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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 HIV Life Cycle and Transport of the SLBP independent Mature mRNA. 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 CIViC summary , 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
GH19G049910 1.9 FANTOM5 Ensembl ENCODE dbSUPER 27.8 +17.8 17775 3.9 HDGF PKNOX1 ATF1 AGO1 WRNIP1 ARID4B GLI4 ZNF48 ZNF2 ZNF121 NUP62 AKT1S1 POLD1 SNORD35A TBC1D17 PTOV1 PRR12 PIH1D1 PTOV1-AS2 ENSG00000221125
GH19G048988 1.6 FANTOM5 ENCODE 30.2 +937.7 937710 7.2 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 GRWD1 NUP62 PRR12 SNORD35A PIH1D1 KDELR1 AKT1S1 ALDH16A1 SNORD35B LOC101059948
GH19G049359 1.4 ENCODE dbSUPER 30.2 +567.4 567432 4.8 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 DKKL1 CCDC155 NUP62 GRWD1 AKT1S1 SNORD35A PRR12 KDELR1 PIH1D1 PTOV1-AS2
GH19G048958 2.1 FANTOM5 Ensembl ENCODE dbSUPER 19.2 +965.7 965734 10.2 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 PPP1R15A PRR12 NUP62 IZUMO1 RUVBL2 CA11 SEC1P SNORD35B C19orf68 ALDH16A1
GH19G050022 1.2 ENCODE 31.3 -95.1 -95059 4.5 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC SIGLEC16 POLD1 NUP62 SNORD35A PTOV1-AS2 PRR12 ALDH16A1 SNORD35B PNKP VRK3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000110984 331 2401 CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC

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. Interacts with NUTF2 (By similarity). Interacts with HIKESHI (PubMed:22541429). Interacts with OSBPL8 (PubMed:21698267). Interacts with CAPG (PubMed:18266911).
    • (Microbial infection) Interacts with Epstein-barr virus BGLF4; this interaction allows BGLF4 nuclear entry.

    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 Lys371 and Lys435
  • Glycosylation at posLast=373373 and Ser468
  • 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 FG repeats.
  • Belongs to the nucleoporin NSP1/NUP62 family.
Domain:
  • Contains FG 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 nucleocytoplasmic transporter activity IBA --
GO:0005515 protein binding IPI 7744965
GO:0005543 phospholipid binding IBA --
GO:0017056 structural constituent of nuclear pore IEA,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

Inhibitory RNA Products

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
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 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 IDA 24107630
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS --
GO:0005642 annulate lamellae IEA --
GO:0005643 nuclear pore ISS,IEA --
genes like me logo Genes that share ontologies with NUP62: view

Pathways & Interactions for NUP62 Gene

SuperPathways for NUP62 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 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 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:

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for NUP62 Gene

  • Nervous system(4.9)
  • Skin(4.5)
  • Liver(4.2)
  • Pancreas(4.2)
  • Lung(3)
  • Eye(2.4)
  • Intestine(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NUP62 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • foot
  • lower limb
General:
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns 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 34 35
  • 97 (n)
dog
(Canis familiaris)
Mammalia NUP62 34 35
  • 84.29 (n)
cow
(Bos Taurus)
Mammalia IL4I1 34
  • 81.27 (n)
rat
(Rattus norvegicus)
Mammalia Nup62 34
  • 79.3 (n)
mouse
(Mus musculus)
Mammalia Nup62 34 16 35
  • 78.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 64 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 49 (a)
ManyToMany
-- 35
  • 37 (a)
ManyToMany
chicken
(Gallus gallus)
Aves NUP62 34
  • 64.63 (n)
-- 35
  • 54 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 56 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC394934 34
  • 58.35 (n)
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 37
  • 10 (a)
ManyToMany
NUP1 35
  • 6 (a)
ManyToMany
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
rs121917865 Pathogenic, Infantile striatonigral degeneration (SNDI) [MIM:271930] 49,908,636(-) GGACC(A/C)GGAGC intron-variant, reference, missense
rs1062798 Likely benign 49,908,960(-) cacca(C/G)cagca intron-variant, reference, missense
rs1984656 Likely benign 49,909,259(+) GGTGC(C/G/T)GTGGG intron-variant, reference, synonymous-codon
rs892028 Likely benign 49,908,485(-) ATCGA(C/G/T)GCACA intron-variant, reference, synonymous-codon
rs999583 Likely benign 49,909,160(+) CCAGT(A/G)CTGGT intron-variant, reference, synonymous-codon

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

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

Disorder Aliases PubMed IDs
striatonigral degeneration, infantile
  • striatonigral degeneration infantile
familial infantile bilateral striatal necrosis
  • familial ibsn
parotid gland cancer
  • cancer of parotid gland
striatonigral degeneration
- 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 64
  2. Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. (PMID: 16786527) Basel-Vanagaite L. … Shohat M. (Ann. Neurol. 2006) 3 4 22 64
  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 64
  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 64
  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 64

Products for NUP62 Gene

Sources for NUP62 Gene

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