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FLASH GENE
Symbol NUP214 contributors: mct/npt - updated : 03-06-2015
HGNC name nucleoporin 214kDa
HGNC id 8064
Corresponding disease
CAN myelodysplastic syndrome, refractory anemia
Location 9q34.12      Physical location : 134.000.980 - 134.109.090
Synonym name
  • nucleoporin 214kD (CAIN)
  • CAN protein, putative oncogene
  • nuclear pore complex protein NUP214
  • Synonym symbol(s) D9S46E, CAN, KIAA0023, CAIN, RP11-544A12.7, MGC104525, N214, p250
    DNA
    TYPE functioning gene
    STRUCTURE 109.71 kb     36 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC375759 9q34.2 hypothetical protein LOC375759 AD-003 9q34.2 AD-003 protein ASB6 9q34.13 ankyrin repeat and SOCS box-containing 6 PRRX2 9q34.1 paired related homeobox 2 PTGES 9q34.3 prostaglandin E synthase TOR1B 9q34 torsin family 1, member B (torsin B) LOC51759 DYT1 9q34 dystonia 1, torsion (autosomal dominant; torsin A) USP20 9q34.12-q34.13 ubiquitin specific protease 20 FNBP1 9q34 formin binding protein 1 GPR107 9q34.2 G protein-coupled receptor 107 LOC389795 9 similar to GCDRP FREQ 9q34 frequenin homolog (Drosophila) LOC392395 9 similar to hemicentin DKFZp434P0216 9q34.2 hemicentin-2 LOC389796 9 similar to CDNA sequence BC034076 LOC389797 9 similar to cDNA sequence BC034076 ASS 9q34.13 argininosuccinate synthetase PRDM12 9q33-q34 PR domain containing 12 RRP4 9q34 homolog of Yeast RRP4 (ribosomal RNA processing 4), 3'-5'-exoribonuclease ABL1 9q34.13 v-abl Abelson murine leukemia viral oncogene homolog 1 P518 9q34.2 P518 precursor protein FIBCD1 9q34.2 fibrinogen C domain containing 1 LAMC3 9q31-q34 laminin, gamma 3 C9orf58 9q34.13-q34.3 chromosome 9 open reading frame 58 NUP214 9q34.1-q34.2 nucleoporin 214kDa C9orf59 9q34 chromosome 9 open reading frame 59 C9orf67 9q34.2-q34.3 chromosome 9 open reading frame 67 LOC389798 9 similar to mKIAA0515 protein POMT1 9q34.1 protein-O-mannosyltransferase 1 UCK1 9q34.2 protein-O-mannosyltransferase 1 GRF2 9q34.3 guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene) CRSP8 9q34.3 cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa NTNG2 9q34 netrin G2 KIAA0625 9q25.3-q34.1 netrin G2 TTF1 9q34.13 transcription termination factor, RNA polymerase I LOC389799 9 hypothetical gene supported by AK128819
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    36 - 7608 214 2090 - 1994 8108440
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
    Nervousnerve   highly
    Reproductivemale systemtestis  highly
     male systemprostate  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 450-AA N-terminal domain (NTD), which was shown to form a seven-bladed beta-propeller that interacts with the RNA-helicase Dbp5/DDX19, suggesting a role in mRNA export
  • a long, flexible linker that connects the NTD to a centrally located coiled-coil domain
  • containing the FXFG repeat
  • a C-terminal region, which contains numerous FG-repeats, C-terminal part interacting with the most prominent nuclear export receptor, the importin beta-family member CRM1
  • HOMOLOGY
    Homologene
    FAMILY
  • FG-repeat-containing nucleoporins family
  • CATEGORY structural protein , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus
    intracellular,nuclear envelope,pore
    text
  • cytoplasmic face of nucleopore
  • localizes to the cytoplasmic side of the nuclear pore complex as part of the cytoplasmic filaments (Napetschnig 2009)
  • exogenously expressed full-length NUP214 was localized predominantly at the nuclear envelope, suggesting its integration in the nuclear pore complex (NPC)
  • localized on the spindles together with NUP214 during mitosis (Hashizume 2010)
  • found at the cytoplasmic side of the nuclear pore complex (NPC)
  • basic FUNCTION
  • may serve as a docking site in the receptor mediated import of substrates across the nuclear pore complex (NPC)
  • specific role of NUP214 in protein export is furthered by the biochemical properties of a high-affinity complex containing NUP214, CRM1, RanGTP, and an export cargo
  • NUP214 interacts with VDR and modulates its function as a transcription factor
  • DEK-NUP214 fusion protein appears defective, at least in part, in assisting transcriptional regulation of certain genes that might be essential for normal differentiation of hematopoietic cells (Sawatsubashi 2010)
  • implicated in nuclear protein export rather than import
  • NUP62 and nucleoporin 214 (NUP214) are differentially distributed between nuclear pore complexes on the flattened surfaces and peripheral rim of the nucleus
  • CELLULAR PROCESS cell cycle
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text nucleocytoplasmic
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of nuclear pore complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • XPO1
  • NUP88
  • interacting with DDX19B (binding of NUP214 is compatible with only the RNA-free form of DDX19B) (von Moeller 2009)
  • interaction between VDR and the C-terminus of NUP214 containing a cluster of the phenylalanine-glycine (FG) repeat
  • nucleoporin that is found at the cytoplasmic side of the nuclear pore complex (NPC), interacting with both import and export receptors
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CAN
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    with DEK in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome
    tumoral fusion      
    with ABL1 in T-cell acute lymphoblastic leukemia
    tumoral fusion      
    SET is fused to the C terminus of NUP214, occuring in certain forms of acute myeloid leukemia and inhibiting CRM1-dependent nuclear export
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS