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Aliases for NUP62 Gene

Aliases for NUP62 Gene

  • Nucleoporin 62 2 3 5
  • Nuclear Pore Glycoprotein P62 2 3
  • 62 KDa Nucleoporin 3 4
  • Nucleoporin 62kDa 2 3
  • Nucleoporin Nup62 3 4
  • Nucleoporin 62kD 3
  • IBSN 3
  • SNDI 3
  • P62 3

External Ids for NUP62 Gene

Previous GeneCards Identifiers for NUP62 Gene

  • GC19M051068
  • GC19M050742
  • GC19M055086
  • GC19M055066
  • GC19M055087
  • GC19M055072
  • GC19M055102
  • GC19M055093
  • GC19M055095
  • GC19M055097
  • GC19M055103
  • GC19M055104
  • GC19M055105
  • GC19M055107
  • GC19M055109
  • GC19M050410
  • GC19M046786

Summaries for NUP62 Gene

Entrez Gene Summary for NUP62 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 and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. [provided by RefSeq, Jul 2008]

GeneCards Summary for NUP62 Gene

NUP62 (Nucleoporin 62) is a Protein Coding gene. Diseases associated with NUP62 include Striatonigral Degeneration, Infantile and Familial Infantile Bilateral Striatal Necrosis. Among its related pathways are Transport of Mature Transcript to Cytoplasm and Regulation of Glucokinase by Glucokinase Regulatory Protein. GO annotations related to this gene include chromatin binding and SH2 domain binding. An important paralog of this gene is NUP62CL.

UniProtKB/Swiss-Prot for NUP62 Gene

  • Essential component of the nuclear pore complex. The N-terminal is probably involved in nucleocytoplasmic transport. The C-terminal is probably involved in protein-protein interaction via coiled-coil formation and may function in anchorage of p62 to the pore complex.

Gene Wiki entry for NUP62 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NUP62 Gene

Genomics for NUP62 Gene

Regulatory Elements for NUP62 Gene

Enhancers for NUP62 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around NUP62 on UCSC Golden Path with GeneCards custom track

Promoters for NUP62 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for NUP62 Gene

Chromosome:
19
Start:
49,906,825 bp from pter
End:
49,929,763 bp from pter
Size:
22,939 bases
Orientation:
Minus strand

Genomic View for NUP62 Gene

Genes around NUP62 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUP62 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUP62 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUP62 Gene

Proteins for NUP62 Gene

  • Protein details for NUP62 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P37198-NUP62_HUMAN
    Recommended name:
    Nuclear pore glycoprotein p62
    Protein Accession:
    P37198
    Secondary Accessions:
    • B3KWU5
    • Q503A4
    • Q6GTM2
    • Q96C43
    • Q9NSL1

    Protein attributes for NUP62 Gene

    Size:
    522 amino acids
    Molecular mass:
    53255 Da
    Quaternary structure:
    • Component of the p62 complex, a complex at least composed of NUP62, NUP54, and NUP58 (By similarity). Interacts with C11orf73/Hikeshi (PubMed:22541429). Interacts with Epstein-barr virus BGLF4; this interaction allows BGLF4 nuclear entry (PubMed:22623767). Interacts with OSBPL8 (PubMed:21698267).

    Three dimensional structures from OCA and Proteopedia for NUP62 Gene

neXtProt entry for NUP62 Gene

Post-translational modifications for NUP62 Gene

  • O-glycosylated. Contains about 10 N-acetylglucosamine side chain sites predicted for the entire protein, amongst which only one in the C-terminal.
  • The the inner channel of the NPC has a different redox environment from the cytoplasm and allows the formation of interchain disulfide bonds between some nucleoporins, the significant increase of these linkages upon oxidative stress reduces the permeability of the NPC.
  • Ubiquitination at Lys 371 and Lys 435
  • Glycosylation at Thr 373 and Ser 468
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NUP62 Gene

Domains & Families for NUP62 Gene

Gene Families for NUP62 Gene

Protein Domains for NUP62 Gene

Suggested Antigen Peptide Sequences for NUP62 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P37198

UniProtKB/Swiss-Prot:

NUP62_HUMAN :
  • Contains F-X-F-G repeats.
  • Belongs to the nucleoporin NSP1/NUP62 family.
Domain:
  • Contains F-X-F-G repeats.
Family:
  • Belongs to the nucleoporin NSP1/NUP62 family.
genes like me logo Genes that share domains with NUP62: view

Function for NUP62 Gene

Molecular function for NUP62 Gene

GENATLAS Biochemistry:
nucleoporin p62,component of the nuclear pore complex,yeast NSP1 homolog
UniProtKB/Swiss-Prot Function:
Essential component of the nuclear pore complex. The N-terminal is probably involved in nucleocytoplasmic transport. The C-terminal is probably involved in protein-protein interaction via coiled-coil formation and may function in anchorage of p62 to the pore complex.

Gene Ontology (GO) - Molecular Function for NUP62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding NAS 11852044
GO:0005487 contributes_to nucleocytoplasmic transporter activity NAS 8589458
GO:0005515 protein binding IEA,IPI 7744965
GO:0005543 phospholipid binding IBA --
GO:0017056 structural constituent of nuclear pore IBA --
genes like me logo Genes that share ontologies with NUP62: view
genes like me logo Genes that share phenotypes with NUP62: view

Human Phenotype Ontology for NUP62 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NUP62

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NUP62 Gene

Localization for NUP62 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUP62 Gene

Nucleus, nuclear pore complex. Cytoplasm, cytoskeleton, spindle pole. Note=Central region of the nuclear pore, within the transporter. During mitotic cell division, it associates with the poles of the mitotic spindle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NUP62 Gene COMPARTMENTS Subcellular localization image for NUP62 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for NUP62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005635 nuclear envelope TAS --
GO:0005642 annulate lamellae IEA --
GO:0005643 nuclear pore IEA,ISS --
GO:0005737 cytoplasm NAS 10373430
genes like me logo Genes that share ontologies with NUP62: view

Pathways & Interactions for NUP62 Gene

SuperPathways for NUP62 Gene

Superpath Contained pathways
1 Regulation of Glucokinase by Glucokinase Regulatory Protein
2 Infectious disease
.48
3 Cell Cycle, Mitotic
.61
4 Mitotic Prophase
5 Influenza Viral RNA Transcription and Replication
genes like me logo Genes that share pathways with NUP62: view

Pathways by source for NUP62 Gene

Gene Ontology (GO) - Biological Process for NUP62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated ISS --
GO:0006405 RNA export from nucleus IBA --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006606 protein import into nucleus IEA,IBA --
genes like me logo Genes that share ontologies with NUP62: view

No data available for SIGNOR curated interactions for NUP62 Gene

Drugs & Compounds for NUP62 Gene

(1) Drugs for NUP62 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with NUP62: view

Transcripts for NUP62 Gene

Unigene Clusters for NUP62 Gene

Nucleoporin 62kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NUP62

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NUP62 Gene

No ASD Table

Relevant External Links for NUP62 Gene

GeneLoc Exon Structure for
NUP62
ECgene alternative splicing isoforms for
NUP62

Expression for NUP62 Gene

mRNA expression in normal human tissues for NUP62 Gene

mRNA differential expression in normal tissues according to GTEx for NUP62 Gene

This gene is overexpressed in Testis (x6.6).

Protein differential expression in normal tissues from HIPED for NUP62 Gene

This gene is overexpressed in CD8 Tcells (8.0), NK cells (7.3), and Placenta (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NUP62 Gene



Protein tissue co-expression partners for NUP62 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NUP62 Gene:

NUP62

SOURCE GeneReport for Unigene cluster for NUP62 Gene:

Hs.574492
genes like me logo Genes that share expression patterns with NUP62: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for NUP62 Gene

Orthologs for NUP62 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NUP62 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia IL4I1 34
  • 81.27 (n)
  • 81.01 (a)
dog
(Canis familiaris)
Mammalia NUP62 34
  • 84.29 (n)
  • 85.25 (a)
NUP62 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nup62 34
  • 78.72 (n)
  • 79.88 (a)
Nup62 16
Nup62 35
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NUP62 34
  • 97 (n)
  • 95.79 (a)
NUP62 35
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nup62 34
  • 79.3 (n)
  • 80.66 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 37 (a)
ManyToMany
-- 35
  • 49 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves NUP62 34
  • 64.63 (n)
  • 63.19 (a)
-- 35
  • 54 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 56 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC394934 34
  • 58.35 (n)
  • 60.33 (a)
zebrafish
(Danio rerio)
Actinopterygii nup62l 35
  • 50 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6251 36
  • 46 (a)
Nup62 35
  • 41 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NSP1 35
  • 10 (a)
ManyToMany
NUP1 35
  • 6 (a)
ManyToMany
NSP1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
OneToMany
Species where no ortholog for NUP62 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 NUP62 Gene

ENSEMBL:
Gene Tree for NUP62 (if available)
TreeFam:
Gene Tree for NUP62 (if available)

Paralogs for NUP62 Gene

Paralogs for NUP62 Gene

genes like me logo Genes that share paralogs with NUP62: view

Variants for NUP62 Gene

Sequence variations from dbSNP and Humsavar for NUP62 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_013467 -
VAR_028064 -
VAR_028065 -
VAR_034904 Infantile striatonigral degeneration (SNDI)

Structural Variations from Database of Genomic Variants (DGV) for NUP62 Gene

Variant ID Type Subtype PubMed ID
dgv53n68 CNV loss 17160897
dgv54n68 CNV loss 17160897
esv3583457 CNV loss 25503493
esv3644628 CNV gain 21293372
esv3644630 CNV gain 21293372
esv996372 CNV deletion 20482838
nsv1058623 CNV gain 25217958
nsv1065648 CNV gain 25217958
nsv1140251 OTHER inversion 24896259
nsv458720 CNV gain 19166990
nsv579910 CNV gain 21841781
nsv7309 OTHER inversion 18451855
nsv953600 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for NUP62 Gene

Residual Variation Intolerance Score: 25.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.50; 71.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NUP62 Gene

Human Gene Mutation Database (HGMD)
NUP62
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUP62

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP62 Gene

Disorders for NUP62 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NUP62 Gene - From: OMIM, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
striatonigral degeneration, infantile
  • striatonigral degeneration infantile
familial infantile bilateral striatal necrosis
  • familial ibsn
striatonigral degeneration
parotid gland cancer
  • cancer of parotid gland
achalasia-addisonianism-alacrimia syndrome
  • triple-a syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NUP62 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NUP62_HUMAN
  • Infantile striatonigral degeneration (SNDI) [MIM:271930]: Neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation. {ECO:0000269 PubMed:16786527}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NUP62

Genetic Association Database (GAD)
NUP62
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NUP62
genes like me logo Genes that share disorders with NUP62: view

No data available for Genatlas for NUP62 Gene

Publications for NUP62 Gene

  1. Human nucleoporin p62 and the essential yeast nuclear pore protein NSP1 show sequence homology and a similar domain organization. (PMID: 1915414) Carmo-Fonseca M. … Hurt E.C. (Eur. J. Cell Biol. 1991) 2 3 4 22 65
  2. Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. (PMID: 16786527) Basel-Vanagaite L. … Shohat M. (Ann. Neurol. 2006) 3 4 22 65
  3. OSBP-related protein 8 (ORP8) regulates plasma and liver tissue lipid levels and interacts with the nucleoporin Nup62. (PMID: 21698267) Zhou T. … Yan D. (PLoS ONE 2011) 3 4 65
  4. Oxidative stress inhibits nuclear protein export by multiple mechanisms that target FG nucleoporins and Crm1. (PMID: 19828735) Crampton N. … Stochaj U. (Mol. Biol. Cell 2009) 3 22 65
  5. Characterization of the antibodies to p62 nucleoporin in primary biliary cirrhosis using human recombinant antigen. (PMID: 17960595) Wesierska-Gadek J. … Penner E. (J. Cell. Biochem. 2008) 3 22 65

Products for NUP62 Gene

Sources for NUP62 Gene

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