NUP214 (nucleoporin 214kDa)
2005-09-01 Sabine Strehl AffiliationChildrens Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria
Identity
HGNC
LOCATION
9q34.13
IMAGE
LEGEND
NUP214 (9q34.3) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
IMAGE
LEGEND
NUP214 (nucleoporin 214kDa) Hybridization with SureFISH NUP214 BA probe (Kreatech, Leica Biosystems Inc., US) showing the NUP214 gene on 9q34 - Courtesy Adriana Zamecnikova.
LOCUSID
ALIAS
CAIN,CAN,IIAE9
FUSION GENES
DNA/RNA
Description
36 exons encompassing about 108 kb of genomic DNA
Transcription
6.6 kb mRNA
Proteins
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 name
Disease
M2, M4 AML or MDS
Prognosis
remission difficult to obtain
Cytogenetics
this chromosome anomaly may be over looked
Hybrid gene
5 DEK - 3 NUP214; chromosome 6 breakpoint clusters in a single intron
Fusion 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 name
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 gene
5 SET 3 NUP214
Prognosis
aggressive course of disease
Cytogenetics
found in T-ALL with various karyotypes
Hybrid gene
episomal amplification of the 5 NUP214 3 ABL1 fusion gene
Breakpoints
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15674415 | 2005 | NUP214-ABL1 amplification in t(5;14)/HOX11L2-positive ALL present with several forms and may have a prognostic significance. | Ballerini P et al |
| 10546895 | 1999 | Function and assembly of nuclear pore complex proteins. | Bodoor K et al |
| 9488438 | 1998 | Overexpression of the nucleoporin CAN/NUP214 induces growth arrest, nucleocytoplasmic transport defects, and apoptosis. | Boer J et al |
| 9141635 | 1997 | The nucleoporin CAN/Nup214 binds to both the cytoplasmic and the nucleoplasmic sides of the nuclear pore complex in overexpressing cells. | Boer JM et al |
| 8895527 | 1996 | Interaction of cellular proteins with the leukemia specific fusion proteins DEK-CAN and SET-CAN and their normal counterpart, the nucleoporin CAN. | Fornerod M et al |
| 15973457 | 2005 | DEK-CAN molecular monitoring of myeloid malignancies could aid therapeutic stratification. | Garçon L et al |
| 15361874 | 2004 | Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia. | Graux C et al |
| 8108440 | 1994 | The human CAN protein, a putative oncogene product associated with myeloid leukemogenesis, is a nuclear pore complex protein that faces the cytoplasm. | Kraemer D et al |
| 15239126 | 2004 | Aberrant intracellular localization of SET-CAN fusion protein, associated with a leukemia, disorganizes nuclear export. | Saito S et al |
| 16015385 | 2005 | Fusion of NUP214 to ABL1 on amplified episomes in T-ALL--implications for treatment. | Stergianou K et al |
| 8896451 | 1996 | G2 arrest and impaired nucleocytoplasmic transport in mouse embryos lacking the proto-oncogene CAN/Nup214. | van Deursen J et al |
| 1549122 | 1992 | 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 et al |
Other Information
Locus ID:
NCBI: 8021
MIM: 114350
HGNC: 8064
Ensembl: ENSG00000126883
Variants:
dbSNP: 8021
ClinVar: 8021
TCGA: ENSG00000126883
COSMIC: NUP214
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38145892 | 2024 | NUP214 Rearrangements in Leukemia Patients: A Case Series From a Single Institution. | 0 |
| 38145892 | 2024 | NUP214 Rearrangements in Leukemia Patients: A Case Series From a Single Institution. | 0 |
| 35905214 | 2022 | The characteristics and prognostic significance of the SET-CAN/NUP214 fusion gene in hematological malignancies: A systematic review. | 2 |
| 35905214 | 2022 | The characteristics and prognostic significance of the SET-CAN/NUP214 fusion gene in hematological malignancies: A systematic review. | 2 |
| 34320268 | 2021 | SET-NUP214 and MLL cooperatively regulate the promoter activity of the HoxA10 gene. | 3 |
| 34551474 | 2021 | [Prognostic significance of DEK-NUP214 fusion gene in patients with acute myeloid leukemia after allogeneic hematopoietic stem cell transplantation]. | 0 |
| 34753234 | 2021 | [SET-NUP214-positive pediatric acute myeloid leukemia: a report of two cases]. | 1 |
| 34320268 | 2021 | SET-NUP214 and MLL cooperatively regulate the promoter activity of the HoxA10 gene. | 3 |
| 34551474 | 2021 | [Prognostic significance of DEK-NUP214 fusion gene in patients with acute myeloid leukemia after allogeneic hematopoietic stem cell transplantation]. | 0 |
| 34753234 | 2021 | [SET-NUP214-positive pediatric acute myeloid leukemia: a report of two cases]. | 1 |
| 30758658 | 2019 | NUP214 deficiency causes severe encephalopathy and microcephaly in humans. | 14 |
| 31178128 | 2019 | Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy. | 21 |
| 31186352 | 2019 | The nuclear pore proteins Nup88/214 and T-cell acute lymphatic leukemia-associated NUP214 fusion proteins regulate Notch signaling. | 2 |
| 31755865 | 2019 | Chromatin-bound CRM1 recruits SET-Nup214 and NPM1c onto HOX clusters causing aberrant HOX expression in leukemia cells. | 24 |
| 30758658 | 2019 | NUP214 deficiency causes severe encephalopathy and microcephaly in humans. | 14 |
Citation
Sabine Strehl
NUP214 (nucleoporin 214kDa)
Atlas Genet Cytogenet Oncol Haematol. 2005-09-01
Online version: http://atlasgeneticsoncology.org/gene/29/nup214-(nucleoporin-214kda)
Historical Card
1998-01-01 NUP214 (nucleoporin 214kDa) by Jean-Loup Huret Affiliation
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
