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Symbol NUP98 contributors: mct/pgu - updated : 05-06-2015
HGNC name nucleoporin 98kDa
HGNC id 8068
Corresponding disease
AMLT2 acute myeloid leukemia, with limited differentiation (FAB M2 and M4)
Location 11p15.4      Physical location : 3.696.240 - 3.819.022
Synonym name
  • GLFG-repeat containing nucleoporin
  • nuclear pore complex protein Nup98-Nup96
  • Synonym symbol(s) ADIR2, NUP196, HXAD, NU98, Nup98-Nup96, ADAR2, NUP96
    TYPE functioning gene
    STRUCTURE 126.71 kb     33 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 3908 96.1 920 - 2010 20237156
    32 splicing 6758 - 1726 - 2010 20237156
    33 splicing 6980 195.8 1800 - 2010 20237156
    20 splicing 3959 97.8 937 - 2010 20237156
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas   highly
    Lymphoid/Immunelymph node   highly
     thymus   moderately
    Reproductivefemale systemuterus  highly
     male systemtestis  highly
    Respiratorylung   highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    cell lineage
    cell lines
    at STAGE
  • N terminal docking site, which contains the nucleoporin FG/GLFG repeat motifs , a GLFG domain functioning in pore targeting through binding to NUP93, positioning the GLFG domain in the center of the nuclear pore complex and supporting a role for this nucleoporin in the permeability barrier
  • multiple FG repeats that function in nucleocytoplasmic transport
  • a Gle2-binding sequence (GLEBS), for interaction with RAE1
    interspecies homolog to C.elegans ZK328.5B
  • GLFG nucleoporin family
  • CATEGORY RNA associated , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nuclear envelope,pore
    basic FUNCTION
  • multiple RNA export pathway
  • playing a role in the bidirectional transport across the nucleoporin complex
  • plays roles in several important biological events such as gene expression, mitotic checkpoint, and pathogenesis
  • nucleoporin characterized by multiple FG repeats that function in nucleocytoplasmic transport by interacting with import and export carriers
  • in germ cells, the function of NUP98 extends beyond transport at the nuclear pore (NPC) to include mRNA regulation in the cytoplasm
  • functions as a novel shuttling cofactor for XPO1-mediated nuclear export in conjunction with RANBP3
  • contribution of the nucleoporin NUP98 to mitotic spindle assembly through regulation of microtubule dynamics
  • mitotic phosphorylation of NUP98 is a rate-limiting step in mitotic NPC disassembly
  • major determinant of the permeability barrier of NPCs
  • function in regulating select TP53 target genes that is distinct from the well-characterized oncogenic properties of NUP98 fusion proteins
  • dynamically associates with the human genome during differentiation, revealing a role of a nuclear pore protein in regulating developmental gene expression programs (PMID
  • NUP98 binding to recently expressed promoters plays potentially a conserved role in promoting epigenetic transcriptional memory
    a component
  • essential component of the nuclear pore complex
  • RAE1/NUP98 complex has distinct and versatile roles at different stages of the cell cycle, including the nuclear export of mRNAs and the regulation of the cell cycle progression
    small molecule
  • KPNB2 (can dissociate from its substrate)
  • interaction with RAE1
  • only two of more than 20 nuclear pore core structure components, namely NUP93 and NUP98, are caspase targets
  • NUP98-IQCG fusion protein may play an essential role in leukemogenesis, but by itself may not be sufficient to induce leukemia
  • predominantly interacted with transcriptionally active genes inside the nucleoplasm, in particular those involved in developmental regulation and the cell cycle
  • combined action of CDK1, NEK6, NEK7, and likely other kinases contributes to hyperphosphorylation of NUP98 during mitosis
  • specifically regulates nucleus-cytoplasm transport of galectin-3, which is a beta-galactoside-binding protein affecting adhesion, migration, and cancer progression, and controls cell growth through the CTNNB1 signaling pathway in cancer cells
  • highly selective targeting of NUP98-fusion proteins to HOX cluster regions via prebound XPO1 induces the formation of higher order chromatin structures that causes aberrant HOX gene regulation (pMID: 26740045)
  • cell & other
    Other its phosphorylation presents a crucial step during nuclear pore complexes disassembly
    corresponding disease(s) AMLT2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    t(6;11)(q24.1;p15.5) resulting in a NUP98-CCDC28A fusion in acute megakaryoblastic leukemia
    tumoral fusion      
    fused with HOXD11 in t(5;11)(q35;p15.5) in acute myeloid leukemia
    tumoral fusion      
    fused with TOP1 in t(11;20)(p15;q11) in therapy related myelodysplastic syndrome, and with HOXA13 int (7;11) (p15;p15)
    tumoral fusion      
    fused with WHSC1L1 in t(8;11) (p11.2-p15) in acute myeloid leukemia, with ADD3 in t(10;11)(q25;p15) in T-cell acute lymphoblastic leukemia
    tumoral fusion      
    with DDX10 in de novo or therapy related myeloid malignancies,with HOXD13 or FN1 in translocation t(2;11) (q35;p15) or t(2;11) (q31;p15) in acute myelomonocytic leukemia with inv11(p15-q22)
    tumoral fusion      
    with PMX1 in translocation t(1;11) (q23;p15),with RAP1GDS1 in t(4;11)(q21;p15) in T cell acute lymphocitic leukemia,with PSIP1 in t (9;11) (p22;p15) in acute myeloid leukemia
    tumoral fusion      
    to KDM5A in acute lymphoblastic leukemia
    tumoral     --over  
    of NUP98-HOXA9 represses myeloid-specific gene transcription, thereby contributing to differentiation block in leukemogenesis
    tumoral fusion      
    NUP98-HOXD13 (NHD13) fusion in patients with myelodysplastic syndrome (MDS) and acute nonlymphocytic leukemia (ANLL)
    tumoral   translocation    
    t(3;11)(q12;p15)/NUP98-LNP1 fusion transcript in acute myeloid leukemia
    tumoral fusion      
    NUP98/NSD1 identifies a previously unrecognized group of young acute myeloid leukemia with a distinct HOX gene expression pattern
    tumoral fusion      
    POU1F1 is a fusion partner of NUP98 in acute myeloid leukemia with t(3;11)(p11;p15) (
    tumoral fusion      
    of NUP98 to KDM5A (t(11;15)(p15;q35)in acute megakaryoblastic leukemia (AMKL)
    Variant & Polymorphism
    Candidate gene
    Therapy target