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NUP214 (nucleoporin 214kDa)

Written2005-09Sabine Strehl
Children's Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria
This article is an update of :
1998-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)CAN
CAIN
D9S46E
NUP214 (nuclear pore complex protein 214 kDa)
HGNC (Hugo) NUP214
HGNC Alias symbCAIN
CAN
D9S46E
N214
HGNC Alias namenuclear pore complex protein Nup214
 CAN protein, putative oncogene
HGNC Previous namenucleoporin 214kD (CAIN)
 nucleoporin 214kDa
LocusID (NCBI) 8021
Atlas_Id 29
Location 9q34.13  [Link to chromosome band 9q34]
Location_base_pair Starts at 131125586 and ends at 131234663 bp from pter ( according to GRCh38/hg38-Dec_2013)  [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.
 
  NUP214 (nucleoporin 214kDa) Hybridization with SureFISH NUP214 BA probe (Kreatech, Leica Biosystems Inc., US) showing the NUP214 gene on 9q34 - Courtesy Adriana Zamecnikova.
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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)::BRAF (7q34)NUP214 (9q34.13)::DEK (6p22.3)NUP214 (9q34.13)::INS-IGF2 (11p15.5)
NUP214 (9q34.13)::NUP214 (9q34.13)NUP214 (9q34.13)::RAC1 (7p22.1)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 -->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 /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 ]
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) [ 12 ]
  t(10;14)(q24;q11) TLX1::TRD::t(7;10)(q34;q24) TRB/HOX11
NUP214::ABL1 fusion gene on amplified episomes
Classification of myelodysplastic syndromes 2015
Pediatric T-Cell Acute Lymphoblastic Leukemia
t(5;9)(q35;q34) SQSTM1::NUP214
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)
t(7;9)(p22;q34) NUP214::RAC1
NUP214::ABL1 (9q34)
t(9;22)(q34;q11) NUP214::XKR3

External links

 

Nomenclature
HGNC (Hugo)NUP214   8064
Cards
AtlasCANID29
Entrez_Gene (NCBI)NUP214    nucleoporin 214
AliasesCAIN; CAN; IIAE9
GeneCards (Weizmann)NUP214
Ensembl hg19 (Hinxton)ENSG00000126883 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000126883 [Gene_View]  ENSG00000126883 [Sequence]  chr9:131125586-131234663 [Contig_View]  NUP214 [Vega]
ICGC DataPortalENSG00000126883
TCGA cBioPortalNUP214
AceView (NCBI)NUP214
Genatlas (Paris)NUP214
SOURCE (Princeton)NUP214
Genetics Home Reference (NIH)NUP214
Genomic and cartography
GoldenPath hg38 (UCSC)NUP214  -     chr9:131125586-131234663 +  9q34.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NUP214  -     9q34.13   [Description]    (hg19-Feb_2009)
GoldenPathNUP214 - 9q34.13 [CytoView hg19]  NUP214 - 9q34.13 [CytoView hg38]
ImmunoBaseENSG00000126883
Genome Data Viewer NCBINUP214 [Mapview hg19]  
OMIM114350   601626   613065   618426   
Gene and transcription
Genbank (Entrez)AA516455 AB159230 AJ420413 AK093773 AK302676
RefSeq transcript (Entrez)NM_001318324 NM_001318325 NM_005085
Consensus coding sequences : CCDS (NCBI)NUP214
Gene ExpressionNUP214 [ NCBI-GEO ]   NUP214 [ EBI - ARRAY_EXPRESS ]   NUP214 [ SEEK ]   NUP214 [ MEM ]
Gene Expression Viewer (FireBrowse)NUP214 [ Firebrowse - Broad ]
GenevisibleExpression of NUP214 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8021
GTEX Portal (Tissue expression)NUP214
Human Protein AtlasENSG00000126883-NUP214 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusP35658
Domains : Interpro (EBI)Nucleoporin    Nup214_FG    WD40/YVTN_repeat-like_dom_sf    WD40_repeat   
Domain families : Pfam (Sanger)Nup214_FG (PF18617)   
Domain families : Pfam (NCBI)pfam18617   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)NUP214
PDB (RSDB)2OIT    3FHC    3FMO    3FMP    5DIS   
PDB Europe2OIT    3FHC    3FMO    3FMP    5DIS   
PDB (PDBSum)2OIT    3FHC    3FMO    3FMP    5DIS   
PDB (IMB)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
AlphaFold pdb e-kbP35658   
Human Protein Atlas [tissue]ENSG00000126883-NUP214 [tissue]
HPRD00258
Protein Interaction databases
DIP (DOE-UCLA)P35658
IntAct (EBI)P35658
Complex Portal (EBI)P35658 CPX-873 Nuclear pore complex
BioGRIDNUP214
STRING (EMBL)NUP214
ZODIACNUP214
Ontologies - Pathways
QuickGOP35658
Ontology : AmiGOmitotic cell cycle  nuclear export signal receptor activity  protein binding  nuclear pore  nucleoplasm  cytosol  regulation of glycolytic process  RNA export from nucleus  mRNA export from nucleus  mRNA export from nucleus  tRNA export from nucleus  protein import into nucleus  protein export from nucleus  nuclear localization sequence binding  viral process  protein sumoylation  structural constituent of nuclear pore  viral life cycle  viral transcription  regulation of mRNA stability  host cell  regulation of nucleocytoplasmic transport  regulation of cell cycle  regulation of gene silencing by miRNA  intracellular transport of virus  regulation of cellular response to heat  cytoplasmic side of nuclear pore  
Ontology : EGO-EBImitotic cell cycle  nuclear export signal receptor activity  protein binding  nuclear pore  nucleoplasm  cytosol  regulation of glycolytic process  RNA export from nucleus  mRNA export from nucleus  mRNA export from nucleus  tRNA export from nucleus  protein import into nucleus  protein export from nucleus  nuclear localization sequence binding  viral process  protein sumoylation  structural constituent of nuclear pore  viral life cycle  viral transcription  regulation of mRNA stability  host cell  regulation of nucleocytoplasmic transport  regulation of cell cycle  regulation of gene silencing by miRNA  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
Homologs : HomoloGeneNUP214
Homology/Alignments : Family Browser (UCSC)NUP214
Gene fusions - Rearrangements
Fusion : MitelmanDEK::NUP214 [6p22.3/9q34.13]  
Fusion : MitelmanGPSM1::NUP214 [9q34.3/9q34.13]  
Fusion : MitelmanNOTCH1::NUP214 [9q34.3/9q34.13]  
Fusion : MitelmanNUP214::ABL1 [9q34.13/9q34.12]  
Fusion : MitelmanNUP214::AIF1L [9q34.13/9q34.12]  
Fusion : MitelmanNUP214::XKR3 [9q34.13/22q11.1]  
Fusion : MitelmanPOMT1::NUP214 [9q34.13/9q34.13]  
Fusion : MitelmanPRRC2B::NUP214 [9q34.13/9q34.13]  
Fusion : MitelmanSET::NUP214 [9q34.11/9q34.13]  
Fusion : MitelmanSQSTM1::NUP214 [5q35.3/9q34.13]  
Fusion : COSMICSET [9q34.11]  -  NUP214 [9q34.13]  [fusion_2323]  [fusion_2325]  [fusion_2326]  [fusion_2327]  [fusion_2328]  [fusion_2330]  [fusion_2331]  
[fusion_2333]  [fusion_2357]  
Fusion Cancer (Beijing)NUP214 [9q34.13]  -  XKR3 [22q11.1]  [FUSC001410]  [FUSC001410]
Fusion Cancer (Beijing)XKR3 [22q11.1]  -  NUP214 [9q34.13]  [FUSC001412]  [FUSC001412]  [FUSC001412]
Fusion : QuiverNUP214
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNUP214 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NUP214
dbVarNUP214
ClinVarNUP214
MonarchNUP214
1000_GenomesNUP214 
Exome Variant ServerNUP214
GNOMAD BrowserENSG00000126883
Varsome BrowserNUP214
ACMGNUP214 variants
VarityP35658
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]  
Somatic Mutations in Cancer : COSMIC3DNUP214
Mutations and Diseases : HGMDNUP214
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaNUP214
DgiDB (Drug Gene Interaction Database)NUP214
DoCM (Curated mutations)NUP214
CIViC (Clinical Interpretations of Variants in Cancer)NUP214
OncoKBNUP214
NCG (London)NUP214
Cancer3DNUP214
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114350    601626    613065    618426   
Orphanet22869   
DisGeNETNUP214
MedgenNUP214
Genetic Testing Registry NUP214
NextProtP35658 [Medical]
GENETestsNUP214
Target ValidationNUP214
Huge Navigator NUP214 [HugePedia]
ClinGenNUP214
Clinical trials, drugs, therapy
MyCancerGenomeNUP214
Protein Interactions : CTDNUP214
Pharm GKB GenePA31851
PharosP35658
Clinical trialNUP214
Miscellaneous
canSAR (ICR)NUP214
HarmonizomeNUP214
DataMed IndexNUP214
Probes
Litterature
PubMed147 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXNUP214
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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