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Aliases for NUP62 Gene

Aliases for NUP62 Gene

  • Nucleoporin 62kDa 2 3
  • Nuclear Pore Glycoprotein P62 2 3
  • 62 KDa Nucleoporin 3 4
  • Nucleoporin Nup62 3 4
  • Nucleoporin 62kD 2 3
  • IBSN 3 6
  • SNDI 3 6
  • P62 3

External Ids for NUP62 Gene

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 62kDa) is a Protein Coding gene. Diseases associated with NUP62 include striatonigral degeneration, infantile and striatonigral degeneration. Among its related pathways are Disease and Cell Cycle, Mitotic. 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

Genomic Location for NUP62 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NUP62 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUP62 Gene

Regulatory Elements 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 NUPL1 (By similarity). Interacts with C11orf73/Hikeshi.

    Three dimensional structures from OCA and Proteopedia for NUP62 Gene

neXtProt entry for NUP62 Gene

Proteomics data for NUP62 Gene at MOPED

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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys371 and Lys435
  • Glycosylation at Thr373 and Ser468

No data available for DME Specific Peptides for NUP62 Gene

Domains 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
Domain:
  • Contains F-X-F-G repeats:
    • P37198
Family:
  • Belongs to the nucleoporin NSP1/NUP62 family.:
    • P37198
genes like me logo Genes that share domains with NUP62: view

No data available for Gene Families for NUP62 Gene

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 IPI 10356400
GO:0017056 structural constituent of nuclear pore IEA --
GO:0030159 receptor signaling complex scaffold activity ISS --
genes like me logo Genes that share ontologies with NUP62: view
genes like me logo Genes that share phenotypes with NUP62: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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:0005643 nuclear pore ISS --
GO:0005737 cytoplasm NAS 10373430
GO:0005856 cytoskeleton --
genes like me logo Genes that share ontologies with NUP62: view

Pathways for NUP62 Gene

SuperPathways for NUP62 Gene

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

Pathways by source for NUP62 Gene

42 Reactome pathways for NUP62 Gene
1 KEGG pathway for NUP62 Gene

Gene Ontology (GO) - Biological Process for NUP62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0005975 carbohydrate metabolic process TAS --
GO:0006351 transcription, DNA-templated ISS --
GO:0006913 nucleocytoplasmic transport NAS 8589458
GO:0007077 mitotic nuclear envelope disassembly TAS --
genes like me logo Genes that share ontologies with NUP62: view

Compounds for NUP62 Gene

(1) Novoseek inferred chemical compound relationships for NUP62 Gene

Compound -log(P) Hits PubMed IDs
zinc 7.39 1
genes like me logo Genes that share compounds with NUP62: view

Transcripts for NUP62 Gene

Unigene Clusters for NUP62 Gene

Nucleoporin 62kDa:
Representative Sequences:

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 (6.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NUP62 Gene

SOURCE GeneReport for Unigene cluster for NUP62 Gene Hs.574492

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

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
chimpanzee
(Pan troglodytes)
Mammalia NUP62 35
  • 97 (n)
  • 95.79 (a)
NUP62 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IL4I1 35
  • 81.27 (n)
  • 81.01 (a)
dog
(Canis familiaris)
Mammalia NUP62 35
  • 84.29 (n)
  • 85.25 (a)
NUP62 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nup62 35
  • 78.72 (n)
  • 79.88 (a)
Nup62 16
Nup62 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 37 (a)
ManyToMany
-- 36
  • 49 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 64 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Nup62 35
  • 79.3 (n)
  • 80.66 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 54 (a)
OneToMany
NUP62 35
  • 64.63 (n)
  • 63.19 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 56 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC394934 35
  • 58.35 (n)
  • 60.33 (a)
zebrafish
(Danio rerio)
Actinopterygii nup62l 36
  • 50 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Nup62 36
  • 41 (a)
OneToMany
CG6251 37
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NSP1 36
  • 10 (a)
ManyToMany
NSP1 38
NUP1 36
  • 6 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToMany
Species with no ortholog for NUP62:
  • 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 MAF
VAR_013467 -
VAR_034904 Infantile striatonigral degeneration (SNDI)
VAR_028065 -
VAR_028064 -

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

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
nsv912269 CNV Loss 21882294
dgv53n68 CNV Loss 17160897
dgv54n68 CNV Loss 17160897
esv996372 CNV Deletion 20482838
nsv458720 CNV Gain 19166990
nsv7309 OTHER Inversion 18451855

Relevant External Links for NUP62 Gene

HapMap Linkage Disequilibrium report
NUP62
Human Gene Mutation Database (HGMD)
NUP62

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

Disorders for NUP62 Gene

(1) OMIM Diseases for NUP62 Gene (605815)

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.

(2) University of Copenhagen DISEASES for NUP62 Gene

Relevant External Links for NUP62

Genetic Association Database (GAD)
NUP62
genes like me logo Genes that share disorders with NUP62: view

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 23
  2. Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. (PMID: 16786527) Basel-Vanagaite L. … Shohat M. (Ann. Neurol. 2006) 3 4 23
  3. Nuclear import of the MUC1-C oncoprotein is mediated by nucleoporin Nup62. (PMID: 17500061) Leng Y. … Kufe D. (J. Biol. Chem. 2007) 3 23
  4. Mutations in tap uncouple RNA export activity from translocation through the nuclear pore complex. (PMID: 16314397) LAcvesque L. … Paschal B.M. (Mol. Biol. Cell 2006) 3 23
  5. The N-terminal domain of the mammalian nucleoporin p62 interacts with other nucleoporins of the FXFG family during interphase. (PMID: 16730000) Stochaj U. … Matusiewicz N. (Exp. Cell Res. 2006) 3 23

Products for NUP62 Gene

  • Addgene plasmids for NUP62

Sources for NUP62 Gene

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