Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

NUP214 (nucleoporin 214kDa)

Identity

Other namesCAN
CAIN
D9S46E
NUP214 (nuclear pore complex protein 214 kDa)
HGNC (Hugo) NUP214
Location 9q34.3
Location_base_pair Starts at 132990802 and ends at 133098912 bp from pter ( according to hg18-Mar_2006)  [Mapping]
Local_order from centromere to telomere: SET, , NUP214 (alias CAN), NOTCH1 (alias TAN1)
 
  NUP214 (9q34.3) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

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

Entity t(6;9)(p23;q34) -->DEK - NUP214
Disease M2, M4 ANLL 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

 

External links

Nomenclature
HGNC (Hugo)NUP214   8064
Entrez_Gene (NCBI)NUP214  8021  nucleoporin 214kDa
Cards
AtlasCAN
GeneCards (Weizmann)NUP214
Ensembl (Hinxton)ENSG00000126883 [Gene_View]  NUP214 [Vega]
AceView (NCBI)NUP214
Genatlas (Paris)NUP214
euGene (Indiana)8021
SOURCE (Stanford)NM_005085
Genomic and cartography
GoldenPath (UCSC)NUP214  -  9q34.3   chr9:132990802-133098912 +  9q34   [Description]    (hg18-Mar_2006)
EnsemblNUP214 - 9q34 [CytoView]
Mapping of homologs : NCBINUP214 [Mapview]
OMIM114350   601626   
Gene and transcription
Gene : Genbank (Entrez)AB159230 AJ420413 AK302676 AK307573 AK310406
Reference sequence (RefSeq transcript) :SRSNM_005085
Reference transcript : EntrezNM_005085
RefSeq genomic : SRSAC_000052 AC_000141 NC_000009 NT_035014 NW_001839240 NW_924573
RefSeq genomic : EntrezAC_000052 AC_000141 NC_000009 NT_035014 NW_001839240 NW_924573
Consensus coding sequences : CCDS NCBINUP214
Cluster EST : UnigeneHs.654530 [ SRS ] Hs.654530 [ NCBI ]
Alternative Splicing : Fast-db (Paris)16244
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP35658 (SRS) P35658 (Expasy) P35658 (Uniprot)
With graphics : InterProP35658
Splice isoforms : VarSplice FASTAP35658(VarSplice FASTA)
Domains : Interpro (SRS)WD40/YVTN_repeat-like    WD40_repeat   
Domains : Interpro (EBI)WD40/YVTN_repeat-like    WD40_repeat   
Related proteins : CluSTrP35658
Domain families : Pfam SRS
Domain families : Pfam Sanger
Domain families : Pfam NCBI
Domain families : Smart EMBLWD40 (SM00320)
Blocks (Seattle)P35658
Crystal structure of protein : PDB SRS2OIT   
Crystal structure of protein : PDBSum2OIT   
Crystal structure of protein : IMB2OIT   
Crystal structure of protein : PDB RSDB2OIT   
HPRD00258
Protein Interaction databases
DIP (DOE-UCLA)P35658
IntAct (EBI)P35658
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBINUP214
SNP : GeneSNP UtahNUP214
SNP : HGBaseNUP214
Genetic variants : HAPMAPNUP214
Somatic Mutations in Cancer : COSMICNUP214 
Translocation Breakpoints in Cancer : TICdbNUP214 
Mutations and Diseases : HGMDNUP214
Hereditary diseases : OMIM114350    601626   
Hereditary diseases : GENETests114350    601626   
Diseases : Genetic AssociationNUP214
General knowledge
Homologs : HomoloGeneNUP214
Homology/Alignments : Family Browser UCSCNUP214
Phylogenetic Trees/Animal Genes : TreeFamNUP214
Chemical/Protein Interactions : CTD8021
Keywords Ontology : AmiGOtransporter activity  protein binding  nucleus  nuclear pore  cytosol  protein export from nucleus  protein transport  mRNA transport  intracellular protein transmembrane transport  
Keywords Ontology : EGO-EBItransporter activity  protein binding  nucleus  nuclear pore  cytosol  protein export from nucleus  protein transport  mRNA transport  intracellular protein transmembrane transport  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesNUP214 Related clones (RZPD - Berlin)
Literature
PubMed44 Pubmed reference(s) in Entrez
PubGeneNUP214

Bibliography

Can, a putative oncogene associated with myeloid leukemogenesis, may be activated by fusion of its 3' half to different genes: characterization of the set gene.
von Lindern M, van Baal S, Wiegant J, Raap A, Hagemeijer A, Grosveld G
Molecular and cellular biology. 1992 ; 12 (8) : 3346-3355.
PMID 1630450
 
Characterization of the translocation breakpoint sequences of two DEK-CAN fusion genes present in t(6;9) acute myeloid leukemia and a SET-CAN fusion gene found in a case of acute undifferentiated leukemia.
von Lindern M, Breems D, van Baal S, Adriaansen H, Grosveld G
Genes, chromosomes & cancer. 1992 ; 5 (3) : 227-234.
PMID 1384675
 
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
 
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
 
Relocation of the carboxyterminal part of CAN from the nuclear envelope to the nucleus as a result of leukemia-specific chromosome rearrangements.
Fornerod M, Boer J, van Baal S, Jaeglˆ© M, von Lindern M, Murti KG, Davis D, Bonten J, Buijs A, Grosveld G
Oncogene. 1995 ; 10 (9) : 1739-1748.
PMID 7753551
 
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
 
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 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
 
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
 
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
 
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
 
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
 
DEK-CAN molecular monitoring of myeloid malignancies could aid therapeutic stratification.
Garˆßon 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-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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written01-1998Jean-Loup Huret
Updated09-2005Sabine Strehl

Citation

This paper should be referenced as such :
Huret JL . NUP214 (nucleoporin 214kDa). Atlas Genet Cytogenet Oncol Haematol. January 1998 .
URL : http://AtlasGeneticsOncology.org/Genes/CAN.html
Strehl S . NUP214 (nucleoporin 214kDa). Atlas Genet Cytogenet Oncol Haematol. September 2005 .
URL : http://AtlasGeneticsOncology.org/Genes/CAN.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 16:41:01 CEST 2009

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.