Written | 2005-09 | Sabine Strehl |
Children's Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria |
This article is an update of : |
1998-01 | Jean-Loup Huret | |
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
Identity |
Alias (NCBI) | CAN | CAIN | D9S46E | NUP214 (nuclear pore complex protein 214 kDa) |
HGNC (Hugo) | NUP214 |
HGNC Alias symb | CAIN | CAN | D9S46E | N214 |
HGNC Alias name | "nuclear pore complex protein Nup214 | CAN protein, putative oncogene" |
HGNC Previous name | nucleoporin 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, |
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NUP214 (9q34.3) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. | |
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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 |
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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 |
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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 ] |
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 |
REVIEW articles | automatic search in PubMed |
Last year publications | automatic search in PubMed |
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