468; ENSP00000333735; ENSG00000185823.
    GeneIDi23742.
    KEGGihsa:23742.
    UCSCiuc001ywo.3. human.

    Polymorphism databases

    DMDMi147744554.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF179681 Genomic DNA. Translation: AAF72107.1 .
    AC100720 Genomic DNA. No translation available.
    CCDSi CCDS10015.1.
    RefSeqi NP_061831.2. NM_018958.2.
    UniGenei Hs.649663.

    3D structure databases

    ProteinModelPortali Q9NZP6.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000333735.

    PTM databases

    PhosphoSitei Q9NZP6.

    Polymorphism databases

    DMDMi 147744554.

    Proteomic databases

    PaxDbi Q9NZP6.
    PRIDEi Q9NZP6.

    Protocols and materials databases

    DNASUi 23742.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000329468 ; ENSP00000333735 ; ENSG00000185823 .
    GeneIDi 23742.
    KEGGi hsa:23742.
    UCSCi uc001ywo.3. human.

    Organism-specific databases

    CTDi 23742.
    GeneCardsi GC15P024982.
    GeneReviewsi NPAP1.
    HGNCi HGNC:1190. NPAP1.
    HPAi HPA018828.
    HPA019562.
    MIMi 610922. gene.
    neXtProti NX_Q9NZP6.
    PharmGKBi PA25519.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG79836.
    HOGENOMi HOG000111850.
    InParanoidi Q9NZP6.
    OMAi FYTSSTH.
    OrthoDBi EOG7VX8V5.
    PhylomeDBi Q9NZP6.
    TreeFami TF340538.

    Miscellaneous databases

    GenomeRNAii 23742.
    NextBioi 46659.
    PROi Q9NZP6.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9NZP6.
    CleanExi HS_C15orf2.
    Genevestigatori Q9NZP6.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "Identification of a testis-specific gene (c15orf2) in the Prader-Willi syndrome region on chromosome 15."
      Faerber C., Gross S., Neesen J., Buiting K., Horsthemke B.
      Genomics 65:174-183(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], POSSIBLE FUNCTION, TISSUE SPECIFICITY, VARIANT ARG-253.
    2. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLN-37 AND ILE-114.
    4. "C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain."
      Buiting K., Nazlican H., Galetzka D., Wawrzik M., Gross S., Horsthemke B.
      Genomics 89:588-595(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    5. "The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection."
      Wawrzik M., Unmehopa U.A., Swaab D.F., van de Nes J., Buiting K., Horsthemke B.
      Neurogenetics 11:153-161(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, NUCLEAR LOCALIZATION SIGNAL.
    6. "The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein."
      Neumann L.C., Markaki Y., Mladenov E., Hoffmann D., Buiting K., Horsthemke B.
      Hum. Mol. Genet. 21:4038-4048(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiNPAP1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NZP6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 27, 2006
    Last sequence update: May 15, 2007
    Last modified: October 1, 2014
    This is version 74 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, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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

    External Data

    Dasty 3