NUP214 (nucleoporin 214kDa)

2005-09-01   Sabine Strehl  

Childrens Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria

Identity

HGNC
NUP214
LOCATION
9q34.13
IMAGE
Atlas Image
LEGEND
NUP214 (9q34.3) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
IMAGE
Atlas 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
8021
ALIAS
CAIN,CAN,IIAE9
FUSION GENES
Show Gene Fusions

DNA/RNA

Description

36 exons encompassing about 108 kb of genomic DNA

Transcription

6.6 kb mRNA

Proteins

Atlas Image

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
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 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
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 gene
5 SET 3 NUP214
Entity name
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 gene
episomal amplification of the 5 NUP214 3 ABL1 fusion gene

Breakpoints

Atlas Image

Article Bibliography

Pubmed IDLast YearTitleAuthors
156744152005NUP214-ABL1 amplification in t(5;14)/HOX11L2-positive ALL present with several forms and may have a prognostic significance.Ballerini P et al
105468951999Function and assembly of nuclear pore complex proteins.Bodoor K et al
94884381998Overexpression of the nucleoporin CAN/NUP214 induces growth arrest, nucleocytoplasmic transport defects, and apoptosis.Boer J et al
91416351997The nucleoporin CAN/Nup214 binds to both the cytoplasmic and the nucleoplasmic sides of the nuclear pore complex in overexpressing cells.Boer JM et al
88955271996Interaction 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
159734572005DEK-CAN molecular monitoring of myeloid malignancies could aid therapeutic stratification.Garçon L et al
153618742004Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia.Graux C et al
81084401994The 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
152391262004Aberrant intracellular localization of SET-CAN fusion protein, associated with a leukemia, disorganizes nuclear export.Saito S et al
160153852005Fusion of NUP214 to ABL1 on amplified episomes in T-ALL--implications for treatment.Stergianou K et al
88964511996G2 arrest and impaired nucleocytoplasmic transport in mouse embryos lacking the proto-oncogene CAN/Nup214.van Deursen J et al
15491221992The 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

Gene IDTranscript IDUniprot
ENSG00000126883ENST00000359428P35658
ENSG00000126883ENST00000411637P35658
ENSG00000126883ENST00000451030A0A0A0MSW3
ENSG00000126883ENST00000453861H0Y837
ENSG00000126883ENST00000476004H0YDH2
ENSG00000126883ENST00000483497B7ZAV2
ENSG00000126883ENST00000498010H0YED3
ENSG00000126883ENST00000526346H0YF36
ENSG00000126883ENST00000528406H0YDI2
ENSG00000126883ENST00000530863H0YDS4
ENSG00000126883ENST00000531584E9PS86
ENSG00000126883ENST00000531600E9PKD2
ENSG00000126883ENST00000650694A0A494C0Y1
ENSG00000126883ENST00000651022A0A494BZU9
ENSG00000126883ENST00000651334A0A494C104
ENSG00000126883ENST00000651639A0A494C0J0
ENSG00000126883ENST00000652454A0A494C1F2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013
Nuclear pore complexKEGGhsa_M00427
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
Nuclear pore complexKEGGM00427
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
SUMOylationREACTOMER-HSA-2990846
SUMO E3 ligases SUMOylate target proteinsREACTOMER-HSA-3108232
SUMOylation of DNA damage response and repair proteinsREACTOMER-HSA-3108214
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Late Phase of HIV Life CycleREACTOMER-HSA-162599
Rev-mediated nuclear export of HIV RNAREACTOMER-HSA-165054
Host Interactions of HIV factorsREACTOMER-HSA-162909
Interactions of Vpr with host cellular proteinsREACTOMER-HSA-176033
Vpr-mediated nuclear import of PICsREACTOMER-HSA-180910
Interactions of Rev with host cellular proteinsREACTOMER-HSA-177243
Nuclear import of Rev proteinREACTOMER-HSA-180746
Influenza InfectionREACTOMER-HSA-168254
Influenza Life CycleREACTOMER-HSA-168255
Transport of Ribonucleoproteins into the Host NucleusREACTOMER-HSA-168271
Influenza Viral RNA Transcription and ReplicationREACTOMER-HSA-168273
Viral Messenger RNA SynthesisREACTOMER-HSA-168325
Export of Viral Ribonucleoproteins from NucleusREACTOMER-HSA-168274
NEP/NS2 Interacts with the Cellular Export MachineryREACTOMER-HSA-168333
Host Interactions with Influenza FactorsREACTOMER-HSA-168253
NS1 Mediated Effects on Host PathwaysREACTOMER-HSA-168276
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Interferon SignalingREACTOMER-HSA-913531
Antiviral mechanism by IFN-stimulated genesREACTOMER-HSA-1169410
ISG15 antiviral mechanismREACTOMER-HSA-1169408
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
Transport of Mature Transcript to CytoplasmREACTOMER-HSA-72202
Transport of Mature mRNA derived from an Intron-Containing TranscriptREACTOMER-HSA-159236
Transport of Mature mRNAs Derived from Intronless TranscriptsREACTOMER-HSA-159234
Transport of the SLBP Dependant Mature mRNAREACTOMER-HSA-159230
Transport of the SLBP independent Mature mRNAREACTOMER-HSA-159227
Transport of Mature mRNA Derived from an Intronless TranscriptREACTOMER-HSA-159231
Gene Silencing by RNAREACTOMER-HSA-211000
Transcriptional regulation by small RNAsREACTOMER-HSA-5578749
Regulation of mRNA stability by proteins that bind AU-rich elementsREACTOMER-HSA-450531
HuR (ELAVL1) binds and stabilizes mRNAREACTOMER-HSA-450520
Metabolism of non-coding RNAREACTOMER-HSA-194441
snRNP AssemblyREACTOMER-HSA-191859
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic ProphaseREACTOMER-HSA-68875
Nuclear Envelope BreakdownREACTOMER-HSA-2980766
Nuclear Pore Complex (NPC) DisassemblyREACTOMER-HSA-3301854
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Hexose transportREACTOMER-HSA-189200
Glucose transportREACTOMER-HSA-70153
Regulation of Glucokinase by Glucokinase Regulatory ProteinREACTOMER-HSA-170822
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Cellular responses to stressREACTOMER-HSA-2262752
Cellular response to heat stressREACTOMER-HSA-3371556
Regulation of HSF1-mediated heat shock responseREACTOMER-HSA-3371453
tRNA processingREACTOMER-HSA-72306
tRNA processing in the nucleusREACTOMER-HSA-6784531
SUMOylation of RNA binding proteinsREACTOMER-HSA-4570464
SUMOylation of DNA replication proteinsREACTOMER-HSA-4615885

References

Pubmed IDYearTitleCitations
381458922024NUP214 Rearrangements in Leukemia Patients: A Case Series From a Single Institution.0
381458922024NUP214 Rearrangements in Leukemia Patients: A Case Series From a Single Institution.0
359052142022The characteristics and prognostic significance of the SET-CAN/NUP214 fusion gene in hematological malignancies: A systematic review.2
359052142022The characteristics and prognostic significance of the SET-CAN/NUP214 fusion gene in hematological malignancies: A systematic review.2
343202682021SET-NUP214 and MLL cooperatively regulate the promoter activity of the HoxA10 gene.3
345514742021[Prognostic significance of DEK-NUP214 fusion gene in patients with acute myeloid leukemia after allogeneic hematopoietic stem cell transplantation].0
347532342021[SET-NUP214-positive pediatric acute myeloid leukemia: a report of two cases].1
343202682021SET-NUP214 and MLL cooperatively regulate the promoter activity of the HoxA10 gene.3
345514742021[Prognostic significance of DEK-NUP214 fusion gene in patients with acute myeloid leukemia after allogeneic hematopoietic stem cell transplantation].0
347532342021[SET-NUP214-positive pediatric acute myeloid leukemia: a report of two cases].1
307586582019NUP214 deficiency causes severe encephalopathy and microcephaly in humans.14
311781282019Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.21
311863522019The nuclear pore proteins Nup88/214 and T-cell acute lymphatic leukemia-associated NUP214 fusion proteins regulate Notch signaling.2
317558652019Chromatin-bound CRM1 recruits SET-Nup214 and NPM1c onto HOX clusters causing aberrant HOX expression in leukemia cells.24
307586582019NUP214 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/tumors-explorer/favicon/js/web-card-gene.js

Historical Card

1998-01-01 NUP214 (nucleoporin 214kDa) by  Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France