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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

Other aliasCAN
CAIN
D9S46E
NUP214 (nuclear pore complex protein 214 kDa)
LocusID (NCBI) 8021
Atlas_Id 29
Location 9q34.13  [Link to chromosome band 9q34]
Location_base_pair Starts at and ends at bp from pter
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 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) [ 29 ]
  NUP214/ABL1 fusion gene on amplified episomes
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(5;9)(q35;q34) SQSTM1/NUP214
t(7;9)(p22;q34) NUP214/RAC1
t(7;9)(p22;q34) NUP214/RAC1
r(9)(q34q34):t(9;9)(q34;q34) NUP214/ABL1
NUP214/ABL1 (9q34)
del(9)(q34q34)|t(9;9)(q34;q34) SET/NUP214
t(9;22)(q34;q11) NUP214/XKR3
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(5;9)(q35;q34) SQSTM1/NUP214
t(7;9)(p22;q34) NUP214/RAC1
t(7;9)(p22;q34) NUP214/RAC1
r(9)(q34q34):t(9;9)(q34;q34) NUP214/ABL1
NUP214/ABL1 (9q34)
del(9)(q34q34)|t(9;9)(q34;q34) SET/NUP214
t(9;22)(q34;q11) NUP214/XKR3


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  t(7;9)(q34;q34) NUP214/BRAF
GPSM1/NUP214 (9q34)
NOTCH1/NUP214 (9q34)
NUP214/AIF1L (9q34)
POMT1/NUP214 (9q34)
PRRC2B/NUP214 (9q34)


External links

Nomenclature
Cards
AtlasCANID29.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)8021
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Oct 18 17:30:30 CEST 2018

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jlhuret@AtlasGeneticsOncology.org.