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NUP98 Gene

protein-coding   GIFtS: 65
GCID: GC11M003700

Nucleoporin 98kDa

(Previous name: nucleoporin 98kD)
  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 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 GC11M003697


(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 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 monocytic leukemia. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_009237.19  NC_018922.2  
Regulatory elements:
   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 Chromatin IP Primers for NUP98

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC11M003700:  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 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: 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
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: 

  • 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 Nup961
  • Proteolytically degraded after poliovirus (PV) infection; degradation is partial and NCP- and TPR-binding domains
    withstand degradation1
  • Ubiquitination2 at Lys193, Lys534, Lys572, Lys603, Lys639, Lys757, Lys1019, Lys1040, Lys1052, Lys1222,
                                 Lys1341, Lys1405, Lys1601, Lys1608, Lys1668, Lys1722, Lys1739
  • Modification sites at PhosphoSitePlus

  • See NUP98 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    NUP98 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene Protein Over-expression Lysates
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    Novus Biologicals NUP98 Proteins
    Novus Biologicals NUP98 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NUP98

    NUP98 Antibody Products:

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    Abcam antibodies for NUP98
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    NUP98 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for NUP98
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NUP98
    Cloud-Clone Corp. CLIAs for NUP98


    (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:
     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,
    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: 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:    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 

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

    NUP98 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NUP98
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NUP98

       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
    Products:
        
    miRTarBase miRNAs that target NUP98:
    hsa-mir-652-3p (MIRT039534), hsa-mir-34a-5p (MIRT025511), hsa-mir-18a-3p (MIRT040801), hsa-mir-98-5p (MIRT027735), hsa-mir-16-5p (MIRT051267), hsa-mir-30a-3p (MIRT049913), hsa-mir-149-5p (MIRT045389)

    Block miRNA regulation of human, mouse, rat NUP98 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NUP98 (see all 36):
    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
    Products:
        
    OriGene RNAi products in human, mouse, rat for NUP98
    Predesigned siRNA for gene silencing in human, mouse, rat NUP98

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NUP98

    Clone
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    OriGene clones in human, mouse for NUP98 (see all 20)
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    GenScript: all cDNA clones in your preferred vector (see all 4): NUP98 (NM_139132)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NUP98
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUP98

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    Browse ESI BIO Cell Lines and PureStem Progenitors for NUP98 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUP98


    (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
    NUP98_HUMAN, P52948: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4

    Gene Ontology (GO): Selected cellular component terms (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


    (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 NUP98 About   (see all 18)  
    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


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


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


    NUP98 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NUP98
    Interactions:

        GeneGlobe Interaction Network for NUP98

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

    Selected Interacting proteins for NUP98 (P529482, 3 ENSP000003160324) via UniProtKB, MINT, STRING, and/or I2D (see all 155)
    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): Selected biological process terms (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, 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 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)



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    (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 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
    Selected 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
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate NUP98 (see all 36):
    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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    GenScript: all cDNA clones in your preferred vector (see all 4): NUP98 (NM_139132)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUP98
    Primer
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    OriGene qPCR primer pairs and template standards for NUP98
    OriGene qSTAR qPCR primer pairs in human, mouse for NUP98
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat NUP98
      QuantiTect SYBR Green Assays in human, mouse, rat NUP98
      QuantiFast Probe-based Assays in human, mouse, rat NUP98

    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 347):

    BM699264 BF056412 BQ063272 AI052679 AA505118 NM_139131 AA628304 CF541172 
    CO247236 AI688252 CB159858 AL133601 BM023551 CA426208 AL703833 CK724964 
    CA307636 AW276430 BU950167 AW574828 BM713887 CA418353 BM676505 CA313022 

    GeneLoc Exon Structure

    Selected 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™, 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)
    About This Section

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    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

    NUP98 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NUP98 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524750
        Custom PCR Arrays for NUP98
    Primer
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    OriGene qPCR primer pairs and template standards for NUP98
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUP98

    (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 eukaryotes.

    Orthologs for NUP98 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nup981 , 5 nucleoporin 981, 5 89.36(n)1
    91.66(a)1
      7 (54.71 cM)5
    2699661  NM_001287164.11  NP_001274093.11 
     1021342045 
    chicken
    (Gallus gallus)
    Aves NUP981 nucleoporin 98kDa 73.37(n)
    77.29(a)
      430616  XM_428171.4  XP_428171.3 
    lizard
    (Anolis carolinensis)
    Reptilia NUP986
    nucleoporin 98kDa
    67(a)
    1 ↔ 1
    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
    Nup98-961
    Nucleoporin 98-961 29(a)3
    45.73(n)1
    36.69(a)1
      428161  NM_001275956.11  NP_001262885.11 
    worm
    (Caenorhabditis elegans)
    Secernentea npp-106
    Protein NPP-10, isoform b (npp-10) mRNA, complete ...
    26(a)
    1 ↔ 1
    III(6013495-6019552) WBGene00003796
    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 SAR3 43.72(n)
    32.31(a)
      844407  NM_106716.3  NP_178183.2 
    rice
    (Oryza sativa)
    Liliopsida Os03g01720001 Os03g0172000 41.76(n)
    30.39(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)
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    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), 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 NUP98 (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) Selected 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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NUP98
    DNA2.0 Custom Variant and Variant Library Synthesis for NUP98

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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
  • Note=A chromosomal aberration involving NUP98 has been identified in acute leukemias. Translocation
    t(6;11)(q24.1;p15.5) with CCDC28A. The chimeric transcript is an in-frame fusion of NUP98 exon 13 to CCDC28A exon
    2. Ectopic expression of NUP98-CCDC28A in mouse promotes the proliferative capacity and self-renewal potential of
    hematopoietic progenitors and rapidly induced fatal myeloproliferative neoplasms and defects in the
    differentiation of the erythro-megakaryocytic lineage

  • Selected diseases for NUP98 (see all 30):    
    About MalaCards
    weaver syndrome    acute monocytic leukemia    adrenocortical carcinoma    monocytic leukemia
    beckwith-wiedemann syndrome    acute lymphocytic leukemia    acute myelomonocytic leukemia    wilms tumor
    rhabdomyosarcoma    chronic myelomonocytic leukemia    refractory anemia    myelodysplastic syndromes
    acute myeloid leukemia    myeloid leukemia    leukemia    stomatitis
    breast cancer    acute leukemia    acute promyelocytic leukemia    influenza

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

    NUP98 for disorders           About GeneDecksing

    Selected 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)
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    PubMed articles for NUP98 gene, integrated from 10 sources (see all 231):
    (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. (J. Cell Biol. 2001)
    2. Structural constraints on autoprocessing of the human nucleoporin Nup98. (PubMed id 18287282)1, 2, 9 Sun Y. and Guo H.C. (Protein Sci. 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. (Blood 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. (Blood 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. (Blood 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. (Blood 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. (Nat. Genet. 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. (Leuk. Res. 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. (Mol. Biol. Cell 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. (Mol. Cell 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4928 HGNC: 8068 AceView: NUP98 Ensembl:ENSG00000110713 euGenes: HUgn4928
    ECgene: NUP98 Kegg: 4928 H-InvDB: NUP98

    (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 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.)
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    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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