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NUP54 Gene

protein-coding   GIFtS: 58
GCID: GC04M077035

Nucleoporin 54kDa

(Previous name: nucleoporin 54kD)
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)
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Aliases
Nucleoporin 54kDa1 2
54 KDa Nucleoporin2 3
Nucleoporin 54kD1
Nucleoporin P542

External Ids:    HGNC: 173591   Entrez Gene: 533712   Ensembl: ENSG000001387507   OMIM: 6076075   UniProtKB: Q7Z3B43   

Export aliases for NUP54 gene to outside databases

Previous GC identifers: GC04M076931 GC04M077225 GC04M077428 GC04M077494 GC04M077392 GC04M072788


(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 NUP54 Gene:
The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two
concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate
the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100
different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the
phe-gly (FG) repeat-containing nucleoporin subset. Multiple alternatively spliced transcript variants have been
found for this gene. (provided by RefSeq, Jun 2013)

GeneCards Summary for NUP54 Gene:
NUP54 (nucleoporin 54kDa) is a protein-coding gene. Diseases associated with NUP54 include influenza, and renal cell carcinoma. GO annotations related to this gene include nucleocytoplasmic transporter activity.

UniProtKB/Swiss-Prot: NUP54_HUMAN, Q7Z3B4
Function: Component of the nuclear pore complex, a complex required for the trafficking across the nuclear
membrane (By similarity)

Gene Wiki entry for NUP54 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_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NUP54 gene promoter:
         E2F-4   E2F-3a   E2F-5   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   E2F-2   Ik-3   POU3F2   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNUP54 promoter sequence
   Search Chromatin IP Primers for NUP54

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NUP54


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

Entrez Gene cytogenetic band: 4q21.1   Ensembl cytogenetic band:  4q21.1   HGNC cytogenetic band: 4q21.1

NUP54 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NUP54 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M077035:  view genomic region     (about GC identifiers)

Start:
77,035,812 bp from pter      End:
77,069,668 bp from pter
Size:
33,857 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NUP54_HUMAN, Q7Z3B4 (See protein sequence)
Recommended Name: Nucleoporin p54  
Size: 507 amino acids; 55435 Da
Subunit: Component of the p62 complex, a complex composed of NUP62, NUP54, and the isoform p58 and isoform p45 of
NUPL1 (By similarity)
Sequence caution: Sequence=BAA91735.1; Type=Frameshift; Positions=479;
Secondary accessions: B2RCK7 Q96EA7 Q9NVL5 Q9P0I1
Alternative splicing: 2 isoforms:  Q7Z3B4-1   Q7Z3B4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NUP54: NX_Q7Z3B4

Explore proteomics data for NUP54 at MOPED

Post-translational modifications: 

  • O-glycosylated (By similarity)1
  • Ubiquitination2 at Lys363, Lys428
  • Modification sites at PhosphoSitePlus

  • See NUP54 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001265532.1  NP_059122.2  

    ENSEMBL proteins: 
     ENSP00000425243   ENSP00000264883   ENSP00000426609   ENSP00000421304   ENSP00000424172  
     ENSP00000421932   ENSP00000424389   ENSP00000344052   ENSP00000406103  
    Reactome Protein details: Q7Z3B4

    NUP54 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for NUP54


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR024864 Nup54/Nup57/Nup44
     IPR025712 Nup54_alpha-helical_dom

    Graphical View of Domain Structure for InterPro Entry Q7Z3B4

    ProtoNet protein and cluster: Q7Z3B4

    UniProtKB/Swiss-Prot: NUP54_HUMAN, Q7Z3B4
    Domain: Contains FG repeats
    Similarity: Belongs to the NUP54 family


    NUP54 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: NUP54_HUMAN, Q7Z3B4
    Function: Component of the nuclear pore complex, a complex required for the trafficking across the nuclear
    membrane (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005487nucleocytoplasmic transporter activity IEA--
    GO:0005515protein binding ----
         
    NUP54 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for NUP54:
     Decreased Wnt reporter activit  Nuclear 60S biogenesis defects  Nucleoplasmic pre-40S maturati 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NUP54
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    miRTarBase miRNAs that target NUP54:
    hsa-mir-24-3p (MIRT030464), hsa-mir-484 (MIRT016625)

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    2 qRT-PCR Assays for microRNAs that regulate NUP54:
    hsa-miR-19b hsa-miR-19a
    SwitchGear 3'UTR luciferase reporter plasmidNUP54 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUP54


    (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
    NUP54_HUMAN, Q7Z3B4: Nucleus, nuclear pore complex (By similarity). Nucleus membrane; Peripheral membrane
    protein; Cytoplasmic side (By similarity). Nucleus membrane; Peripheral membrane protein; Nucleoplasmic side (By
    similarity). Note=Biased towards cytoplasmic side. Central region of the nuclear pore complex, within the
    transporter (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope TAS--
    GO:0005643nuclear pore IEA--
    GO:0005654nucleoplasm TAS8707840
    GO:0005737cytoplasm TAS8707840
    GO:0031965nuclear membrane IEA--

    NUP54 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 NUP54 About   (see all 14)                                                                                              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
    4Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    5Transport of Mature Transcript to Cytoplasm
    Transport of Mature Transcript to Cytoplasm0.93
    Transport of Mature mRNA derived from an Intron-Containing Transcript0.93

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected Reactome Pathways for NUP54 (see all 6)
        Rev-mediated nuclear export of HIV RNA
    Regulation of Glucokinase by Glucokinase Regulatory Protein
    Nuclear import of Rev protein
    Nuclear Pore Complex (NPC) Disassembly
    Vpr-mediated nuclear import of PICs


    1 Kegg Pathway  (Kegg details for NUP54):
        RNA transport


    NUP54 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NUP54
    Interactions:

        Search GeneGlobe Interaction Network for NUP54

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

    Selected Interacting proteins for NUP54 (Q7Z3B42, 3 ENSP000002648834) via UniProtKB, MINT, STRING, and/or I2D (see all 150)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158342, 3, ENSP000003116954MINT-68368 I2D: score=5 STRING: ENSP00000311695
    NUP62P371982, 3, ENSP000003055034MINT-66139 I2D: score=6 STRING: ENSP00000305503
    AP2B1P630102, 3, ENSP000003144144MINT-67650 I2D: score=5 STRING: ENSP00000314414
    MCM5P339923, ENSP000002161224I2D: score=5 STRING: ENSP00000216122
    APCP250543, ENSP000002574304I2D: score=3 STRING: ENSP00000257430
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006605protein targeting IEA--
    GO:0006913nucleocytoplasmic transport ----
    GO:0007077mitotic nuclear envelope disassembly TAS--

    NUP54 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 NUP54



    (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,
    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 NUP54 gene (2 alternative transcripts): 
    NM_001278603.1  NM_017426.3  

    Unigene Cluster for NUP54:

    Nucleoporin 54kDa
    Hs.430435  [show with all ESTs]
    Unigene Representative Sequence: NM_017426
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000508604 ENST00000507257 ENST00000264883(uc003hjs.3 uc010ije.3 uc011cbs.2 uc011cbt.2 uc003hjt.3)
    ENST00000502850 ENST00000508465 ENST00000514987 ENST00000512151 ENST00000513248
    ENST00000504173 ENST00000514313 ENST00000515460 ENST00000514307 ENST00000506098
    ENST00000514901 ENST00000508583 ENST00000510569 ENST00000510884 ENST00000513352

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate NUP54:
    hsa-miR-19b hsa-miR-19a
    SwitchGear 3'UTR luciferase reporter plasmidNUP54 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: NUP54 (NM_017426)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NUP54
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUP54
    Primer
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    OriGene qPCR primer pairs and template standards for NUP54
    OriGene qSTAR qPCR primer pairs in human, mouse for NUP54
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NUP54
      QuantiTect SYBR Green Assays in human, mouse, rat NUP54
      QuantiFast Probe-based Assays in human, mouse, rat NUP54

    Additional mRNA sequence: 

    AF157322.1 AK001517.1 AK222752.1 AK223352.1 AK299442.1 AK300036.1 AK307571.1 AK315160.1 
    BC012559.1 BC034226.1 BX538002.1 

    17 DOTS entries:

    DT.414013  DT.95077094  DT.436689  DT.92433214  DT.121217906  DT.40232664  DT.121217926  DT.121217887 
    DT.97814143  DT.100023436  DT.100779541  DT.101954398  DT.102824279  DT.101966177  DT.121217907  DT.121217920 
    DT.95358579 

    Selected AceView cDNA sequences (see all 184):

    BM457215 BE046134 AI623874 AL513646 CB129366 BG548343 BE897592 BU682623 
    BI518687 CR624655 BE551760 BM667524 AL704512 N20965 BP371261 BX091745 
    AA291034 BU160859 BP376671 AL558709 BM919563 AL137650 CN480564 AU129632 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NUP54 (see all 16)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b ^
    SP1:                          -     -     -                                                                       -                       -                     
    SP2:                                                              -     -     -                                   -                 -     -                     
    SP3:                          -     -     -                       -     -     -                                                                                 
    SP4:                          -     -     -                       -     -     -                             -     -                                             
    SP5:                                                                                                                                      -           -         

    ExUns: 14a · 14b · 14c · 14d
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for NUP54

    (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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    NUP54 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGGAAAAA
    NUP54 Expression
    About this image

    NUP54 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NUP54 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.430435
        Custom PCR Arrays for NUP54
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUP54

    (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 NUP54 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nup541 , 5 nucleoporin 541, 5 87.87(n)1
    96.08(a)1
      5 (46.75 cM)5
    2691131  NM_183392.21  NP_899248.11 
     924155405 
    chicken
    (Gallus gallus)
    Aves NUP541 nucleoporin 54kDa 80.02(n)
    91(a)
      422639  XM_420594.4  XP_420594.3 
    lizard
    (Anolis carolinensis)
    Reptilia NUP546
    nucleoporin 54kDa
    86(a)
    1 ↔ 1
    5(146919438-146928162)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC685412 hypothetical protein MGC68541 76.09(n)    BC060003.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufp63g062 wufp63g06 74.06(n)   335750  57041402 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG88313
    Nup541
    Nucleoporin 541 39(a)3
    49.06(n)1
    40.83(a)1
      49A43
    363601  NM_136939.31  NP_610783.11 
    worm
    (Caenorhabditis elegans)
    Secernentea npp-16
    Protein NPP-1, isoform c
    21(a)
    1 ↔ 1
    IV(9858488-9862118) WBGene00003787


    ENSEMBL Gene Tree for NUP54 (if available)
    TreeFam Gene Tree for NUP54 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NUP54 gene
    1 SIMAP similar gene for NUP54 using alignment to 7 protein entries:     NUP54_HUMAN (see all proteins):
    DKFZp434L1613

    NUP54 for paralogs           About GeneDecksing



    (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 NUP54 (see all 895)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs716593091,2
    C--76872883(+) ATTTGT/-TTTTT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs588222351,2
    C--76889977(+) TAAGAA/GGCAGT 1 -- us2k14Minor allele frequency- G:0.21NA WA EA 360
    rs606716511,2
    C--76890011(+) GACCTC/AGTGCA 1 -- us2k14Minor allele frequency- A:0.21NA WA EA 360
    rs755990061,2
    C--77035332(+) ACTCC-/AGAT  
            
    AGATA
    1 -- ds50010--------
    rs2007609041,2
    C--77035335(+) CCAGAC/TAGATA 1 -- ds50010--------
    rs2021102311,2
    C--77035356(+) CACAC-/TCTTCACC 1 -- ds50010--------
    rs1131963591,2
    C,F--77035383(+) TACAAC/TAGCAA 1 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1156723041,2
    --77035423(+) GTCAAC/TACAAG 1 -- ds50010--------
    rs790325641,2
    C--77035447(+) GAGAA-/GTGCAA 1 -- ds50010--------
    rs777974931,2
    C--77035493(+) CCCAA-/AT/TA 
            
    ATATA
    1 -- ds50010--------

    HapMap Linkage Disequilibrium report for NUP54 (77035812 - 77069668 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NUP54:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv470047CNV Gain18288195
    nsv461558CNV Gain19166990
    esv275315CNV Gain+Loss21479260
    nsv7363OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 607607    OMIM disorders: --

    5 diseases for NUP54:    About MalaCards
    influenza    renal cell carcinoma    hiv-1    malaria
    hepatitis


    NUP54 for disorders           About GeneDecksing


    Export disorders for NUP54 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 NUP54 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with NUP54)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    3. Molecular and functional characterization of the p62 complex, an assembly of nuclear pore complex glycoproteins. (PubMed id 8707840)1, 3 Hu T....Gerace L. (J. Cell Biol. 1996)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    5. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. HIV-1 accessory protein Vpr: relevance in the pathogenesis of HIV and potential for therapeutic intervention. (PubMed id 21489275)1 Kogan M. and Rappaport J. (Retrovirology 2011)

    (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: 53371 HGNC: 17359 AceView: NUP54 Ensembl:ENSG00000138750 euGenes: HUgn53371
    ECgene: NUP54 Kegg: 53371 H-InvDB: NUP54

    (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 NUP54 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 NUP54 gene:
    Search GeneIP for patents involving NUP54

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



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