NUP214 (nucleoporin 214kDa)

Identity

Other names	CAN
	CAIN
	D9S46E
	NUP214 (nuclear pore complex protein 214 kDa)
Hugo	NUP214
Location	9q34.3
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
Hugo	NUP214
GDB	NUP214
Entrez_Gene	NUP214  8021  nucleoporin 214kDa
	Cards
Atlas	CAN
GeneCards	NUP214
Ensembl	NUP214 [Search_View]   ENSG00000126883 [Gene_View]
Genatlas	NUP214
GeneLynx	NUP214
eGenome	NUP214
euGene	8021
	Genomic and cartography
GoldenPath	NUP214  -  9q34.3   chr9:132990802-133098911 +  9q34.1   [Description]    (hg18-Mar_2006)
Ensembl	NUP214 - 9q34.1 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	NUP214
	Gene and transcription
Genbank	AB159230 [ ENTREZ ]
Genbank	AJ420413 [ ENTREZ ]
Genbank	AL832609 [ ENTREZ ]
Genbank	BC012500 [ ENTREZ ]
Genbank	BC045620 [ ENTREZ ]
RefSeq	NM_005085 [ SRS ]    NM_005085 [ ENTREZ ]
RefSeq	AC_000052 [ SRS ]    AC_000052 [ ENTREZ ]
RefSeq	NC_000009 [ SRS ]    NC_000009 [ ENTREZ ]
RefSeq	NT_035014 [ SRS ]    NT_035014 [ ENTREZ ]
RefSeq	NW_924573 [ SRS ]    NW_924573 [ ENTREZ ]
AceView	NUP214 AceView - NCBI
Unigene	Hs.654530 [ SRS ]    Hs.654530 [ NCBI ]     HS654530 [ spliceNest ]
Fast-db	16244 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P35658 [ SRS]    P35658 [ EXPASY ]     P35658 [ INTERPRO ]
Interpro	IPR015943 WD40/YVTN_repeat-like [ SRS ]    IPR015943 WD40/YVTN_repeat-like [ EBI ]
Interpro	IPR001680 WD40_repeat [ SRS ]    IPR001680 WD40_repeat [ EBI ]
CluSTr	P35658
Smart	SM00320 WD40 [EMBL]
Blocks	P35658
HPRD	00258
	Protein Interaction databases
DIP	P35658
IntAct	P35658
	Polymorphism : SNP, mutations, diseases
OMIM	114350;601626    [ map ]
GENECLINICS	114350;601626
SNP	NUP214 [dbSNP-NCBI]
SNP	NM_005085 [SNP-NCI]
SNP	NUP214 [GeneSNPs - Utah]  NUP214] [HGBASE - SRS]
HAPMAP	NUP214 [HAPMAP]
COSMIC	NUP214 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	NUP214 [Translocation breakpoints In Cancer]
HGMD	NUP214
	General knowledge
Family Browser	NUP214 [UCSC Family Browser]
SOURCE	NM_005085
SMD	Hs.654530
SAGE	Hs.654530
GO	molecular_function [Amigo]  molecular_function
GO	transporter activity [Amigo]  transporter activity
GO	protein binding [Amigo]  protein binding
GO	nucleus [Amigo]  nucleus
GO	nuclear pore [Amigo]  nuclear pore
GO	protein export from nucleus [Amigo]  protein export from nucleus
GO	protein transport [Amigo]  protein transport
GO	membrane [Amigo]  membrane
GO	mRNA transport [Amigo]  mRNA transport
GO	intracellular protein transport across a membrane [Amigo]  intracellular protein transport across a membrane
PubGene	NUP214
TreeFam	NUP214
CTD	8021 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probe	NUP214 Related clones (RZPD - Berlin)
	PubMed
PubMed	38 Pubmed reference(s) in LocusLink

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

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Contributor(s)

Written	01-1998	Jean-Loup Huret

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. . URL : http://AtlasGeneticsOncology.org/Genes/CAN.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Jul 2 08:22:24 2008