The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of w... See more...

Aliases for NUP133 Gene

Aliases for NUP133 Gene

  • Nucleoporin 133 2 3 5
  • Nuclear Pore Complex Protein Nup133 3 4
  • 133 KDa Nucleoporin 3 4
  • Nucleoporin 133kDa 2 3
  • Nucleoporin Nup133 3 4
  • Nucleoporin 133kD 3
  • FLJ10814 2
  • HNUP133 3
  • GAMOS8 3
  • NPHS18 3
  • NUP133 5

External Ids for NUP133 Gene

Previous GeneCards Identifiers for NUP133 Gene

  • GC01M228024
  • GC01M225271
  • GC01M225976
  • GC01M226538
  • GC01M225883
  • GC01M227643
  • GC01M229580
  • GC01M200067

Summaries for NUP133 Gene

Entrez Gene Summary for NUP133 Gene

  • The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]

GeneCards Summary for NUP133 Gene

NUP133 (Nucleoporin 133) is a Protein Coding gene. Diseases associated with NUP133 include Galloway-Mowat Syndrome 8 and Nephrotic Syndrome, Type 18. Among its related pathways are Transport of the SLBP independent Mature mRNA and Signaling by GPCR.

UniProtKB/Swiss-Prot Summary for NUP133 Gene

  • Involved in poly(A)+ RNA transport. Involved in nephrogenesis (PubMed:30179222).

Gene Wiki entry for NUP133 Gene

Additional gene information for NUP133 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUP133 Gene

Genomics for NUP133 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NUP133 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NUP133 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUP133

Top Transcription factor binding sites by QIAGEN in the NUP133 gene promoter:
  • AML1a
  • C/EBPbeta
  • Ik-1
  • POU2F1
  • POU2F1a
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • TGIF

Genomic Locations for NUP133 Gene

Genomic Locations for NUP133 Gene
chr1:229,440,259-229,508,342
(GRCh38/hg38)
Size:
68,084 bases
Orientation:
Minus strand
chr1:229,577,044-229,644,103
(GRCh37/hg19)
Size:
67,060 bases
Orientation:
Minus strand

Genomic View for NUP133 Gene

Genes around NUP133 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUP133 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUP133 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUP133 Gene

Proteins for NUP133 Gene

  • Protein details for NUP133 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUM0-NU133_HUMAN
    Recommended name:
    Nuclear pore complex protein Nup133
    Protein Accession:
    Q8WUM0
    Secondary Accessions:
    • B2RAZ8
    • Q5T8N0
    • Q9H9W2
    • Q9NV71
    • Q9NVC4

    Protein attributes for NUP133 Gene

    Size:
    1156 amino acids
    Molecular mass:
    128979 Da
    Quaternary structure:
    • Forms part of the Nup160 subcomplex in the nuclear pore which is composed of NUP160, NUP133, NUP107 and Nup96. This complex plays a role in RNA export and in tethering Nup98 and NUP153 to the nucleus.
    SequenceCaution:
    • Sequence=BAA91885.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14106.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NUP133 Gene

neXtProt entry for NUP133 Gene

Post-translational modifications for NUP133 Gene

  • Ubiquitination at Lys35, Lys523, Lys674, Lys787, Lys842, and Lys1110
  • Modification sites at PhosphoSitePlus

Other Protein References for NUP133 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NUP133 Gene

Domains & Families for NUP133 Gene

Gene Families for NUP133 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Protein Domains for NUP133 Gene

InterPro:
Blocks:
  • Nup133 nucleoporin
ProtoNet:

Suggested Antigen Peptide Sequences for NUP133 Gene

GenScript: Design optimal peptide antigens:
  • Nucleoporin Nup133 (NU133_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WUM0

UniProtKB/Swiss-Prot:

NU133_HUMAN :
  • Belongs to the nucleoporin Nup133 family.
Family:
  • Belongs to the nucleoporin Nup133 family.
genes like me logo Genes that share domains with NUP133: view

Function for NUP133 Gene

Molecular function for NUP133 Gene

UniProtKB/Swiss-Prot Function:
Involved in poly(A)+ RNA transport. Involved in nephrogenesis (PubMed:30179222).

Phenotypes From GWAS Catalog for NUP133 Gene

Gene Ontology (GO) - Molecular Function for NUP133 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11564755
GO:0017056 structural constituent of nuclear pore IDA 11684705
genes like me logo Genes that share ontologies with NUP133: view
genes like me logo Genes that share phenotypes with NUP133: view

Human Phenotype Ontology for NUP133 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NUP133 Gene

MGI Knock Outs for NUP133:
  • Nup133 Nup133<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP133

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NUP133 Gene

Localization for NUP133 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUP133 Gene

Nucleus, nuclear pore complex. Chromosome, centromere, kinetochore. Note=Located on both the cytoplasmic and nuclear sides of the nuclear pore (PubMed:11564755). During mitosis, localizes to the kinetochores (PubMed:11564755). {ECO:0000269 PubMed:11564755, ECO:0000269 PubMed:11684705}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NUP133 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 2
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NUP133 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA --
GO:0000777 colocalizes_with condensed chromosome kinetochore IBA,IDA 17098863
GO:0000940 colocalizes_with condensed chromosome outer kinetochore IDA 17363900
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with NUP133: view

Pathways & Interactions for NUP133 Gene

PathCards logo

SuperPathways for NUP133 Gene

SuperPathway Contained pathways
1 Transport of the SLBP independent Mature mRNA
2 HIV Life Cycle
.45
3 Cell Cycle, Mitotic
.60
4 Mitotic Prophase
5 Influenza Viral RNA Transcription and Replication
genes like me logo Genes that share pathways with NUP133: view

Pathways by source for NUP133 Gene

Gene Ontology (GO) - Biological Process for NUP133 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000972 transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery IBA 21873635
GO:0006110 regulation of glycolytic process TAS --
GO:0006355 regulation of transcription, DNA-templated IBA 21873635
GO:0006405 RNA export from nucleus IBA 21873635
GO:0006406 mRNA export from nucleus TAS --
genes like me logo Genes that share ontologies with NUP133: view

No data available for SIGNOR curated interactions for NUP133 Gene

Drugs & Compounds for NUP133 Gene

No Compound Related Data Available

Transcripts for NUP133 Gene

mRNA/cDNA for NUP133 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP133

Alternative Splicing Database (ASD) splice patterns (SP) for NUP133 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^
SP1: - - - - -
SP2: - - - - -
SP3:
SP4: -
SP5:
SP6:
SP7: -
SP8:

ExUns: 22a · 22b ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30a · 30b · 30c
SP1: -
SP2: - - - -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:

Relevant External Links for NUP133 Gene

GeneLoc Exon Structure for
NUP133

Expression for NUP133 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUP133 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NUP133 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.6) and Lymph node (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUP133 Gene



Protein tissue co-expression partners for NUP133 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUP133

SOURCE GeneReport for Unigene cluster for NUP133 Gene:

Hs.12457

mRNA Expression by UniProt/SwissProt for NUP133 Gene:

Q8WUM0-NU133_HUMAN
Tissue specificity: Widely expressed in fetal and adult tissues. Expressed in the brain and kidney.

Evidence on tissue expression from TISSUES for NUP133 Gene

  • Nervous system(4.7)
  • Skin(4.5)
  • Liver(4.4)
  • Blood(2.5)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with NUP133: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NUP133 Gene

Orthologs for NUP133 Gene

This gene was present in the common ancestor of animals.

Orthologs for NUP133 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NUP133 30 31
  • 99.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NUP133 30 31
  • 90.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NUP133 30 31
  • 89.07 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NUP133 31
  • 81 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Nup133 30 17 31
  • 80.38 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nup133 30
  • 78.48 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia NUP133 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NUP133 30 31
  • 74.32 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NUP133 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nup133 30
  • 66.02 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9485 30
Zebrafish
(Danio rerio)
Actinopterygii nup133 30 31
  • 60.82 (n)
OneToOne
wufa04e09 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12743 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003503 30
  • 42.21 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Nup133 30 31
  • 42.05 (n)
OneToOne
CG6958 32
  • 26 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1223 31
  • 32 (a)
OneToOne
Species where no ortholog for NUP133 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NUP133 Gene

ENSEMBL:
Gene Tree for NUP133 (if available)
TreeFam:
Gene Tree for NUP133 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NUP133: view image

Paralogs for NUP133 Gene

No data available for Paralogs for NUP133 Gene

Variants for NUP133 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUP133 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1433513056 Pathogenic: GALLOWAY-MOWAT SYNDROME 8 229,442,051(-) A/T INTRON_VARIANT
rs1558091788 Likely Pathogenic: NEPHROTIC SYNDROME, TYPE 18 229,458,219(-) A/C MISSENSE_VARIANT
rs1558108130 Likely Pathogenic: NEPHROTIC SYNDROME, TYPE 18 229,498,264(-) G/C MISSENSE_VARIANT
rs376476266 Likely Pathogenic: NEPHROTIC SYNDROME, TYPE 18. Nephrotic syndrome 18 (NPHS18) [MIM:618177] 229,450,541(-) A/Gp.Leu1055Ser MISSENSE_VARIANT
rs483352747 Uncertain Significance: not provided 229,441,943(-) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NUP133 Gene

Structural Variations from Database of Genomic Variants (DGV) for NUP133 Gene

Variant ID Type Subtype PubMed ID
dgv299e59 CNV tandem duplication 20981092
esv3379471 CNV duplication 20981092

Variation tolerance for NUP133 Gene

Residual Variation Intolerance Score: 26.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.98; 89.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NUP133 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUP133

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP133 Gene

Disorders for NUP133 Gene

MalaCards: The human disease database

(13) MalaCards diseases for NUP133 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
galloway-mowat syndrome 8
  • gamos8
nephrotic syndrome, type 18
  • nphs18
galloway-mowat syndrome
  • microcephaly, hiatal hernia, and nephrotic syndrome
genetic steroid-resistant nephrotic syndrome
  • nephrotic syndrome, steroid-resistant, autosomal recessive
nephrotic syndrome
  • finnish congenital nephrotic syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NU133_HUMAN
  • Nephrotic syndrome 18 (NPHS18) [MIM:618177]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS18 is an autosomal recessive, steroid-resistant progressive form with onset in the first decade of life. {ECO:0000269 PubMed:30179222}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Galloway-Mowat syndrome 8 (GAMOS8) [MIM:618349]: A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS8 inheritance is autosomal recessive. {ECO:0000269 PubMed:30427554}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NUP133

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NUP133: view

No data available for Genatlas for NUP133 Gene

Publications for NUP133 Gene

  1. Novel vertebrate nucleoporins Nup133 and Nup160 play a role in mRNA export. (PMID: 11684705) Vasu S … Forbes DJ (The Journal of cell biology 2001) 2 3 4 23
  2. An evolutionarily conserved NPC subcomplex, which redistributes in part to kinetochores in mammalian cells. (PMID: 11564755) Belgareh N … Doye V (The Journal of cell biology 2001) 3 4 23
  3. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. (PMID: 30179222) Braun DA … Hildebrandt F (The Journal of clinical investigation 2018) 3 4
  4. Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. (PMID: 30427554) Fujita A … Miyake N (Annals of neurology 2018) 3 4
  5. Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. (PMID: 26411495) Miyake N … Matsumoto N (American journal of human genetics 2015) 3 4

Products for NUP133 Gene

Sources for NUP133 Gene