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NUP43 Gene

protein-coding   GIFtS: 51
GCID: GC06M150045

Nucleoporin 43kDa

  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)
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Aliases
Nucleoporin 43kDa1 2
Nup107-160 Subcomplex Subunit Nup432 3
p422 3
bA350J20.12
Nucleoporin Nup432

External Ids:    HGNC: 211821   Entrez Gene: 3489952   Ensembl: ENSG000001202537   OMIM: 6081415   UniProtKB: Q8NFH33   

Export aliases for NUP43 gene to outside databases

Previous GC identifers: GC06M150000 GC06M150078 GC06M150076 GC06M150137 GC06M150087 GC06M147611


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NUP43 Gene:
Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes
(NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such
subcomplex, Nup107-160 (Loiodice et al., 2004 (PubMed 15146057)).(supplied by OMIM, Mar 2008)

GeneCards Summary for NUP43 Gene:
NUP43 (nucleoporin 43kDa) is a protein-coding gene. Diseases associated with NUP43 include retinoblastoma, and influenza.

UniProtKB/Swiss-Prot: NUP43_HUMAN, Q8NFH3
Function: Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is
required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore
microtubule attachment, mitotic progression and chromosome segregation

Gene Wiki entry for NUP43 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for NUP43
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNUP43 promoter sequence
   Search Chromatin IP Primers for NUP43

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NUP43


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

Entrez Gene cytogenetic band: 6q25.1   Ensembl cytogenetic band:  6q25.1   HGNC cytogenetic band: 6q25.1

NUP43 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NUP43 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M150045:  view genomic region     (about GC identifiers)

Start:
150,045,451 bp from pter      End:
150,070,801 bp from pter
Size:
25,351 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NUP43_HUMAN, Q8NFH3 (See protein sequence)
Recommended Name: Nucleoporin Nup43  
Size: 380 amino acids; 42151 Da
Subunit: Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex
includes NUP160, NUP133, NUP107, NUP98, NUP85, NUP43, NUP37, SEH1 and SEC13
Sequence caution: Sequence=BAB14536.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for NUP43:
4I79 (3D)    
Secondary accessions: Q9H8S0

Explore the universe of human proteins at neXtProt for NUP43: NX_Q8NFH3

Explore proteomics data for NUP43 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys196
  • Modification sites at PhosphoSitePlus

  • See NUP43 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_942590.1  
    ENSEMBL proteins: 
     ENSP00000342262   ENSP00000356374   ENSP00000385078   ENSP00000356372   ENSP00000438031  
     ENSP00000432401   ENSP00000356373  
    Reactome Protein details: Q8NFH3

    NUP43 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for NUP43
    OriGene Protein Over-expression Lysate for NUP43
    OriGene MassSpec for NUP43
    OriGene Custom Protein Services for NUP43
    GenScript Custom Purified and Recombinant Proteins Services for NUP43
    Novus Biologicals NUP43 Proteins
    Novus Biologicals NUP43 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NUP43

    NUP43 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for NUP43
    Novus Biologicals NUP43 Antibodies
    Abcam antibodies for NUP43
    Cloud-Clone Corp. Antibodies for NUP43
    Search ThermoFisher Antibodies for NUP43
    LSBio Antibodies in human, mouse, rat for NUP43

    NUP43 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NUP43
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NUP43
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NUP43
    Cloud-Clone Corp. CLIAs for NUP43


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    4 InterPro protein domains:
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q8NFH3

    ProtoNet protein and cluster: Q8NFH3

    UniProtKB/Swiss-Prot: NUP43_HUMAN, Q8NFH3
    Similarity: Contains 6 WD repeats


    NUP43 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NUP43_HUMAN, Q8NFH3
    Function: Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is
    required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore
    microtubule attachment, mitotic progression and chromosome segregation

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15146057
         
    NUP43 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NUP43:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NUP43
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NUP43

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NUP43
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NUP43

    miRNA
    Products:
        
    miRTarBase miRNAs that target NUP43:
    hsa-mir-1260b (MIRT052742), hsa-mir-32-5p (MIRT028263)

    Block miRNA regulation of human, mouse, rat NUP43 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NUP43 (see all 19):
    hsa-miR-495 hsa-miR-25 hsa-miR-1285 hsa-miR-3190 hsa-miR-7-1* hsa-miR-3143 hsa-miR-92b hsa-miR-3606
    SwitchGear 3'UTR luciferase reporter plasmidNUP43 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NUP43
    Predesigned siRNA for gene silencing in human, mouse, rat NUP43

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NUP43

    Clone
    Products:
         
    OriGene clones in human, mouse for NUP43 (see all 6)
    OriGene ORF clones in mouse, rat for NUP43
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NUP43 (NM_198887)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NUP43
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUP43

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NUP43
    Browse ESI BIO Cell Lines and PureStem Progenitors for NUP43 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUP43


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NUP43_HUMAN, Q8NFH3: Chromosome, centromere, kinetochore. Nucleus, nuclear pore complex
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    endoplasmic reticulum1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000776colocalizes with kinetochore IDA15146057
    GO:0000777condensed chromosome kinetochore IEA--
    GO:0005635nuclear envelope TAS--
    GO:0005829cytosol TAS--
    GO:0031080nuclear pore outer ring NAS15146057

    NUP43 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for NUP43 About   (see all 16)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Regulation of Glucokinase by Glucokinase Regulatory Protein
    Transport of the SLBP Dependant Mature mRNA0.92
    Export of Viral Ribonucleoproteins from Nucleus0.88
    Transport of Mature mRNAs Derived from Intronless Transcripts0.92
    Transport of Ribonucleoproteins into the Host Nucleus0.88
    Transport of the SLBP independent Mature mRNA0.91
    Regulation of Glucokinase by Glucokinase Regulatory Protein0.87
    Nuclear import of Rev protein0.91
    Glucose transport0.87
    2HIV Life Cycle
    HIV Life Cycle0.91
    HIV Infection0.62
    Late Phase of HIV Life Cycle0.91
    Host Interactions of HIV factors0.60
    3Interferon Signaling
    Interferon Signaling0.59
    ISG15 antiviral mechanism0.42
    Cytokine Signaling in Immune system0.59
    Antiviral mechanism by IFN-stimulated genes0.42
    4Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    5Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected Reactome Pathways for NUP43 (see all 9)
        Rev-mediated nuclear export of HIV RNA
    Regulation of Glucokinase by Glucokinase Regulatory Protein
    Nuclear Pore Complex (NPC) Disassembly
    Nuclear import of Rev protein
    Resolution of Sister Chromatid Cohesion


    1 Kegg Pathway  (Kegg details for NUP43):
        RNA transport


    NUP43 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NUP43
    Interactions:

        Search GeneGlobe Interaction Network for NUP43

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

    Selected Interacting proteins for NUP43 (Q8NFH33 ENSP000003422624) via UniProtKB, MINT, STRING, and/or I2D (see all 132)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HLA-BP304803, ENSP000003991684I2D: score=1 STRING: ENSP00000399168
    NUP107P577403, ENSP000002291794I2D: score=1 STRING: ENSP00000229179
    NUP85Q9BW273, ENSP000002455444I2D: score=1 STRING: ENSP00000245544
    NUP133Q8WUM03, ENSP000002613964I2D: score=1 STRING: ENSP00000261396
    NUP160Q127693, ENSP000003677214I2D: score=1 STRING: ENSP00000367721
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0007059chromosome segregation IEA--
    GO:0007067mitosis IEA--
    GO:0007077mitotic nuclear envelope disassembly TAS--

    NUP43 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NUP43



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NUP43 gene (2 alternative transcripts): 
    NM_024647.4  NM_198887.2  

    Unigene Cluster for NUP43:

    Nucleoporin 43kDa
    Hs.510375  [show with all ESTs]
    Unigene Representative Sequence: NM_198887
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000340413(uc003qmx.4 uc003qmz.3) ENST00000367404 ENST00000403890
    ENST00000367402 ENST00000543637 ENST00000463048 ENST00000460354 ENST00000367403(uc011eef.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NUP43 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NUP43 (see all 19):
    hsa-miR-495 hsa-miR-25 hsa-miR-1285 hsa-miR-3190 hsa-miR-7-1* hsa-miR-3143 hsa-miR-92b hsa-miR-3606
    SwitchGear 3'UTR luciferase reporter plasmidNUP43 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NUP43
    Predesigned siRNA for gene silencing in human, mouse, rat NUP43
    Clone
    Products:
         
    OriGene clones in human, mouse for NUP43 (see all 6)
    OriGene ORF clones in mouse, rat for NUP43
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NUP43 (NM_198887)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NUP43
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUP43
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for NUP43
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NUP43
      QuantiTect SYBR Green Assays in human, mouse, rat NUP43
      QuantiFast Probe-based Assays in human, mouse, rat NUP43

    Additional mRNA sequence: 

    AF514997.1 AK023349.1 AK095994.1 AK301027.1 AK304244.1 AK304505.1 BC040121.1 BC046637.1 
    BC047539.1 BC065028.1 BX647097.1 

    21 DOTS entries:

    DT.95192267  DT.75102938  DT.100726435  DT.86839948  DT.100710191  DT.100742645  DT.100820296  DT.100799046 
    DT.100820294  DT.121374657  DT.95154195  DT.40113540  DT.121374650  DT.121374738  DT.121374747  DT.121374784 
    DT.102828008  DT.121374634  DT.121374774  DT.95272556  DT.99949373 

    Selected AceView cDNA sequences (see all 146):

    CB131619 AA883169 BP344021 N45581 AW473778 BX473243 AI364560 F31889 
    BX281726 BM478052 NM_024647 CD632173 BX473242 AF514997 BQ215956 BX647097 
    CA429794 BM839105 AI391540 BQ774126 BF763983 BU686593 NM_198887 AI354827 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NUP43 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NUP43 Expression
    About this image


    NUP43 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    NUP43 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NUP43 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.510375
        Custom PCR Arrays for NUP43
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for NUP43
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NUP43
    QuantiTect SYBR Green Assays in human, mouse, rat NUP43
    QuantiFast Probe-based Assays in human, mouse, rat NUP43
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUP43

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for NUP43 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nup431 , 5 nucleoporin 431, 5 88.77(n)1
    93.68(a)1
      10 (2.28 cM)5
    699121  NM_145706.21  NP_663752.21 
     76675035 
    chicken
    (Gallus gallus)
    Aves NUP431 nucleoporin 43kDa 75.13(n)
    76.47(a)
      421628  XM_419667.4  XP_419667.2 
    lizard
    (Anolis carolinensis)
    Reptilia NUP436
    nucleoporin 43kDa
    69(a)
    1 ↔ 1
    GL343259.1(305586-314979)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.257112 Xenopus laevis transcribed sequence with moderate similarity more 75.57(n)    BX843375.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.165072 Transcribed sequence with weak similarity to protein more 72.48(n)    CD751589.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nup431 Nucleoporin 43 44.41(n)
    28.86(a)
      42209  NM_142459.3  NP_650716.2 


    ENSEMBL Gene Tree for NUP43 (if available)
    TreeFam Gene Tree for NUP43 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NUP43 gene

    NUP43 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NUP43
    PGOHUM00000245642


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NUP43 (see all 525)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1139569471,2
    C,F--150045193(+) TTTGCG/ACACAA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1846656201,2
    --150045300(+) GGAGTA/CTTGAA 1 -- int10--------
    rs1438269301,2
    --150045411(+) GAATTC/TTGTGT 1 -- int10--------
    rs1385233431,2
    --150045427(+) GCTCCC/TGAGAT 1 -- int10--------
    rs1169072711,2
    C,F--150045436(+) ATAAGA/GCAGAT 1 -- int11Minor allele frequency- G:0.03NA 120
    rs1439963801,2
    --150045466(+) GTATAC/TGAAAA 1 -- ut310--------
    rs801477561,2
    C--150045493(+) AACCC-/G/TGACAT 2 -- ut310--------
    rs352174091,2
    C--150045494(+) ACCCT-/GACATT 1 -- ut311Minor allele frequency- G:0.00CSA 2
    rs761768611,2
    C--150045494(+) ACCCTG/TACATT 1 -- ut310--------
    rs1472885611,2
    C--150045530(+) CGAACA/CTAACA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for NUP43 (150045451 - 150070801 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for NUP43:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv436520CNV Deletion17901297
    esv2732861CNV Deletion23290073
    nsv886762CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NUP43
    DNA2.0 Custom Variant and Variant Library Synthesis for NUP43

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608141    OMIM disorders: --

    5 diseases for NUP43:    
    About MalaCards
    retinoblastoma    influenza    hiv-1    malaria
    hepatitis


    NUP43 for disorders           About GeneDecksing


    Export disorders for NUP43 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)
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    PubMed articles for NUP43 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with NUP43)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Proteomic analysis of the mammalian nuclear pore complex. (PubMed id 12196509)1, 2, 3 Cronshaw J.M.... Matunis M.J. (J. Cell Biol. 2002)
    2. Cell-cycle-dependent phosphorylation of the nuclear pore Nup107-160 subcomplex. (PubMed id 17360435)1, 2 Glavy J.S.... Chait B.T. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    3. The human Nup107-160 nuclear pore subcomplex contributes to proper kinetochore functions. (PubMed id 17363900)1, 2 Zuccolo M.... Doye V. (EMBO J. 2007)
    4. The entire Nup107-160 complex, including three new members, is targeted as one entity to kinetochores in mitosis. (PubMed id 15146057)1, 2 Loieodice I.... Doye V. (Mol. Biol. Cell 2004)
    5. 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. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    8. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 348995 HGNC: 21182 AceView: NUP43 Ensembl:ENSG00000120253 euGenes: HUgn348995
    ECgene: NUP43 Kegg: 348995 H-InvDB: NUP43

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NUP43 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NUP43 gene:
    Search GeneIP for patents involving NUP43

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



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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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