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

NUP98 Gene

protein-coding   GIFtS: 65
GCID: GC11M003697

Nucleoporin 98kDa

(Previous name: nucleoporin 98kD)
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 98kDa1 2     Nup98-Nup962
Nucleoporin 98kD1     GLFG-Repeat Containing Nucleoporin2
ADIR22     Nuclear Pore Complex Protein Nup98-Nup962
NUP1962     ADAR23
NUP962     

External Ids:    HGNC: 80681   Entrez Gene: 49282   Ensembl: ENSG000001107137   OMIM: 6010215   UniProtKB: P529483   

Export aliases for NUP98 gene to outside databases

Previous GC identifers: GC11M004267 GC11M003962 GC11M003655 GC11M003660 GC11M003652 GC11M003696 GC11M003430


(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 NUP98 Gene:
Signal-mediated nuclear import and export proceed through the nuclear pore complex (NPC), which is comprised of
approximately 50 unique proteins collectively known as nucleoporins. The 98 kDa nucleoporin is generated through
a biogenesis pathway that involves synthesis and proteolytic cleavage of a 186 kDa precursor protein. This
cleavage results in the 98 kDa nucleoporin as well as a 96 kDa nucleoporin, both of which are localized to the
nucleoplasmic side of the NPC. Rat studies show that the 98 kDa nucleoporin functions as one of several docking
site nucleoporins of transport substrates. The human gene has been shown to fuse to several genes following
chromosome translocations in acute myelogenous leukemia (AML) and T-cell acute lymphocytic leukemia (T-ALL). This
gene is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene
region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor,
rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alternative splicing of this
gene results in several transcript variants; however, not all variants have been fully described. (provided by
RefSeq, May 2010)

GeneCards Summary for NUP98 Gene: 
NUP98 (nucleoporin 98kDa) is a protein-coding gene. Diseases associated with NUP98 include weaver syndrome, and acute myeloid leukemia with t translocation, and among its related super-pathways are Interactions of Rev with host cellular proteins and Mitotic Anaphase. GO annotations related to this gene include structural constituent of nuclear pore and transporter activity.

UniProtKB/Swiss-Prot: NUP98_HUMAN, P52948
Function: Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. Nup98 and Nup96 are involved
in the bidirectional transport across the NPC. May anchor NUP153 and TPR to the NPC

Gene Wiki entry for NUP98 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_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NUP98 gene promoter:
         Nkx3-1 v2   Nkx3-1   MEF-2A   Nkx3-1 v4   Tal-1   Egr-1   Nkx3-1 v3   Nkx3-1 v1   aMEF-2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNUP98 promoter sequence
   Search SABiosciences Chromatin IP Primers for NUP98

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NUP98


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

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15

NUP98 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NUP98 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M003697:  view genomic region     (about GC identifiers)

Start:
3,692,313 bp from pter      End:
3,819,022 bp from pter
Size:
126,710 bases      Orientation:
minus 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: NUP98_HUMAN, P52948 (See protein sequence)
Recommended Name: Nuclear pore complex protein Nup98-Nup96 precursor  
Size: 1817 amino acids; 197579 Da
Subunit: Part of the nuclear pore complex (NPC). Nup98 interacts directly with Nup96. Nup98 interacts directly
with NUP88 and NUP214, subunits of the cytoplasmic filaments of the NPC (By similarity). Nup96 is part of the
Nup160 subcomplex in the nuclear pore which is composed of NUP160, NUP133, NUP107 and Nup96. This complex plays a
role in RNA export and in tethering Nup98 and NUP153 to the nucleus. Interacts with RAE1. Does not interact with
TPR. Interacts with vesicular stomatitis virus protein M
Subcellular location: Nucleus. Nucleus membrane; Peripheral membrane protein; Nucleoplasmic side. Nucleus, nuclear
pore complex. Note=Nup96 is localized to the nucleoplasmic side of the nuclear pore complex (NPC), at or near the
nucleoplasmic basket. Dissociates from the dissasembled NPC structure early during prophase of mitosis.
Colocalized with NUP153 and TPR to the nuclear basket of NPC. Detected in diffuse and discrete intranuclear foci.
Remained localized to the nuclear membrane after poliovirus (PV) infection
Sequence caution: Sequence=AAD22395.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of
unknown origin in the C-terminal part; Sequence=AAD22396.1; Type=Miscellaneous discrepancy; Note=Contaminating
sequence. Sequence of unknown origin in the C-terminal part; Sequence=AAF19342.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=AAF19342.1; Type=Frameshift; Positions=1551;
4 PDB 3D structures from and Proteopedia for NUP98:
1KO6 (3D)        2Q5X (3D)        2Q5Y (3D)        3MMY (3D)    
Secondary accessions: Q8IUT2 Q8WYB0 Q96E54 Q9H3Q4 Q9NT02 Q9UF57 Q9UHX0 Q9Y6J4 Q9Y6J5
Alternative splicing: 6 isoforms:  P52948-1   P52948-2   P52948-3   P52948-4   P52948-5   P52948-6   

Explore the universe of human proteins at neXtProt for NUP98: NX_P52948

Explore proteomics data for NUP98 at MOPED 

Post-translational modifications:

  • UniProtKB: Isoform 1 to isoform 4 are autoproteolytically cleaved to yield Nup98 and Nup96 or Nup98 only, respectively.
    Cleaved Nup98 is necessary for the targeting of Nup98 to the nuclear pore and the interaction with Nup96
  • UniProtKB: Proteolytically degraded after poliovirus (PV) infection; degradation is partial and NCP- and TPR-binding domains
    withstand degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P52948

  • NUP98 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NUP98 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_005378.4  NP_057404.2  NP_624357.1  NP_624358.2  

    ENSEMBL proteins: 
     ENSP00000432275   ENSP00000316032   ENSP00000347404   ENSP00000413146   ENSP00000433515  
     ENSP00000433226   ENSP00000380199   ENSP00000380202   ENSP00000436226   ENSP00000432142  
     ENSP00000380208   ENSP00000434698   ENSP00000352091  
    Reactome Protein details: P52948
    Human Recombinant Protein Products for NUP98: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NUP98 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000776colocalizes with kinetochore IDA15146057
    GO:0005634nucleus ----
    GO:0005635nuclear envelope TAS--
    GO:0005643nuclear pore NAS10087256
    GO:0005654nucleoplasm TAS--

    NUP98 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:
     IPR007230 Peptidase_S59
     IPR021967 Nup96

    Graphical View of Domain Structure for InterPro Entry P52948

    ProtoNet protein and cluster: P52948

    1 Blocks protein domain: IPB007230 Nucleoporin autopeptidase

    UniProtKB/Swiss-Prot: NUP98_HUMAN, P52948
    Domain: Contains G-L-F-G repeats. The FG repeat domains in Nup98 have a direct role in the transport
    Similarity: Belongs to the nucleoporin GLFG family
    Similarity: Contains 1 peptidase S59 domain


    NUP98 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: NUP98_HUMAN, P52948
    Function: Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. Nup98 and Nup96 are involved
    in the bidirectional transport across the NPC. May anchor NUP153 and TPR to the NPC

         Genatlas biochemistry entry for NUP98:
    nucleoporin,essential component of multiple RNA export pathway,unlikely involved in the nuclear import of
    protein,fused with HOX9D in acute myeloid leukemia with translocation t(7;11) (p15;p15),and with DDX10 in de novo
    or therapy related myeloid malignancies with HOXD13 in translocation t(2;11) (q35;p15) with inv11(p15-q22) and
    with PMX1 in translocation t(1;11) (q23;p15),with RAP1GDS1 in t(4;11)(q21;p15) in T cell acute lymphocitic
    leukemia,fused with TOP1 in t(11;20)(p15;q11) in therapy related myelodysplastic syndrome

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS7736573
    GO:0005515protein binding IPI15146057
    GO:0017056structural constituent of nuclear pore NAS9348540
    GO:0042277peptide binding IEA--
         
    NUP98 for ontologies           About GeneDecksing


    Phenotypes:
         10 GenomeRNAi human phenotypes for NUP98:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A virus in  Decreased influenza A/WSN/33 r 
     Decreased viability  Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa  Nuclear 40S maturation defects 
     Nuclear 60S biogenesis defects  Nucleoplasmic pre-40S maturati 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nup98):
     cellular  embryogenesis  growth/size  hematopoietic system  immune system 
     mortality/aging 

    NUP98 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NUP98: Nup98tm1Jvd Nup98tm1Bmaf

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NUP98 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NUP98 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NUP98 

    miRNA
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    hsa-miR-4291 hsa-miR-562 hsa-miR-607 hsa-let-7d hsa-miR-938 hsa-miR-16-1* hsa-miR-3653 hsa-miR-3916
    SwitchGear 3'UTR luciferase reporter plasmidNUP98 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUP98


    (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 NUP98 About   (see all 14)                                                                                              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
    2M Phase
    Mitotic Anaphase0.94
    M Phase0.88
    Separation of Sister Chromatids0.94
    Mitotic M-M/G1 phases0.88
    Mitotic Metaphase and Anaphase0.94
    3HIV Life Cycle
    HIV Life Cycle0.92
    HIV Infection0.61
    Late Phase of HIV Life Cycle0.92
    Host Interactions of HIV factors0.60
    4Interferon Signaling
    Interferon Signaling0.61
    Antiviral mechanism by IFN-stimulated genes0.42
    Cytokine Signaling in Immune system0.61
    ISG15 antiviral mechanism0.42
    5Resolution of Sister Chromatid Cohesion
    Resolution of Sister Chromatid Cohesion0.93
    Mitotic Prometaphase0.93

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for NUP98
        Cytoskeletal Signaling

    5/34        Reactome Pathways for NUP98 (see all 34)
        Mitotic Prometaphase
    Interactions of Rev with host cellular proteins
    Rev-mediated nuclear export of HIV RNA
    Mitotic Prophase
    Interferon Signaling


    2         Kegg Pathways  (Kegg details for NUP98):
        RNA transport
    Influenza A


    NUP98 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NUP98

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

    5/51 Interacting proteins for NUP98 (P529482, 3 ENSP000003160324) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NXF1Q9UBU92, 3, ENSP000002941724MINT-15768 I2D: score=4 STRING: ENSP00000294172
    RAE1P784062, 3, ENSP000003602864MINT-7294477 I2D: score=3 STRING: ENSP00000360286
    HNRNPUL1Q9BUJ22, 3, ENSP000003758634MINT-7294513 I2D: score=1 STRING: ENSP00000375863
    APCP250543, ENSP000002574304I2D: score=3 STRING: ENSP00000257430
    NUP88Q995673, ENSP000002256964I2D: score=3 STRING: ENSP00000225696
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000059protein import into nucleus, docking NAS15229283
    GO:0000278mitotic cell cycle TAS--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006260DNA replication IMP9348540
    GO:0006810transport ----

    NUP98 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

    NUP98 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NUP98

    3 Novoseek inferred chemical compound relationships for NUP98 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    deguelin 72.7 8 16174445 (4), 17650673 (4)
    gtp 15.4 1 10875935 (1)
    oligonucleotide 1.04 1 19696924 (1)

    Search CenterWatch for drugs/clinical trials and news about NUP98

    (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 NUP98 gene (4 alternative transcripts): 
    NM_005387.5  NM_016320.4  NM_139131.3  NM_139132.3  

    Unigene Cluster for NUP98:

    Nucleoporin 98kDa
    Hs.524750  [show with all ESTs]
    Unigene Representative Sequence: NM_016320
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000533346 ENST00000324932(uc001lyg.3 uc001lyh.3 uc001lyi.3)
    ENST00000355260 ENST00000429801 ENST00000469881 ENST00000482690 ENST00000524563
    ENST00000530345 ENST00000488828 ENST00000529063 ENST00000483285 ENST00000397004
    ENST00000397007(uc001lyj.2 uc001lyk.2) ENST00000530516 ENST00000527104
    ENST00000529379 ENST00000397013 ENST00000461047
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB040538.1 AF071076.1 AF071077.1 AF116074.1 AF231130.1 AK292882.1 AK301512.1 AL133601.1 
    AL137613.1 BC012906.1 BC041136.1 BT007349.1 U41815.1 

    24/27 DOTS entries (see all 27):

    DT.117788  DT.95305850  DT.100745542  DT.91769481  DT.100801254  DT.95305846  DT.97809667  DT.100801237 
    DT.91769485  DT.92040153  DT.120744135  DT.120744288  DT.120744689  DT.86852639  DT.86853246  DT.91769490 
    DT.95318918  DT.100739046  DT.120744398  DT.75101527  DT.91769491  DT.91769492  DT.95182995  DT.91731843 

    24/347 AceView cDNA sequences (see all 347):

    NM_139131 CF541172 CO247236 AI688252 CB159858 AL133601 BM023551 CA426208 
    AL703833 CK724964 CA307636 AW276430 BU950167 AW574828 BM713887 CA418353 
    BM676505 CA313022 AI924128 BQ017277 CK904679 BM023259 BM709348 AI627205 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for NUP98 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d · 11e ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^
    SP1:                    -                                                                                   -     -                                             
    SP2:                    -                                                                                         -                                             
    SP3:                    -                                                                                   -     -                                             
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b ^ 30a · 30b ^ 31 ^ 32a · 32b ^ 33a · 33b ^
    SP1:                                      -                                                                                               -           -         
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                    -                                                                 -           -         
    SP5:                                                                                                                                                            

    ExUns: 34a · 34b · 34c · 34d
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for NUP98

    (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

    NUP98 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGATAATGT
    NUP98 Expression
    About this image


    See NUP98 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NUP98

    SOURCE GeneReport for Unigene cluster: Hs.524750
        SABiosciences Custom PCR Arrays for NUP98
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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 eukaryotes.

    Orthologs for NUP98 gene from 10/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nup985 nucleoporin 98   --   7 (54.71 cM) 102134204 
    chicken
    (Gallus gallus)
    Aves NUP981 nucleoporin 98kDa 73.45(n)
    77.58(a)
      430616  XM_428171.3  XP_428171.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    NUP986
    nucleoporin 98kDa
    68(a)
    67(a)
    possible ortholog
    1 ↔ 1
    AAWZ02037962(5957-12326)
    GL343900.1(24448-80293)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.25222 Xenopus laevis transcribed sequence with weak similarity more 75.6(n)    CA972248.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc635932 hypothetical protein MGC63593 76.59(n)   393658  BC058869.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG101983
    Nup981
    Nucleoporin 981 29(a)3
    46.34(n)1
    38.31(a)1
      428161  NM_142930.21  NP_651187.21 
    worm
    (Caenorhabditis elegans)
    Secernentea npp-106
    Nuclear pore complex protein Nup98-Nup96 Nuclear p...
    26(a)
    1 ↔ 1
    III(6013495-6019552)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NUP100(YKL068W)4 Subunit of the nuclear pore complex (NPC) that is localized more   --   11(310199-313078) 853796  NP_012855.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SAR31 suppressor of auxin resistance 3 41.86(n)
    30.68(a)
      844407  NM_106716.3  NP_178183.2 
    rice
    (Oryza sativa)
    Liliopsida Os03g01720001 hypothetical protein 42.99(n)
    32.56(a)
      4331780  NM_001055651.1  NP_001049116.1 


    ENSEMBL Gene Tree for NUP98 (if available)
    TreeFam Gene Tree for NUP98 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NUP98 gene
    1 SIMAP similar gene for NUP98 using alignment to 11 protein entries:     NUP98_HUMAN (see all proteins):
    NUP98/HOXC13

    NUP98 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) 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

    10/2946 SNPs in NUP98 are shown (see all 2946)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0358594
    A breast cancer sample4--see VAR_0358592 G V mis40--------
    rs588677541,2
    C--3508893(+) AAAAA-/A/A   
      AAAAAA
    GGCCA
    4 -- int11NA 2
    rs614719481,2
    C--3547270(+) AAAAA-/AAAAAA
    /AAAAAAA
    CATGT
    8 -- int1 cds11NA 2
    rs1380521551,2
    --3695787(+) AATAAG/TATCTG 2 -- ds50010--------
    rs1851674251,2
    --3695887(+) AATCTA/GATTTA 2 -- ds50010--------
    rs65784111,2
    C,F,A,H--3695972(+) ATTCTA/GTTGGG 2 -- ds500121Minor allele frequency- G:0.09EA NA NS WA 2550
    rs1490810281,2
    --3696016(+) ATATGC/TACAGC 2 -- ds50010--------
    rs1894634101,2
    --3696066(+) TTTCCC/TCTTAT 2 -- ds50010--------
    rs1924606501,2
    --3696190(+) GCCACC/TATAAA 2 -- ds50010--------
    rs1431925271,2
    --3696311(+) TCTAGA/GTCATT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for NUP98 (3692313 - 3819022 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for NUP98 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2744047CNV Deletion23290073
    esv2664722CNV Deletion23128226
    nsv896893CNV Loss21882294
    nsv428247CNV Loss18775914
    nsv832052CNV Loss17160897
    nsv528141CNV Loss19592680
    nsv526441CNV Gain19592680
    nsv832051CNV Gain17160897
    essv2992CNV CNV17122850
    dgv337e1CNV 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601021    OMIM disorders: --

    UniProtKB/Swiss-Prot: NUP98_HUMAN, P52948
  • Note=A chromosomal aberration involving NUP98 is found in a form of acute myeloid leukemia. Translocation
    t(7;11)(p15;p15) with HOXA9. Translocation t(11;17)(p15;p13) with PHF23
  • Note=A chromosomal aberration involving NUP98 is found in childhood acute myeloid leukemia. Translocation
    t(5;11)(q35;p15.5) with NSD1. Translocation t(8;11)(p11.2;p15) with WHSC1L1
  • Note=A chromosomal aberration involving NUP98 is found in a form of therapy-related myelodysplastic
    syndrome. Translocation t(11;20)(p15;q11) with TOP1
  • Note=A chromosomal aberration involving NUP98 is found in a form of T-cell acute lymphoblastic leukemia
    (T-ALL). Translocation t(3;11)(q12.2;p15.4) with LNP1
  • Note=A chromosomal aberration involving NUP98 is associated with pediatric acute myeloid leukemia (AML)
    with intermediate characteristics between M2-M3 French-American-British (FAB) subtypes. Translocation
    t(9;11)(p22;p15) with PSIP1/LEDGF. The chimeric transcript is an in-frame fusion of NUP98 exon 8 to PSIP1/LEDGF
    exon 4

  • 20/28 diseases for NUP98 (see all 28):    About MalaCards
    weaver syndrome    acute myeloid leukemia with t translocation    acute monocytic leukemia    acute lymphocytic leukemia
    adrenocortical carcinoma    beckwith-wiedemann syndrome    monocytic leukemia    acute myelomonocytic leukemia
    refractory anemia    wilms tumor    rhabdomyosarcoma    chronic myelomonocytic leukemia
    myelodysplastic syndromes    acute myeloid leukemia    leukemia    stomatitis
    myeloid leukemia    acute leukemia    breast cancer    acute promyelocytic leukemia

    1 disease from the University of Copenhagen DISEASES database for NUP98:
    Leukemia

    NUP98 for disorders           About GeneDecksing

    10/16 Novoseek inferred disease relationships for NUP98 gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemogenesis 84.7 13 20237156 (2), 15193442 (1), 19380029 (1), 20417862 (1) (see all 9)
    myelodysplastic syndromes 72.1 10 17988990 (2), 11681408 (2), 10830185 (1), 10502319 (1) (see all 8)
    aml childhood 72 5 15951287 (2), 11493482 (1), 15725483 (1), 12353270 (1)
    aml adult 67.5 2 19665072 (1), 12619167 (1)
    hematologic malignancies 65.1 12 16467868 (1), 19665070 (1), 17988990 (1), 12183408 (1) (see all 12)
    leukemia 65.1 21 15390187 (2), 17233820 (2), 16105755 (2), 20233715 (2) (see all 17)
    t-all 61.7 12 12810632 (3), 17233820 (2), 16467868 (1), 10477737 (1) (see all 5)
    chromosomal aberrations 58.1 6 10565304 (1), 10700860 (1), 11850070 (1), 16419055 (1) (see all 6)
    myeloid leukemia 54 3 18604245 (1), 15454493 (1), 16028218 (1)
    hematopoietic malignancies 51.9 3 16467868 (2), 15951287 (1)

    Genetic Association Database (GAD): NUP98
    Human Genome Epidemiology (HuGE) Navigator: NUP98 (1 document)

    Export disorders for NUP98 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 NUP98 gene, integrated from 9 sources (see all 223):
    (articles sorted by number of sources associating them with NUP98)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel vertebrate nucleoporins Nup133 and Nup160 play a role in mRNA export. (PubMed id 11684705)1, 2, 9 Vasu S.... Forbes D.J. (2001)
    2. Structural constraints on autoprocessing of the human nucleoporin Nup98. (PubMed id 18287282)1, 2, 9 Sun Y. and Guo H.C. (2008)
    3. NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15). (PubMed id 11986249)1, 2, 9 Rosati R.... Mecucci C. (2002)
    4. The inv(11)(p15q22) chromosome translocation of de novo and therapy-related myeloid malignancies results in fusion of the nucleoporin gene, NUP98, with the putative RNA helicase gene, DDX10. (PubMed id 9166830)1, 3, 9 Arai Y....Ohki M. (1997)
    5. A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. (PubMed id 11493482)1, 2, 9 Jaju R.J....Wainscoat J.S. (2001)
    6. The t(11;20)(p15;q11) chromosomal translocation associated with therapy-related myelodysplastic syndrome results in an NUP98-TOP1 fusion. (PubMed id 10556215)1, 2, 9 Ahuja H.G.... Aplan P.D. (1999)
    7. The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOXA9. (PubMed id 8563754)1, 2, 9 Borrow J.... Housman D.E. (1996)
    8. t(9;11)(p22;p15) with NUP98-LEDGF fusion gene in pediatric acute myeloid leukemia. (PubMed id 15725483)1, 2, 9 Morerio C.... Panarello C. (2005)
    9. Nucleoporins as components of the nuclear pore complex core structure and Tpr as the architectural element of the nuclear basket. (PubMed id 15229283)1, 2, 9 Krull S....Cordes V.C. (2004)
    10. The three-dimensional structure of the autoproteolytic, nuclear pore- targeting domain of the human nucleoporin Nup98. (PubMed id 12191480)1, 2, 9 Hodel A.E....Powers M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 4928 HGNC: 8068 AceView: NUP98 Ensembl:ENSG00000110713 euGenes: HUgn4928
    ECgene: NUP98 Kegg: 4928 H-InvDB: NUP98

    (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 NUP98 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NUP98 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NUP98 gene:
    Search GeneIP for patents involving NUP98

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



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