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

NUP50 Gene

protein-coding   GIFtS: 59
GCID: GC22P045559

Nucleoporin 50kDa

(Previous name: nucleoporin 50kD)
(Previous symbol: NPAP60L)
Microbiology & Infectious Diseases Congress
  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
Nucleoporin 50kDa1 2     Nucleoporin 50kD1
NPAP60L1 2 3 5     Nuclear Pore Complex Protein Nup502
Nucleoporin Nup502 3     Nuclear Pore-Associated Protein 60L2
50 KDa Nucleoporin2 3     Nuclear Pore-Associated Protein 60 KDa-Like3
NPAP602 5     

External Ids:    HGNC: 80651   Entrez Gene: 107622   Ensembl: ENSG000000930007   OMIM: 6046465   UniProtKB: Q9UKX73   

Export aliases for NUP50 gene to outside databases

Previous GC identifers: GC22P042195 GC22P043836 GC22P043880 GC22P043938 GC22P028504


(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 NUP50 Gene:
The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that
regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components
of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat
containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein
import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for NUP50 Gene: 
NUP50 (nucleoporin 50kDa) is a protein-coding gene. Diseases associated with NUP50 include autoimmune hepatitis, and influenza, and among its related super-pathways are Interactions of Rev with host cellular proteins and HIV Life Cycle. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: NUP50_HUMAN, Q9UKX7
Function: Component of the nuclear pore complex that has a direct role in nuclear protein import. Actively
displaces NLSs from importin-alpha, and facilitates disassembly of the importin-alpha:beta-cargo complex and
importin recycling. Interacts with multiple transport receptor proteins including CDKN1B. This interaction is
required for correct intracellular transport and degradation of CDKN1B

Gene Wiki entry for NUP50 Gene


(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_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NUP50 gene promoter:
         E2F-1   E2F   GATA-3   E2F-2   GATA-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NUP50 promoter sequence
   Search SABiosciences Chromatin IP Primers for NUP50

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NUP50


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

Entrez Gene cytogenetic band: 22q13.31   Ensembl cytogenetic band:  22q13.31   HGNC cytogenetic band: 22q13.3

NUP50 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NUP50 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P045559:  view genomic region     (about GC identifiers)

Start:
45,559,722 bp from pter      End:
45,583,892 bp from pter
Size:
24,171 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.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NUP50_HUMAN, Q9UKX7 (See protein sequence)
Recommended Name: Nuclear pore complex protein Nup50  
Size: 468 amino acids; 50144 Da
Subunit: Interacts with Importin alpha-2, Importin beta, Importin beta-2, NUP153, Ran binding protein 7, CDKN1B
and itself (By similarity). Does not interact with TPR
Subcellular location: Nucleus, nuclear pore complex. Nucleus membrane; Peripheral membrane protein; Nucleoplasmic
side (By similarity). Note=Localizes to the nucleoplasmic fibrils of the nuclear pore complex (By similarity).
Dissociates from the NPC structure early during prophase of mitosis. Associates to the newly formed nuclear
membrane during telophase
2 PDB 3D structures from and Proteopedia for NUP50:
2EC1 (3D)        3TJ3 (3D)    
Secondary accessions: B1AHA4 B2RB15 O75644 Q8N6V5 Q9NPM9 Q9NPR6 Q9P1K5
Alternative splicing: 2 isoforms:  Q9UKX7-1   Q9UKX7-2   (Contrarily to Npap60L, Npap60S does not displaces NLSs, but stabilizes their binding to importin-alpha)

Explore the universe of human proteins at neXtProt for NUP50: NX_Q9UKX7

Explore proteomics data for NUP50 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UKX7

  • NUP50 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NUP50 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_009103.2  NP_705931.1  

    ENSEMBL proteins: 
     ENSP00000345895   ENSP00000385555   ENSP00000415062   ENSP00000394450   ENSP00000388426  
     ENSP00000397960   ENSP00000398297   ENSP00000379403   ENSP00000400465   ENSP00000391987  
     ENSP00000416264   ENSP00000406928  
    Reactome Protein details: Q9UKX7
    Human Recombinant Protein Products for NUP50: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NUP50 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005643nuclear pore IEA--
    GO:0005654nucleoplasm TAS--
    GO:0031965nuclear membrane IDA12802065

    NUP50 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
    3 InterPro protein domains:
     IPR000156 Ran_bind_dom
     IPR011993 PH_like_dom
     IPR015007 NUP2/50/61

    Graphical View of Domain Structure for InterPro Entry Q9UKX7

    ProtoNet protein and cluster: Q9UKX7

    1 Blocks protein domain: IPB000156 RanBP1 domain

    UniProtKB/Swiss-Prot: NUP50_HUMAN, Q9UKX7
    Domain: Contains FG repeats
    Similarity: Contains 1 RanBD1 domain


    NUP50 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: NUP50_HUMAN, Q9UKX7
    Function: Component of the nuclear pore complex that has a direct role in nuclear protein import. Actively
    displaces NLSs from importin-alpha, and facilitates disassembly of the importin-alpha:beta-cargo complex and
    importin recycling. Interacts with multiple transport receptor proteins including CDKN1B. This interaction is
    required for correct intracellular transport and degradation of CDKN1B

         Genatlas biochemistry entry for NUP50:
    nucleoporin,nuclear pore associated protein homolog to rat Npap60,showing a complex pattern of expression and
    multiple transcripts,only one,expressed primarly in testis,involved in the differentiation of spermatocytes in
    spermatozoa,a second transcript specific of blood leucocytes

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12802065
         
    NUP50 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for NUP50:
     Decreased Wnt reporter activit  Nucleoplasmic pre-40S maturati  Small cells 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nup50):
     embryogenesis  growth/size  mortality/aging  nervous system 

    NUP50 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NUP50 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NUP50 
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    SwitchGear 3'UTR luciferase reporter plasmidNUP50 3' UTR sequence
    Inhib. RNA
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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

    SuperPaths for NUP50 About   (see all 11)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Regulation of Glucokinase by Glucokinase Regulatory Protein
    Rev-mediated nuclear export of HIV RNA0.94
    Hexose transport0.87
    Nuclear import of Rev protein0.94
    Regulation of Glucokinase by Glucokinase Regulatory Protein0.82
    Interactions of Rev with host cellular proteins0.94
    Nuclear Pore Complex (NPC) Disassembly0.77
    Vpr-mediated nuclear import of PICs0.91
    Nuclear Envelope Breakdown0.77
    2HIV Life Cycle
    HIV Life Cycle0.92
    HIV Infection0.61
    Late Phase of HIV Life Cycle0.92
    Host Interactions of HIV factors0.60
    3Interferon Signaling
    Interferon Signaling0.61
    Antiviral mechanism by IFN-stimulated genes0.42
    Cytokine Signaling in Immune system0.61
    ISG15 antiviral mechanism0.42
    4M Phase
    M Phase0.88
    Mitotic M-M/G1 phases0.88
    5Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/29        Reactome Pathways for NUP50 (see all 29)
        Antiviral mechanism by IFN-stimulated genes
    Late Phase of HIV Life Cycle
    Metabolism
    Cell Cycle
    M Phase


    1         Kegg Pathway  (Kegg details for NUP50):
        RNA transport


    NUP50 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NUP50

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/72 Interacting proteins for NUP50 (Q9UKX73 ENSP000003458954) via UniProtKB, MINT, STRING, and/or I2D (see all 72)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDKN1BP465273, ENSP000002288724I2D: score=3 STRING: ENSP00000228872
    KPNB1Q149743, ENSP000002901584I2D: score=2 STRING: ENSP00000290158
    RANP628263, ENSP000003961274I2D: score=2 STRING: ENSP00000396127
    SLX4Q8IY923, ENSP000002940084I2D: score=2 STRING: ENSP00000294008
    NUP153P497903, ENSP000002620774I2D: score=1 STRING: ENSP00000262077
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0007077mitotic nuclear envelope disassembly TAS--
    GO:0008645hexose transport TAS--
    GO:0010827regulation of glucose transport TAS--

    NUP50 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 NUP50

    Search CenterWatch for drugs/clinical trials and news about NUP50

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NUP50 gene (2 alternative transcripts): 
    NM_007172.3  NM_153645.2  

    Unigene Cluster for NUP50:

    Nucleoporin 50kDa
    Hs.475103  [show with all ESTs]
    Unigene Representative Sequence: NM_007172
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000347635(uc003bfr.3 uc003bfs.3 uc011aqn.2 uc003bft.3)
    ENST00000407019 ENST00000424634 ENST00000417702 ENST00000497960 ENST00000461437
    ENST00000434760 ENST00000430547 ENST00000484186 ENST00000445721 ENST00000493456
    ENST00000396096 ENST00000461194 ENST00000432340 ENST00000419387 ENST00000422489
    ENST00000486184 ENST00000491860
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/79 QIAGEN miScript miRNA Assays for microRNAs that regulate NUP50 (see all 79):
    hsa-miR-548j hsa-miR-15a hsa-miR-1258 hsa-miR-3653 hsa-miR-578 hsa-miR-548a-5p hsa-miR-3148 hsa-miR-2113
    SwitchGear 3'UTR luciferase reporter plasmidNUP50 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF107840.1 AF267865.1 AK304223.1 AK314454.1 AL389949.1 AL389950.1 AL389951.1 BC016055.1 
    BC020260.1 BC028125.1 BC039468.1 BC070133.1 CR456533.1 

    19 DOTS entries:

    DT.100709963  DT.315388  DT.100774828  DT.99929500  DT.97816733  DT.120666835  DT.121307012  DT.75122545 
    DT.92435676  DT.120666880  DT.120776367  DT.121306918  DT.75140517  DT.92435671  DT.92435675  DT.92435677 
    DT.95121530  DT.86850259  DT.97844572 

    24/303 AceView cDNA sequences (see all 303):

    AW178372 AI089800 BE505010 AA394305 AA261931 AA421023 CR456533 NM_153684 
    AI393254 BF115623 AA398507 NM_153645 BM541708 W79264 NM_007172 BX475916 
    BQ011808 AW590100 BG682578 T54391 BF591017 BM478613 BF476450 AA907880 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for NUP50    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7
    SP1:              -     -     -     -           -     -     -           -         
    SP2:                          -                                                   
    SP3:              -     -     -     -                                             
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for NUP50

    (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

    NUP50 expression in normal human tissues (normalized intensities)      NUP50 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATGTGAAT
    NUP50 Expression
    About this image


    NUP50 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
             breast epithelium   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             leukocytes   

    See NUP50 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NUP50

    SOURCE GeneReport for Unigene cluster: Hs.475103

    UniProtKB/Swiss-Prot: NUP50_HUMAN, Q9UKX7
    Tissue specificity: Ubiquitous. Highest levels in testis, peripheral blood leukocytes and fetal liver

        SABiosciences Expression via Pathway-Focused PCR Array including NUP50: 
              Neurotoxicity in human mouse rat

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    In Situ
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    (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 animals.

    Orthologs for NUP50 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nup501 , 5 nucleoporin 501, 5 81.75(n)1
    78.88(a)1
      15 (40.25 cM)5
    181411  NM_016714.21  NP_057923.21 
     849234285 
    chicken
    (Gallus gallus)
    Aves NUP501 nucleoporin 50kDa 73.03(n)
    73.97(a)
      418240  NM_001012541.1  NP_001012559.1 
    lizard
    (Anolis carolinensis)
    Reptilia NUP506
    Uncharacterized protein
    60(a)
    1 ↔ 1
    5(84523832-84548514)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.71812 Xenopus laevis transcribed sequence with weak similarity more 74.78(n)    AW642357.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa56e032 Danio rerio mRNA similar to nucleoporin 50kDa (cDNA more 73.24(n)    AY398390.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nup501 Nucleoporin 50 49.92(n)
    41.89(a)
      35784  NM_136511.2  NP_610355.1 
    worm
    (Caenorhabditis elegans)
    Secernentea npp-166
    Protein NPP-16, isoform a
    16(a)
    1 ↔ 1
    III(11915891-11917870)


    ENSEMBL Gene Tree for NUP50 (if available)
    TreeFam Gene Tree for NUP50 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NUP50 gene

    NUP50 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for NUP50
    PGOHUM00000247829 PGOHUM00000235156 PGOHUM00000243252 PGOHUM00000243509


    (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

    10/625 SNPs in NUP50 are shown (see all 625)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1406672941,2
    --45561813(+) GCAAAA/GCTGGG 2 -- int10--------
    rs1442537811,2
    C--45561855(+) CTTTAC/TGCTCA 2 -- int10--------
    rs734322681,2
    C--45561897(+) AATGAC/TAGACA 2 -- int12Minor allele frequency- T:0.03WA 120
    rs1114051241,2
    C,F--45561971(+) AGATCG/CCTGCG 2 -- int11Minor allele frequency- C:0.50CSA 2
    rs1820091241,2
    --45562004(+) TGAGTA/GTGTTA 2 -- int10--------
    rs1465824321,2
    --45562195(+) ATGGAA/GTCTTG 2 -- int10--------
    rs1852054691,2
    --45562218(+) GGCTGA/GAGTGC 2 -- int10--------
    rs1899147321,2
    --45562292(+) GCCTCC/TGGAGT 2 -- int10--------
    rs1411914641,2
    C--45562348(+) TTTTTA/TGTAGA 2 -- int10--------
    rs81373921,2
    C,F,A,H--45562468(+) GGCCCC/TACAGT 2 -- int18Minor allele frequency- T:0.31NA WA EA 504

    HapMap Linkage Disequilibrium report for NUP50 (45559722 - 45583892 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for NUP50:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2724390CNV Deletion23290073
    esv2724389CNV Deletion23290073
    nsv834220CNV Loss17160897
    esv6608CNV Gain19470904
    nsv9919CNV Gain+Loss18304495
    dgv1411e1CNV Complex17122850

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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: 604646    OMIM disorders: --

    3 diseases for NUP50:    About MalaCards
    autoimmune hepatitis    influenza    hepatitis


    NUP50 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NUP50
    Human Genome Epidemiology (HuGE) Navigator: NUP50 (1 document)

    Export disorders for NUP50 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 NUP50 gene, integrated from 9 sources (see all 43):
    (articles sorted by number of sources associating them with NUP50)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mapping and complex expression pattern of the human NPAP60L nucleoporin gene. (PubMed id 10449902)1, 2, 3, 9 Trichet V.... McDermid H.E. (1999)
    2. Two isoforms of npap60 (nup50) differentially regulat e nuclear protein import. (PubMed id 20016008)1, 2, 9 Ogawa Y....Yoneda Y. (2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    8. Direct interaction with nup153 mediates binding of Tpr to the periphery of the nuclear pore complex. (PubMed id 12802065)1, 2 Hase M.E. and Cordes V.C. (2003)
    9. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    10. Npap60/Nup50 is a tri-stable switch that stimulates importin-alpha:beta-mediated nuclear protein import. (PubMed id 12176322)1, 9 Lindsay M.E....Macara I.G. (2002)

    (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: 10762 HGNC: 8065 AceView: NUP50 Ensembl:ENSG00000093000 euGenes: HUgn10762
    ECgene: NUP50 Kegg: 10762 H-InvDB: NUP50

    (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 NUP50 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 NUP50 gene:
    Search GeneIP for patents involving NUP50

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



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