NUP133 (nucleoporin 133)

2007-04-01  

Identity

HGNC
NUP133
LOCATION
1q42.13
LOCUSID
55746
ALIAS
GAMOS8,NPHS18,hNUP133
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55746
MIM: 607613
HGNC: 18016
Ensembl: ENSG00000069248

Variants:

dbSNP: 55746
ClinVar: 55746
TCGA: ENSG00000069248
COSMIC: NUP133

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000069248ENST00000261396Q8WUM0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
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
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate ForminsREACTOMER-HSA-5663220
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
Mitotic PrometaphaseREACTOMER-HSA-68877
Resolution of Sister Chromatid CohesionREACTOMER-HSA-2500257
Mitotic Metaphase and AnaphaseREACTOMER-HSA-2555396
Mitotic AnaphaseREACTOMER-HSA-68882
Separation of Sister ChromatidsREACTOMER-HSA-2467813
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
370416802023Steroid-resistant nephrotic syndrome caused by nuclear pore gene NUP133 variation.2
370416802023Steroid-resistant nephrotic syndrome caused by nuclear pore gene NUP133 variation.2
354559392022NUP133 Controls Nuclear Pore Assembly, Transcriptome Composition, and Cytoskeleton Regulation in Podocytes.3
354559392022NUP133 Controls Nuclear Pore Assembly, Transcriptome Composition, and Cytoskeleton Regulation in Podocytes.3
308210422019Roles of Nup133, Nup153 and membrane fenestrations in assembly of the nuclear pore complex at the end of mitosis.9
308210422019Roles of Nup133, Nup153 and membrane fenestrations in assembly of the nuclear pore complex at the end of mitosis.9
304275542018Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.24
304275542018Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.24
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
196749732009Architectural nucleoporins Nup157/170 and Nup133 are structurally related and descend from a second ancestral element.44
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
196749732009Architectural nucleoporins Nup157/170 and Nup133 are structurally related and descend from a second ancestral element.44
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
185708752008Structural and functional studies of Nup107/Nup133 interaction and its implications for the architecture of the nuclear pore complex.60

Citation

Dessen P

NUP133 (nucleoporin 133)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47119/nup133-(nucleoporin-133)