NUP50 (nucleoporin 50)

2014-11-01  

Identity

HGNC
LOCATION
22q13.31
LOCUSID
ALIAS
NPAP60,NPAP60L
FUSION GENES

Other Information

Locus ID:

NCBI: 10762
MIM: 604646
HGNC: 8065
Ensembl: ENSG00000093000

Variants:

dbSNP: 10762
ClinVar: 10762
TCGA: ENSG00000093000
COSMIC: NUP50

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000093000ENST00000347635Q9UKX7
ENSG00000093000ENST00000347635A0A024R4X7
ENSG00000093000ENST00000396096Q9UKX7
ENSG00000093000ENST00000407019Q9UKX7
ENSG00000093000ENST00000417702A0A0G2JI20
ENSG00000093000ENST00000419387F2Z3L9
ENSG00000093000ENST00000422489B0QY21
ENSG00000093000ENST00000424634X6RKQ2
ENSG00000093000ENST00000430547B1AHA5
ENSG00000093000ENST00000434760F2Z3L9
ENSG00000093000ENST00000445721A0A0G2JIF9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013
Nuclear pore complexKEGGhsa_M00427
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
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA451611teniposideChemicalMultilinkAnnotationassociated24444404

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
230073892012The Nup153-Nup50 protein interface and its role in nuclear import.23
221306662012Nucleoporin Nup50 stabilizes closed conformation of armadillo repeat 10 in importin α5.14
200160082010Two isoforms of Npap60 (Nup50) differentially regulate nuclear protein import.9
287514962017Nup153 and Nup50 promote recruitment of 53BP1 to DNA repair foci by antagonizing BRCA1-dependent events.2

Citation

Dessen P

NUP50 (nucleoporin 50)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71045/nup50