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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NPAP1 Gene

protein-coding   GIFtS: 33
GCID: GC15P024982

Nuclear Pore Associated Protein 1

(Previous name: chromosome 15 open reading frame 2)
(Previous symbol: C15orf2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Nuclear Pore Associated Protein 11 2
C15orf21 2 3 5
Chromosome 15 Open Reading Frame 21
Nuclear Pore-Associated Protein 12
Protein C15orf22

External Ids:    HGNC: 11901   Entrez Gene: 237422   Ensembl: ENSG000001858237   OMIM: 6109225   UniProtKB: Q9NZP63   

Export aliases for NPAP1 gene to outside databases

Previous GC identifers: GC15P024951 GC15P024969


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NPAP1 Gene:
This gene is located in the Prader-Willi syndrome region on chromosome 15. This gene is biallelically expressed in
adult testis and brain but is paternally imprinted in fetal brain. Defects in this gene may be associated with
Prader-Willi syndrome. (provided by RefSeq, Aug 2012)

GeneCards Summary for NPAP1 Gene: 
NPAP1 (nuclear pore associated protein 1) is a protein-coding gene. Diseases associated with NPAP1 include microdeletion 15q11.2, and prader-willi syndrome. GO annotations related to this gene include molecular_function.

UniProtKB/Swiss-Prot: NPAP1_HUMAN, Q9NZP6
Function: May be involved in spermatogenesis




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_026446.14  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for NPAP1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for NPAP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NPAP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q11-q13   Ensembl cytogenetic band:  15q11.2   HGNC cytogenetic band: 15q11-q13

NPAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPAP1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P024982:  view genomic region     (about GC identifiers)

Start:
24,920,541 bp from pter      End:
24,928,593 bp from pter
Size:
8,053 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
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About This Section

UniProtKB/Swiss-Prot: NPAP1_HUMAN, Q9NZP6 (See protein sequence)
Recommended Name: Nuclear pore-associated protein 1  
Size: 1156 amino acids; 120954 Da
Subunit: Associates with the nuclear pore complex (NPC)
Subcellular location: Nucleus, nucleoplasm. Nucleus inner membrane. Note=Colocalizes with the NPC and nuclear
lamins at the nuclear periphery

Explore the universe of human proteins at neXtProt for NPAP1: NX_Q9NZP6

Explore proteomics data for NPAP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NZP6

  • NPAP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NPAP1 Protein Expression
    REFSEQ proteins: NP_061831.2  
    ENSEMBL proteins: 
     ENSP00000333735  

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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005637nuclear inner membrane IEA--
    GO:0005654nucleoplasm IEA--

    NPAP1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR026054 Nucleoporin
     IPR026090 POM121

    Graphical View of Domain Structure for InterPro Entry Q9NZP6

    ProtoNet protein and cluster: Q9NZP6


    NPAP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NPAP1_HUMAN, Q9NZP6
    Function: May be involved in spermatogenesis

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    NPAP1 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NPAP1

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis NAS10783265
    GO:0030154cell differentiation IEA--

    NPAP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NPAP1

    Search CenterWatch for drugs/clinical trials and news about NPAP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for NPAP1 gene: 
    NM_018958.2  

    Unigene Cluster for NPAP1:

    Nuclear pore associated protein 1
    Hs.649663  [show with all ESTs]
    Unigene Representative Sequence: NM_018958
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000329468(uc001ywo.3)
    miRNA
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    1 DOTS entry:

    DT.91746507 

    3 AceView cDNA sequences:

    NM_018958 BV188680 AI971905 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NPAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NPAP1 Expression
    About this image


    See NPAP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NPAP1

    SOURCE GeneReport for Unigene cluster: Hs.649663

    UniProtKB/Swiss-Prot: NPAP1_HUMAN, Q9NZP6
    Tissue specificity: Testis-specific in adults. In fetal brain expressed only from the paternal allele

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPAP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of mammals.

    Orthologs for NPAP1 gene from 1/3 species (see all 3)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia --
    --
    --
    38(a)
    38(a)
    many ↔ many
    many ↔ many
    1(78438091-78441195)
    1(78654038-78657310)


    ENSEMBL Gene Tree for NPAP1 (if available)
    TreeFam Gene Tree for NPAP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NPAP1 gene

    NPAP1 for paralogs           About GeneDecksing


    5/9 Pseudogenes.org Pseudogenes for NPAP1 (see all 9)
    PGOHUM00000238798 PGOHUM00000238816 PGOHUM00000238855 PGOHUM00000238872 PGOHUM00000236224


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/365 SNPs in NPAP1 are shown (see all 365)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0356824
    A colorectal cancer sample4--see VAR_0356822 R Q mis40--------
    VAR_0356834
    A colorectal cancer sample4--see VAR_0356832 V I mis40--------
    rs1921778781,2
    --4914473(+) GAAAAA/GTAAAG 1 -- us2k10--------
    rs1857080591,2
    C--4914478(+) ATAAAC/GAGGTG 1 -- us2k10--------
    rs44731641,2
    C,F,A--4914499(+) GAATAC/ACCTTG 1 -- us2k16Minor allele frequency- A:0.36NA EA 248
    rs42543051,2
    C,F--4914501(+) ATACCC/ATTGTC 1 -- us2k12Minor allele frequency- A:0.08NA 122
    rs44159881,2
    F,A--4914568(+) TTCCTG/CTTTGG 1 -- us2k11Minor allele frequency- C:0.07NA 120
    rs44474061,2
    C,A--4914712(+) ATTTTT/CTATTA 1 -- us2k15Minor allele frequency- C:0.30NA WA EA 362
    rs1902833451,2
    --4914715(+) TTTTAC/TTAAAC 1 -- us2k10--------
    rs58113561,2
    C--4914722(+) AAACT-/CTCCTCAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NPAP1 (24920541 - 24928593 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NPAP1: --
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610922    OMIM disorders: --

    4 diseases for NPAP1:    About MalaCards
    microdeletion 15q11.2    prader-willi syndrome    idiopathic generalized epilepsy    angelman syndrome


    NPAP1 for disorders           About GeneDecksing


    Export disorders for NPAP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NPAP1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with NPAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The imprinted NPAP1/C15orf2 gene in the Prader-Willi s yndrome region encodes a nuclear pore complex associated protein. (PubMed id 22694955)1, 2, 3 Neumann L.C....Horsthemke B. (2012)
    2. Identification of a testis-specific gene (c15orf2) in the Prader- Willi syndrome region on chromosome 15. (PubMed id 10783265)1, 2, 3 Faerber C.... Horsthemke B. (2000)
    3. The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection. (PubMed id 20020165)1, 2 Wawrzik M....Horsthemke B. (2010)
    4. C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain. (PubMed id 17337158)1, 2 Buiting K....Horsthemke B. (2007)
    5. Recurrent microdeletions at 15q11.2 and 16p13.11 pred ispose to idiopathic generalized epilepsies. (PubMed id 19843651)1 de Kovel C.G....Sander T. (2010)
    6. A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. (PubMed id 19066619)1 Kanber D.... Buiting K. (2009)
    7. Molecular and clinical characterization of two patien ts with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q . (PubMed id 18627056)1 Calounova G....Sedlacek Z. (2008)
    8. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (2006)
    9. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    10. Prader-Willi Syndrome (PubMed id 20301505)1 Driscoll D.J....Cassidy S.B. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23742 HGNC: 1190 AceView: C15orf2 Ensembl:ENSG00000185823 euGenes: HUgn23742
    ECgene: NPAP1 H-InvDB: NPAP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NPAP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NPAP1 gene:
    Search GeneIP for patents involving NPAP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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