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Aliases for NUP50 Gene

Aliases for NUP50 Gene

  • Nucleoporin 50kDa 2 3 5
  • 50 KDa Nucleoporin 3 4
  • Nucleoporin Nup50 3 4
  • Nucleoporin 50kD 2 3
  • NPAP60L 3 4
  • Nuclear Pore-Associated Protein 60 KDa-Like 4
  • Nuclear Pore-Associated Protein 60L 3
  • NPAP60 3

External Ids for NUP50 Gene

Previous HGNC Symbols for NUP50 Gene

  • NPAP60L

Previous GeneCards Identifiers for NUP50 Gene

  • GC22P042195
  • GC22P043836
  • GC22P043880
  • GC22P043938
  • GC22P045559
  • GC22P028504

Summaries for NUP50 Gene

Entrez Gene Summary for NUP50 Gene

  • 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. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for NUP50 Gene

NUP50 (Nucleoporin 50kDa) is a Protein Coding gene. Among its related pathways are Gene Expression and Metabolism.

UniProtKB/Swiss-Prot for NUP50 Gene

  • Component of the nuclear pore complex that has a direct role in nuclear protein import. Actively displaces NLSs from importin-alpha, and facilitates disassembly of the importin-alpha:beta-cargo complex and importin recycling. Interacts with multiple transport receptor proteins including CDKN1B. This interaction is required for correct intracellular transport and degradation of CDKN1B.

Gene Wiki entry for NUP50 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NUP50 Gene

Genomics for NUP50 Gene

Regulatory Elements for NUP50 Gene

Promoters for NUP50 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NUP50 on UCSC Golden Path with GeneCards custom track

Genomic Location for NUP50 Gene

Chromosome:
22
Start:
45,163,841 bp from pter
End:
45,188,015 bp from pter
Size:
24,175 bases
Orientation:
Plus strand

Genomic View for NUP50 Gene

Genes around NUP50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUP50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUP50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUP50 Gene

Proteins for NUP50 Gene

  • Protein details for NUP50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKX7-NUP50_HUMAN
    Recommended name:
    Nuclear pore complex protein Nup50
    Protein Accession:
    Q9UKX7
    Secondary Accessions:
    • B1AHA4
    • B2RB15
    • O75644
    • Q8N6V5
    • Q9NPM9
    • Q9NPR6
    • Q9P1K5

    Protein attributes for NUP50 Gene

    Size:
    468 amino acids
    Molecular mass:
    50144 Da
    Quaternary structure:
    • Interacts with Importin alpha-2, Importin beta, Importin beta-2, NUP153, Ran binding protein 7, CDKN1B and itself (By similarity). Does not interact with TPR.

    Three dimensional structures from OCA and Proteopedia for NUP50 Gene

    Alternative splice isoforms for NUP50 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NUP50 Gene

Proteomics data for NUP50 Gene at MOPED

Post-translational modifications for NUP50 Gene

  • Ubiquitination at Lys 59, Lys 62, Lys 127, Lys 192, and Lys 229
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cloud-Clone Corp. Antibodies for NUP50

No data available for DME Specific Peptides for NUP50 Gene

Domains & Families for NUP50 Gene

Gene Families for NUP50 Gene

Protein Domains for NUP50 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UKX7

UniProtKB/Swiss-Prot:

NUP50_HUMAN :
  • Contains FG repeats.
Domain:
  • Contains FG repeats.
  • Contains 1 RanBD1 domain.
genes like me logo Genes that share domains with NUP50: view

Function for NUP50 Gene

Molecular function for NUP50 Gene

GENATLAS Biochemistry:
nucleoporin,nuclear pore associated protein homolog to rat Npap60,showing a complex pattern of expression and multiple transcripts,only one,expressed primarly in testis,involved in the differentiation of spermatocytes in spermatozoa,a second transcript specific of blood leucocytes
UniProtKB/Swiss-Prot Function:
Component of the nuclear pore complex that has a direct role in nuclear protein import. Actively displaces NLSs from importin-alpha, and facilitates disassembly of the importin-alpha:beta-cargo complex and importin recycling. Interacts with multiple transport receptor proteins including CDKN1B. This interaction is required for correct intracellular transport and degradation of CDKN1B.
genes like me logo Genes that share phenotypes with NUP50: view

Animal Models for NUP50 Gene

MGI Knock Outs for NUP50:

Animal Model Products

miRNA for NUP50 Gene

miRTarBase miRNAs that target NUP50

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NUP50 Gene

Localization for NUP50 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUP50 Gene

Nucleus, nuclear pore complex. Nucleus membrane; Peripheral membrane protein; Nucleoplasmic side. Note=Localizes to the nucleoplasmic fibrils of the nuclear pore complex (By similarity). Dissociates from the NPC structure early during prophase of mitosis. Associates to the newly formed nuclear membrane during telophase. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NUP50 Gene COMPARTMENTS Subcellular localization image for NUP50 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for NUP50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031965 nuclear membrane IDA 12802065
genes like me logo Genes that share ontologies with NUP50: view

Pathways & Interactions for NUP50 Gene

SuperPathways for NUP50 Gene

Superpath Contained pathways
1 Regulation of Glucokinase by Glucokinase Regulatory Protein
2 Infectious disease
.48
3 SUMOylation
4 Mitotic Prophase
5 Cell Cycle, Mitotic
.61
genes like me logo Genes that share pathways with NUP50: view

Pathways by source for NUP50 Gene

SIGNOR curated interactions for NUP50 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NUP50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006606 protein import into nucleus IBA --
GO:0007077 mitotic nuclear envelope disassembly TAS --
genes like me logo Genes that share ontologies with NUP50: view

Drugs & Compounds for NUP50 Gene

No Compound Related Data Available

Transcripts for NUP50 Gene

Unigene Clusters for NUP50 Gene

Nucleoporin 50kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NUP50 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7
SP1: - - - - - - - -
SP2: -
SP3: - - - -
SP4:
SP5:

Relevant External Links for NUP50 Gene

GeneLoc Exon Structure for
NUP50
ECgene alternative splicing isoforms for
NUP50

Expression for NUP50 Gene

mRNA expression in normal human tissues for NUP50 Gene

Protein differential expression in normal tissues from HIPED for NUP50 Gene

This gene is overexpressed in Nasal epithelium (17.8) and Lymph node (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NUP50 Gene



SOURCE GeneReport for Unigene cluster for NUP50 Gene Hs.475103

mRNA Expression by UniProt/SwissProt for NUP50 Gene

Q9UKX7-NUP50_HUMAN
Tissue specificity: Ubiquitous. Highest levels in testis, peripheral blood leukocytes and fetal liver.
genes like me logo Genes that share expression patterns with NUP50: view

Protein tissue co-expression partners for NUP50 Gene

- Elite partner

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NUP50 Gene

Orthologs for NUP50 Gene

This gene was present in the common ancestor of animals.

Orthologs for NUP50 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NUP50 35
  • 99.29 (n)
  • 98.72 (a)
cow
(Bos Taurus)
Mammalia NUP50 36
  • 86 (a)
OneToOne
NUP50 35
  • 84.67 (n)
  • 84.67 (a)
dog
(Canis familiaris)
Mammalia NUP50 35
  • 86.78 (n)
  • 87.34 (a)
NUP50 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nup50 16
Nup50 35
  • 81.47 (n)
  • 78.45 (a)
1700123L14Rik 36
  • 58 (a)
OneToMany
Nup50 36
  • 78 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia NUP50 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NUP50 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Npap60 35
  • 81.47 (n)
  • 79.53 (a)
chicken
(Gallus gallus)
Aves NUP50 35
  • 72.38 (n)
  • 72.67 (a)
NUP50 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NUP50 36
  • 59 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7181 35
tropical clawed frog
(Silurana tropicalis)
Amphibia nup50 35
  • 61.55 (n)
  • 62.53 (a)
Str.6444 35
zebrafish
(Danio rerio)
Actinopterygii nup50 36
  • 55 (a)
OneToOne
nup50 35
  • 58.57 (n)
  • 59.37 (a)
wufa56e03 35
fruit fly
(Drosophila melanogaster)
Insecta Nup50 36
  • 28 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11601 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9306 36
  • 37 (a)
OneToOne
Species with no ortholog for NUP50:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 NUP50 Gene

ENSEMBL:
Gene Tree for NUP50 (if available)
TreeFam:
Gene Tree for NUP50 (if available)

Paralogs for NUP50 Gene

Pseudogenes.org Pseudogenes for NUP50 Gene

genes like me logo Genes that share paralogs with NUP50: view

No data available for Paralogs for NUP50 Gene

Variants for NUP50 Gene

Sequence variations from dbSNP and Humsavar for NUP50 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs132858 -- 45,166,854(+) TCATC(C/T)TTTAT intron-variant
rs132860 -- 45,167,680(+) TTGTG(A/G)AGGCG intron-variant
rs132861 -- 45,167,775(+) TTTTC(C/T)TTATG intron-variant
rs132875 -- 45,171,031(+) AGCAG(A/C)TTTCT intron-variant, utr-variant-5-prime
rs226522 -- 45,179,587(+) CTTCT(A/G)AGCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NUP50 Gene

Variant ID Type Subtype PubMed ID
nsv9919 CNV Gain+Loss 18304495
nsv834220 CNV Loss 17160897
esv6608 CNV Gain 19470904
dgv1411e1 CNV Complex 17122850
esv2724389 CNV Deletion 23290073
esv2724390 CNV Deletion 23290073

Variation tolerance for NUP50 Gene

Residual Variation Intolerance Score: 37.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.97; 20.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NUP50 Gene

HapMap Linkage Disequilibrium report
NUP50

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP50 Gene

Disorders for NUP50 Gene

Relevant External Links for NUP50

Genetic Association Database (GAD)
NUP50
Human Genome Epidemiology (HuGE) Navigator
NUP50
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NUP50

No disorders were found for NUP50 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NUP50 Gene

Publications for NUP50 Gene

  1. Mapping and complex expression pattern of the human NPAP60L nucleoporin gene. (PMID: 10449902) Trichet V. … McDermid H.E. (Cytogenet. Cell Genet. 1999) 2 3 4 23 67
  2. Two isoforms of Npap60 (Nup50) differentially regulate nuclear protein import. (PMID: 20016008) Ogawa Y. … Yoneda Y. (Mol. Biol. Cell 2010) 3 23
  3. Npap60/Nup50 is a tri-stable switch that stimulates importin-alpha:beta-mediated nuclear protein import. (PMID: 12176322) Lindsay M.E. … Macara I.G. (Cell 2002) 3 23
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for NUP50 Gene

Sources for NUP50 Gene

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