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NUP214 (nucleoporin 214kDa)

Written1998-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2005-09Sabine Strehl
Children's Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria

(Note : for Links provided by Atlas : click)

Identity

Alias_namesnucleoporin 214kD (CAIN)
nucleoporin 214kDa
Alias_symbol (synonym)CAIN
CAN
D9S46E
N214
Other aliasNUP214 (nuclear pore complex protein 214 kDa)
HGNC (Hugo) NUP214
LocusID (NCBI) 8021
Atlas_Id 29
Location 9q34.13  [Link to chromosome band 9q34]
Location_base_pair Starts at 131125561 and ends at 131234670 bp from pter ( according to hg19-Feb_2009)  [Mapping NUP214.png]
Local_order from centromere to telomere: SET, , NUP214 (alias CAN), NOTCH1 (alias TAN1)
 
  NUP214 (9q34.3) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2016)
ABL1 (9q34.12) / NUP214 (9q34.13)CPB2 (13q14.13) / NUP214 (9q34.13)DEK (6p22.3) / NUP214 (9q34.13)
GPSM1 (9q34.3) / NUP214 (9q34.13)NOTCH1 (9q34.3) / NUP214 (9q34.13)NUP214 (9q34.13) / ABL1 (9q34.12)
NUP214 (9q34.13) / AGGF1 (5q13.3)NUP214 (9q34.13) / AIF1L (9q34.12)NUP214 (9q34.13) / ARHGAP26 (5q31.3)
NUP214 (9q34.13) / DEK (6p22.3)NUP214 (9q34.13) / INS-IGF2 (11p15.5)NUP214 (9q34.13) / NUP214 (9q34.13)
NUP214 (9q34.13) / SET (9q34.11)NUP214 (9q34.13) / XKR3 (22q11.1)POMT1 (9q34.13) / NUP214 (9q34.13)
PRH1-PRR4 (12p13.2) / NUP214 (9q34.13)PRRC2B (9q34.13) / NUP214 (9q34.13)SET (9q34.11) / NUP214 (9q34.13)
SQSTM1 (5q35.3) / NUP214 (9q34.13)TAF1 (Xq13.1) / NUP214 (9q34.13)XKR3 (22q11.1) / NUP214 (9q34.13)
Note see also The nuclear pore complex: structure and function

DNA/RNA

Description 36 exons encompassing about 108 kb of genomic DNA
Transcription 6.6 kb mRNA

Protein

Description 2090 amino acids; 214 kDa; dimerization domains (2 leucine zippers) and FG repeats; forms homodimers
Expression thymus, bone marrow, spleen, kidney, testis, brain; apparently not in other tissues
Localisation nuclear membrane; cytoplasmic face of nucleopore
Function Nucleoporins are the main components of the nuclear pore complex(NPC) in eukaryotic cells. The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. NUP214 may serve as a docking site in the receptor mediated import of substrates across the NPC, and plays a role in nuclear protein import, mRNA export, and cell cycle progression; interacts with DDX19, NUP88, and XPO1.
Homology NUP214 is a member of the FG-repeat-containing nucleoporins

Implicated in

Note
  
Entity t(6;9)(p23;q34) -->DEK - NUP214
Disease M2, M4 AML or MDS
Prognosis remission difficult to obtain
Cytogenetics this chromosome anomaly may be over looked
Hybrid/Mutated Gene 5' DEK - 3' NUP214; chromosome 6 breakpoint clusters in a single intron
Abnormal Protein head to tail DEK/NUP214 fusion protein (the alternative SET/NUP214 is exceptional); almost the entire DEK protein is fused to the C-terminal two-thirds of the NUP214 protein; nuclear localization
  
  
Entity t(9;9)(q34;q34)/AUL --> SET-NUP214
Note the only SET-NUP214 positive case described so far had a normal karyotype; on the cytogenetic level it is unclear whether the SET-NUP214 fusion is generated by a t(9;9)(q34;q34) or an interstitial deletion at 9q34; the latter is supported by the centromere-telomere orientation of both genes and their local order: centromere ' SET - NUP214' telomere
Disease only one case to date; acute undifferentiated leukemia
Cytogenetics may be overlooked
Hybrid/Mutated Gene 5' SET 3' NUP214
  
  
Entity amplification --> NUP214-ABL1
Disease 5-6% of childhood and adult T-ALL
Prognosis aggressive course of disease
Cytogenetics found in T-ALL with various karyotypes
Hybrid/Mutated Gene episomal amplification of the 5' NUP214 3' ABL1 fusion gene
  

Breakpoints

 

Bibliography

NUP214-ABL1 amplification in t(5;14)/HOX11L2-positive ALL present with several forms and may have a prognostic significance.
Ballerini P, Busson M, Fasola S, van den Akker J, Lapillonne H, Romana SP, Marynen P, Bernard OA, Landman-Parker J, Berger R
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (3) : 468-470.
PMID 15674415
 
Function and assembly of nuclear pore complex proteins.
Bodoor K, Shaikh S, Enarson P, Chowdhury S, Salina D, Raharjo WH, Burke B
Biochemistry and cell biology = Biochimie et biologie cellulaire. 1999 ; 77 (4) : 321-329.
PMID 10546895
 
Overexpression of the nucleoporin CAN/NUP214 induces growth arrest, nucleocytoplasmic transport defects, and apoptosis.
Boer J, Bonten-Surtel J, Grosveld G
Molecular and cellular biology. 1998 ; 18 (3) : 1236-1247.
PMID 9488438
 
The nucleoporin CAN/Nup214 binds to both the cytoplasmic and the nucleoplasmic sides of the nuclear pore complex in overexpressing cells.
Boer JM, van Deursen JM, Croes HJ, Fransen JA, Grosveld GC
Experimental cell research. 1997 ; 232 (1) : 182-185.
PMID 9141635
 
Interaction of cellular proteins with the leukemia specific fusion proteins DEK-CAN and SET-CAN and their normal counterpart, the nucleoporin CAN.
Fornerod M, Boer J, van Baal S, Morreau H, Grosveld G
Oncogene. 1996 ; 13 (8) : 1801-1808.
PMID 8895527
 
DEK-CAN molecular monitoring of myeloid malignancies could aid therapeutic stratification.
Garçon L, Libura M, Delabesse E, Valensi F, Asnafi V, Berger C, Schmitt C, Leblanc T, Buzyn A, Macintyre E
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (8) : 1338-1344.
PMID 15973457
 
Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia.
Graux C, Cools J, Melotte C, Quentmeier H, Ferrando A, Levine R, Vermeesch JR, Stul M, Dutta B, Boeckx N, Bosly A, Heimann P, Uyttebroeck A, Mentens N, Somers R, MacLeod RA, Drexler HG, Look AT, Gilliland DG, Michaux L, Vandenberghe P, Wlodarska I, Marynen P, Hagemeijer A
Nature genetics. 2004 ; 36 (10) : 1084-1089.
PMID 15361874
 
The human CAN protein, a putative oncogene product associated with myeloid leukemogenesis, is a nuclear pore complex protein that faces the cytoplasm.
Kraemer D, Wozniak RW, Blobel G, Radu A
Proceedings of the National Academy of Sciences of the United States of America. 1994 ; 91 (4) : 1519-1523.
PMID 8108440
 
Aberrant intracellular localization of SET-CAN fusion protein, associated with a leukemia, disorganizes nuclear export.
Saito S, Miyaji-Yamaguchi M, Nagata K
International journal of cancer. Journal international du cancer. 2004 ; 111 (4) : 501-507.
PMID 15239126
 
Fusion of NUP214 to ABL1 on amplified episomes in T-ALL--implications for treatment.
Stergianou K, Fox C, Russell NH
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (9) : 1680-1681.
PMID 16015385
 
G2 arrest and impaired nucleocytoplasmic transport in mouse embryos lacking the proto-oncogene CAN/Nup214.
van Deursen J, Boer J, Kasper L, Grosveld G
The EMBO journal. 1996 ; 15 (20) : 5574-5583.
PMID 8896451
 
The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA.
von Lindern M, Fornerod M, van Baal S, Jaegle M, de Wit T, Buijs A, Grosveld G
Molecular and cellular biology. 1992 ; 12 (4) : 1687-1697.
PMID 1549122
 

Citation

This paper should be referenced as such :
Strehl, S
NUP214 (nucleoporin 214kDa)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):1-2.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/CANID29.html
History of this paper:
Jean-Loup Huret. CAN (CAN protein, putative oncogene). Atlas Genet Cytogenet Oncol Haematol. 1998;2(1):2-2.
http://documents.irevues.inist.fr/bitstream/handle/2042/32089/01-1998-CANID29.pdf


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 6 ]
  NUP214/ABL1 fusion gene on amplified episomes
Classification of myelodysplastic syndromes 2015
t(6;9)(p22;q34) DEK/NUP214
t(6;9)(p22;q34) DEK/NUP214 in Childhood
t(9;9)(q34;q34) SET/NUP214
T-lineage acute lymphoblastic leukemia (T-ALL)


External links

Nomenclature
HGNC (Hugo)NUP214   8064
Cards
AtlasCANID29
Entrez_Gene (NCBI)NUP214  8021  nucleoporin 214
AliasesCAIN; CAN
GeneCards (Weizmann)NUP214
Ensembl hg19 (Hinxton)ENSG00000126883 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000126883 [Gene_View]  chr9:131125561-131234670 [Contig_View]  NUP214 [Vega]
ICGC DataPortalENSG00000126883
TCGA cBioPortalNUP214
AceView (NCBI)NUP214
Genatlas (Paris)NUP214
WikiGenes8021
SOURCE (Princeton)NUP214
Genetics Home Reference (NIH)NUP214
Genomic and cartography
GoldenPath hg38 (UCSC)NUP214  -     chr9:131125561-131234670 +  9q34.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NUP214  -     9q34.13   [Description]    (hg19-Feb_2009)
EnsemblNUP214 - 9q34.13 [CytoView hg19]  NUP214 - 9q34.13 [CytoView hg38]
Mapping of homologs : NCBINUP214 [Mapview hg19]  NUP214 [Mapview hg38]
OMIM114350   613065   
Gene and transcription
Genbank (Entrez)AA516455 AB159230 AJ420413 AK093773 AK302676
RefSeq transcript (Entrez)NM_001318324 NM_001318325 NM_005085
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NUP214
Cluster EST : UnigeneHs.654530 [ NCBI ]
CGAP (NCI)Hs.654530
Alternative Splicing GalleryENSG00000126883
Gene ExpressionNUP214 [ NCBI-GEO ]   NUP214 [ EBI - ARRAY_EXPRESS ]   NUP214 [ SEEK ]   NUP214 [ MEM ]
Gene Expression Viewer (FireBrowse)NUP214 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8021
GTEX Portal (Tissue expression)NUP214
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35658   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35658  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35658
Splice isoforms : SwissVarP35658
PhosPhoSitePlusP35658
Domains : Interpro (EBI)Nucleoporin    WD40/YVTN_repeat-like_dom    WD40_repeat   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)NUP214
DMDM Disease mutations8021
Blocks (Seattle)NUP214
PDB (SRS)2OIT    3FHC    3FMO    3FMP    5DIS   
PDB (PDBSum)2OIT    3FHC    3FMO    3FMP    5DIS   
PDB (IMB)2OIT    3FHC    3FMO    3FMP    5DIS   
PDB (RSDB)2OIT    3FHC    3FMO    3FMP    5DIS   
Structural Biology KnowledgeBase2OIT    3FHC    3FMO    3FMP    5DIS   
SCOP (Structural Classification of Proteins)2OIT    3FHC    3FMO    3FMP    5DIS   
CATH (Classification of proteins structures)2OIT    3FHC    3FMO    3FMP    5DIS   
SuperfamilyP35658
Human Protein AtlasENSG00000126883
Peptide AtlasP35658
HPRD00258
IPIIPI00183294   IPI00900318   IPI00900325   IPI00900331   IPI00646361   IPI00979762   IPI00983618   IPI01008834   IPI00983315   IPI01018881   IPI00976405   IPI00983837   IPI00980338   IPI00976970   IPI00977545   
Protein Interaction databases
DIP (DOE-UCLA)P35658
IntAct (EBI)P35658
FunCoupENSG00000126883
BioGRIDNUP214
STRING (EMBL)NUP214
ZODIACNUP214
Ontologies - Pathways
QuickGOP35658
Ontology : AmiGOnuclear export signal receptor activity  protein binding  nucleus  nucleoplasm  cytosol  focal adhesion  RNA export from nucleus  mRNA export from nucleus  tRNA export from nucleus  protein import into nucleus  protein export from nucleus  mitotic nuclear envelope disassembly  nuclear localization sequence binding  regulation of glucose transport  viral process  protein sumoylation  structural constituent of nuclear pore  viral transcription  gene silencing by RNA  intracellular membrane-bounded organelle  regulation of mRNA stability  nuclear pore central transport channel  nuclear pore nuclear basket  regulation of cell cycle  intracellular transport of virus  regulation of cellular response to heat  cytoplasmic side of nuclear pore  
Ontology : EGO-EBInuclear export signal receptor activity  protein binding  nucleus  nucleoplasm  cytosol  focal adhesion  RNA export from nucleus  mRNA export from nucleus  tRNA export from nucleus  protein import into nucleus  protein export from nucleus  mitotic nuclear envelope disassembly  nuclear localization sequence binding  regulation of glucose transport  viral process  protein sumoylation  structural constituent of nuclear pore  viral transcription  gene silencing by RNA  intracellular membrane-bounded organelle  regulation of mRNA stability  nuclear pore central transport channel  nuclear pore nuclear basket  regulation of cell cycle  intracellular transport of virus  regulation of cellular response to heat  cytoplasmic side of nuclear pore  
Pathways : BIOCARTAMechanism of Protein Import into the Nucleus [Genes]   
Pathways : KEGGRNA transport    Epstein-Barr virus infection   
REACTOMEP35658 [protein]
REACTOME PathwaysR-HSA-6784531 [pathway]   
NDEx NetworkNUP214
Atlas of Cancer Signalling NetworkNUP214
Wikipedia pathwaysNUP214
Orthology - Evolution
OrthoDB8021
GeneTree (enSembl)ENSG00000126883
Phylogenetic Trees/Animal Genes : TreeFamNUP214
HOVERGENP35658
HOGENOMP35658
Homologs : HomoloGeneNUP214
Homology/Alignments : Family Browser (UCSC)NUP214
Gene fusions - Rearrangements
Fusion : MitelmanDEK/NUP214 [6p22.3/9q34.13]  [t(6;9)(p22;q34)]  
Fusion : MitelmanGPSM1/NUP214 [9q34.3/9q34.13]  [t(9;9)(q34;q34)]  
Fusion : MitelmanNOTCH1/NUP214 [9q34.3/9q34.13]  [t(9;9)(q34;q34)]  
Fusion : MitelmanNUP214/ABL1 [9q34.13/9q34.12]  [r(9)(q34q34)]  [t(9;9)(q34;q34)]  
Fusion : MitelmanNUP214/AIF1L [9q34.13/9q34.12]  [t(9;9)(q34;q34)]  
Fusion : MitelmanNUP214/XKR3 [9q34.13/22q11.1]  [t(9;22)(q34;q11)]  
Fusion : MitelmanPOMT1/NUP214 [9q34.13/9q34.13]  [t(9;9)(q34;q34)]  
Fusion : MitelmanPRRC2B/NUP214 [9q34.13/9q34.13]  [t(9;9)(q34;q34)]  
Fusion : MitelmanSET/NUP214 [9q34.11/9q34.13]  [del(9)(q34)]  [del(9)(q34q34)]  
[t(9;9)(q34;q34)]  
Fusion : MitelmanSQSTM1/NUP214 [5q35.3/9q34.13]  [t(5;9)(q35;q34)]  
Fusion : COSMICSET [9q34.11]  -  NUP214 [9q34.13]  [fusion_2323]  [fusion_2324]  [fusion_2325]  [fusion_2326]  [fusion_2327]  [fusion_2328]  [fusion_2329]  
[fusion_2330]  [fusion_2331]  [fusion_2333]  [fusion_2357]  
Fusion: TCGAGPSM1 9q34.3 NUP214 9q34.13 LGG
Fusion: TCGANUP214 9q34.13 AIF1L 9q34.12 BRCA
Fusion: TCGAPOMT1 9q34.13 NUP214 9q34.13 LUAD
Fusion: TCGAPRRC2B 9q34.13 NUP214 9q34.13 BRCA LUAD
Fusion : TICdbNUP214 [9q34.13]  -  ABL1 [9q34.12]
Fusion : TICdbNUP214 [9q34.13]  -  DEK [6p22.3]
Fusion : TICdbSET [9q34.11]  -  NUP214 [9q34.13]
Fusion Cancer (Beijing)NUP214 [9q34.13]  -  XKR3 [22q11.1]  [FUSC001410]  [FUSC001410]
Fusion Cancer (Beijing)XKR3 [22q11.1]  -  NUP214 [9q34.13]  [FUSC001412]  [FUSC001412]  [FUSC001412]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNUP214 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NUP214
dbVarNUP214
ClinVarNUP214
1000_GenomesNUP214 
Exome Variant ServerNUP214
ExAC (Exome Aggregation Consortium)NUP214 (select the gene name)
Genetic variants : HAPMAP8021
Genomic Variants (DGV)NUP214 [DGVbeta]
DECIPHERNUP214 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNUP214 
Mutations
ICGC Data PortalNUP214 
TCGA Data PortalNUP214 
Broad Tumor PortalNUP214
OASIS PortalNUP214 [ Somatic mutations - Copy number]
Cancer Gene: CensusNUP214 
Somatic Mutations in Cancer : COSMICNUP214  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNUP214
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NUP214
DgiDB (Drug Gene Interaction Database)NUP214
DoCM (Curated mutations)NUP214 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NUP214 (select a term)
intoGenNUP214
NCG5 (London)NUP214
Cancer3DNUP214(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114350    613065   
Orphanet22869   
MedgenNUP214
Genetic Testing Registry NUP214
NextProtP35658 [Medical]
TSGene8021
GENETestsNUP214
Target ValidationNUP214
Huge Navigator NUP214 [HugePedia]
snp3D : Map Gene to Disease8021
BioCentury BCIQNUP214
ClinGenNUP214
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8021
Chemical/Pharm GKB GenePA31851
Clinical trialNUP214
Miscellaneous
canSAR (ICR)NUP214 (select the gene name)
Probes
Litterature
PubMed100 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNUP214
EVEXNUP214
GoPubMedNUP214
iHOPNUP214
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:22:16 CEST 2017

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