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Aliases for NUP50 Gene

Aliases for NUP50 Gene

  • Nucleoporin 50 2 3 5
  • 50 KDa Nucleoporin 3 4
  • Nucleoporin 50kDa 2 3
  • Nucleoporin Nup50 3 4
  • NPAP60L 3 4
  • Nuclear Pore-Associated Protein 60 KDa-Like 4
  • Nuclear Pore-Associated Protein 60L 3
  • Nuclear Pore Complex Protein Nup50 3
  • Nucleoporin 50kD 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 50) is a Protein Coding gene. Among its related pathways are Transport of the SLBP independent Mature mRNA and Cell Cycle, Mitotic.

UniProtKB/Swiss-Prot for NUP50 Gene

  • Component of the nuclear pore complex that has a direct role in nuclear protein import (PubMed:20016008). Actively displaces NLSs from importin-alpha, and facilitates disassembly of the importin-alpha:beta-cargo complex and importin recycling (PubMed:20016008). Interacts with regulatory proteins of cell cycle progression including CDKN1B (By similarity). This interaction is required for correct intracellular transport and degradation of CDKN1B (By similarity).

Gene Wiki entry for NUP50 Gene

Additional gene information for NUP50 Gene

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

Genomics for NUP50 Gene

Regulatory Elements for NUP50 Gene

Enhancers for NUP50 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H045104 1.3 FANTOM5 Ensembl ENCODE 56.7 -58.2 -58219 1 FOXA2 MAX ZNF384 ZBTB40 RFX5 TEAD3 ZFHX2 CTBP1 POLR2A FOS NUP50 GC22P045106 GC22P045074
GH22H045157 1.4 FANTOM5 ENCODE 22.5 -2.1 -2083 8 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 NUP50 ENSG00000273243 NUP50-AS1 KIAA0930
GH22H045102 0.5 Ensembl 45 -60.7 -60698 0 ZNF121 SCRT1 SCRT2 NUP50 GC22P045106 GC22P045074
GH22H046006 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.6 +846.9 846900 9 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 LINC00899 CDPF1 TRMU RPS10P31 ENSG00000273243 LOC642648 SMC1B PRR34-AS1 PRR34 MIRLET7BHG
GH22H045178 1 FANTOM5 ENCODE 21.5 +16.0 16026 1 GATAD2A HLF CEBPB CEBPG ATF2 RAD21 RARA NFIL3 ZNF121 CEBPA NUP50 MIR1249 KIAA0930 FAM118A ENSG00000273353
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NUP50 on UCSC Golden Path with GeneCards custom track

Promoters for NUP50 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000147150 259 2601 HDGF ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF207

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

Post-translational modifications for NUP50 Gene

  • Ubiquitination at posLast=5959, Lys62, Lys127, Lys192, and posLast=229229
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for NUP50
  • 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

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

Protein Domains for NUP50 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UKX7

UniProtKB/Swiss-Prot:

NUP50_HUMAN :
  • Contains FG repeats. FG repeats are interaction sites for karyopherins (importins, exportins) and form probably an affinity gradient, guiding the transport proteins unidirectionally with their cargo through the NPC. FG repeat regions are highly flexible and lack ordered secondary structure. The overall conservation of FG repeats regarding exact sequence, spacing, and repeat unit length is limited.
Domain:
  • Contains FG repeats. FG repeats are interaction sites for karyopherins (importins, exportins) and form probably an affinity gradient, guiding the transport proteins unidirectionally with their cargo through the NPC. FG repeat regions are highly flexible and lack ordered secondary structure. The overall conservation of FG repeats regarding exact sequence, spacing, and repeat unit length is limited.
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 (PubMed:20016008). Actively displaces NLSs from importin-alpha, and facilitates disassembly of the importin-alpha:beta-cargo complex and importin recycling (PubMed:20016008). Interacts with regulatory proteins of cell cycle progression including CDKN1B (By similarity). This interaction is required for correct intracellular transport and degradation of CDKN1B (By similarity).

Phenotypes From GWAS Catalog for NUP50 Gene

Gene Ontology (GO) - Molecular Function for NUP50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12802065
GO:0008536 Ran GTPase binding IBA --
genes like me logo Genes that share ontologies with NUP50: view
genes like me logo Genes that share phenotypes with NUP50: view

Animal Models for NUP50 Gene

MGI Knock Outs for NUP50:

Animal Model Products

CRISPR Products

miRNA for NUP50 Gene

miRTarBase miRNAs that target NUP50

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NUP50
  • Applied Biological Materials Clones for NUP50
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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 (PubMed:12802065). Associates with the newly formed nuclear membrane during telophase (PubMed:12802065). In the testis, the localization changes during germ cell differentiation from the nuclear surface in spermatocytes to the whole nucleus (interior) in spermatids and back to the nuclear surface in spermatozoa (By similarity). {ECO:0000250 UniProtKB:O08587, ECO:0000269 PubMed:12802065}.

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 NUP50 gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NUP50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005643 nuclear pore IEA,IBA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NUP50: view

Pathways & Interactions for NUP50 Gene

SuperPathways for NUP50 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 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:0006110 regulation of glycolytic process TAS --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006606 protein import into nucleus IBA --
GO:0006810 transport IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NUP50
  • Applied Biological Materials Clones for NUP50
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for NUP50 Gene



Protein tissue co-expression partners for NUP50 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NUP50 Gene:

NUP50

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.

Evidence on tissue expression from TISSUES for NUP50 Gene

  • Liver(4.3)
  • Nervous system(3.5)
genes like me logo Genes that share expression patterns with NUP50: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia NUP50 33 34
  • 86.78 (n)
cow
(Bos Taurus)
Mammalia NUP50 33 34
  • 84.67 (n)
mouse
(Mus musculus)
Mammalia Nup50 33 16 34
  • 81.47 (n)
1700123L14Rik 34
  • 58 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Npap60 33
  • 81.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NUP50 34
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NUP50 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUP50 33 34
  • 72.38 (n)
lizard
(Anolis carolinensis)
Reptilia NUP50 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nup50 33
  • 61.55 (n)
Str.6444 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7181 33
zebrafish
(Danio rerio)
Actinopterygii nup50 33 34
  • 58.57 (n)
wufa56e03 33
fruit fly
(Drosophila melanogaster)
Insecta Nup50 34
  • 28 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9306 34
  • 37 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11601 33
Species where no ortholog for NUP50 was found in the sources mined by GeneCards:
  • 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
rs1000043278 -- 45,184,713(+) CCCTT(-/AAAGTTAGTC)AGTTT utr-variant-3-prime
rs1000229452 -- 45,168,370(+) GGGAG(A/G)TGACA intron-variant
rs1000349013 -- 45,178,921(+) GTCGT(C/T)GAGTC intron-variant
rs1000352587 -- 45,163,358(+) CAGGA(C/G)GGATC intron-variant, upstream-variant-2KB
rs1000401397 -- 45,179,126(+) AATGA(A/T)TTTGA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2724389 CNV deletion 23290073
esv2724390 CNV deletion 23290073
esv2758843 CNV gain 17122850
esv6608 CNV gain 19470904
nsv834220 CNV loss 17160897
nsv964640 CNV duplication 23825009
nsv979687 CNV duplication 23825009
nsv9919 CNV gain+loss 18304495

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 HE (Cytogenetics and cell genetics 1999) 2 3 4 22 60
  2. Two isoforms of Npap60 (Nup50) differentially regulate nuclear protein import. (PMID: 20016008) Ogawa Y … Yoneda Y (Molecular biology of the cell 2010) 3 4 22 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for NUP50 Gene

  • Addgene plasmids for NUP50

Sources for NUP50 Gene

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