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NUP62 nucleoporin 62 [ Homo sapiens (human) ]

Gene ID: 23636, updated on 28-Oct-2024

Summary

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Official Symbol
NUP62provided by HGNC
Official Full Name
nucleoporin 62provided by HGNC
Primary source
HGNC:HGNC:8066
See related
Ensembl:ENSG00000213024 MIM:605815; AllianceGenome:HGNC:8066
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p62; IBSN; SNDI
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 21.4), appendix (RPKM 16.1) and 25 other tissues See more
Orthologs
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Genomic context

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See NUP62 in Genome Data Viewer
Location:
19q13.33
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49906825..49929504, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52906960..52929639, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50410082..50432761, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50373269-50373916 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50379233-50380192 Neighboring gene AKT1 substrate 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14965 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:50381153-50382112 Neighboring gene uncharacterized LOC124904743 Neighboring gene TBC1 domain family member 17 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50393336-50394003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50394004-50394672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50394673-50395339 Neighboring gene microRNA 4750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14967 Neighboring gene interleukin 4 induced 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50411173-50411894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50415677-50416528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50424983-50425650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50425735-50426488 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10948 Neighboring gene activating transcription factor 5 Neighboring gene microRNA 4751 Neighboring gene small nucleolar RNA U3 Neighboring gene sialic acid binding Ig like lectin 11

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Nuclear Pore Complex 62 Promotes Metastasis of Gastric Cancer by Regulating Wnt/β-Catenin and TGF-β Signaling Pathways. Wang H, et al. J Environ Pathol Toxicol Oncol, 2021. PMID 33822519
  2. Mengovirus-induced rearrangement of the nuclear pore complex: hijacking cellular phosphorylation machinery. Bardina MV, et al. J Virol, 2009 Apr. PMID 19144712, Free PMC Article
  3. Characterization of the antibodies to p62 nucleoporin in primary biliary cirrhosis using human recombinant antigen. Wesierska-Gadek J, et al. J Cell Biochem, 2008 May 1. PMID 17960595
  4. Specific cleavage of the nuclear pore complex protein Nup62 by a viral protease. Park N, et al. J Biol Chem, 2010 Sep 10. PMID 20622012, Free PMC Article
  5. Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Basel-Vanagaite L, et al. Ann Neurol, 2006 Aug. PMID 16786527

See all (198) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Expression and Clinical Significance of IRE1-XBP1s, p62, and Caspase-3 in Colorectal Cancer Patients.
    Title: Expression and Clinical Significance of IRE1-XBP1s, p62, and Caspase-3 in Colorectal Cancer Patients.
  2. S-acylation of p62 promotes p62 droplet recruitment into autophagosomes in mammalian autophagy.
    Title: S-acylation of p62 promotes p62 droplet recruitment into autophagosomes in mammalian autophagy.
  3. Realgar-Induced Neurotoxicity: Crosstalk Between the Autophagic Flux and the p62-NRF2 Feedback Loop Mediates p62 Accumulation to Promote Apoptosis.
    Title: Realgar-Induced Neurotoxicity: Crosstalk Between the Autophagic Flux and the p62-NRF2 Feedback Loop Mediates p62 Accumulation to Promote Apoptosis.
  4. The TRAF2-p62 axis promotes proliferation and survival of liver cancer by activating mTORC1 pathway.
    Title: The TRAF2-p62 axis promotes proliferation and survival of liver cancer by activating mTORC1 pathway.
  5. Autophagy Receptor p62 Regulates SARS-CoV-2-Induced Inflammation in COVID-19.
    Title: Autophagy Receptor p62 Regulates SARS-CoV-2-Induced Inflammation in COVID-19.
  6. Acetylation of Nup62 by TIP60 ensures accurate chromosome segregation in mitosis.
    Title: Acetylation of Nup62 by TIP60 ensures accurate chromosome segregation in mitosis.
  7. Mislocalization of Nup62 Contributes to TDP-43 Proteinopathy in ALS/FTLD.
    Title: Mislocalization of Nup62 Contributes to TDP-43 Proteinopathy in ALS/FTLD.
  8. Alterations of the 70 kDa heat shock protein (HSP70) and sequestosome-1 (p62) in women with breast cancer.
    Title: Alterations of the 70 kDa heat shock protein (HSP70) and sequestosome-1 (p62) in women with breast cancer.
  9. NSP9 of SARS-CoV-2 attenuates nuclear transport by hampering nucleoporin 62 dynamics and functions in host cells.
    Title: NSP9 of SARS-CoV-2 attenuates nuclear transport by hampering nucleoporin 62 dynamics and functions in host cells.
  10. p62-containing, proteolytically active nuclear condensates, increase the efficiency of the ubiquitin-proteasome system.
    Title: p62-containing, proteolytically active nuclear condensates, increase the efficiency of the ubiquitin-proteasome system.
Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Familial infantile bilateral striatal necrosis
MedGen: C4087174 OMIM: 271930 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of nucleoporin 62kDa (NUP62) by shRNA inhibits HIV-1 infection by reducing viral DNA integration in CD4+ C8166 T cells and macrophages PubMed
Knockdown of nucleoporin 62kDa (NUP62) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Rev rev nup62 is involved in Rev-mediated nuclear export of HIV-1 mRNA through an interaction with eukaryotic initiation factor 5A (eIF-5A) which binds to Rev PubMed
integrase gag-pol HIV-1 IN specifically binds NUP62 through the IN binding domain (residues 328-522) of NUP62 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC841, FLJ20822, FLJ43869, DKFZp547L134

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Hsp70 protein binding IEA
Inferred from Electronic Annotation
more info
  
enables Hsp90 protein binding IEA
Inferred from Electronic Annotation
more info
  
enables PTB domain binding IEA
Inferred from Electronic Annotation
more info
  
enables SH2 domain binding IDA
Inferred from Direct Assay
more info
  
enables chromatin binding NAS
Non-traceable Author Statement
more info
  
enables phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor complex adaptor activity IDA
Inferred from Direct Assay
more info
  
enables structural constituent of nuclear pore IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin binding IDA
Inferred from Direct Assay
more info
  
Process Evidence Code Pubs
involved_in RNA export from nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell surface receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cell surface receptor signaling pathway NAS
Non-traceable Author Statement
more info
  
involved_in cellular senescence IEA
Inferred from Electronic Annotation
more info
  
involved_in centriole assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in centrosome cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mRNA transport IEA
Inferred from Electronic Annotation
more info
  
involved_in mitotic centrosome separation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitotic metaphase chromosome alignment IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of MAP kinase activity IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of Ras protein signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
  
involved_in negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of epidermal growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of programmed cell death IDA
Inferred from Direct Assay
more info
  
involved_in nucleocytoplasmic transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
  
involved_in positive regulation of canonical NF-kappaB signal transduction IDA
Inferred from Direct Assay
more info
  
involved_in positive regulation of centriole replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of epidermal growth factor receptor signaling pathway NAS
Non-traceable Author Statement
more info
  
involved_in positive regulation of mitotic cytokinetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of mitotic nuclear division IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of protein localization to centrosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of Ras protein signal transduction NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of mitotic spindle organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of signal transduction NAS
Non-traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in Flemming body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm NAS
Non-traceable Author Statement
more info
  
located_in mitotic spindle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear envelope TAS
Traceable Author Statement
more info
  
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
  
part_of nuclear pore IDA
Inferred from Direct Assay
more info
 PubMed 
part_of nuclear pore NAS
Non-traceable Author Statement
more info
 PubMed 
part_of nuclear pore central transport channel IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
part_of ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in spindle pole IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
nuclear pore glycoprotein p62
Names
62 kDa nucleoporin
nucleoporin 62kD
nucleoporin 62kDa
nucleoporin Nup62

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023448.1 RefSeqGene

    Range
    5228..27907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193357.2 → NP_001180286.1  nuclear pore glycoprotein p62

    See identical proteins and their annotated locations for NP_001180286.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AL162061, BC050717, BG575286, BM672281, DB076767
    Consensus CDS
    CCDS12788.1
    UniProtKB/Swiss-Prot
    B3KWU5, P37198, Q503A4, Q6GTM2, Q96C43, Q9NSL1
    UniProtKB/TrEMBL
    M0QXN5
    Related
    ENSP00000515007.1, ENST00000700474.1
    Conserved Domains (3) summary
    pfam05064
    Location:328 → 429
    Nsp1_C; Nsp1-like C-terminal region
    pfam13851
    Location:367 → 512
    GAS; Growth-arrest specific micro-tubule binding
    pfam15967
    Location:1 → 255
    Nucleoporin_FG2; Nucleoporin FG repeated region

  2. NM_012346.5 → NP_036478.2  nuclear pore glycoprotein p62

    See identical proteins and their annotated locations for NP_036478.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AL162061, BC050717, BG575286, BM672281, DA856902
    Consensus CDS
    CCDS12788.1
    UniProtKB/Swiss-Prot
    B3KWU5, P37198, Q503A4, Q6GTM2, Q96C43, Q9NSL1
    UniProtKB/TrEMBL
    M0QXN5
    Related
    ENSP00000515006.1, ENST00000700473.1
    Conserved Domains (3) summary
    pfam05064
    Location:328 → 429
    Nsp1_C; Nsp1-like C-terminal region
    pfam13851
    Location:367 → 512
    GAS; Growth-arrest specific micro-tubule binding
    pfam15967
    Location:1 → 255
    Nucleoporin_FG2; Nucleoporin FG repeated region

  3. NM_016553.5 → NP_057637.2  nuclear pore glycoprotein p62

    See identical proteins and their annotated locations for NP_057637.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AL162061, BC050717, BG575286, BM672281, DA949331
    Consensus CDS
    CCDS12788.1
    UniProtKB/Swiss-Prot
    B3KWU5, P37198, Q503A4, Q6GTM2, Q96C43, Q9NSL1
    UniProtKB/TrEMBL
    M0QXN5
    Related
    ENSP00000305503.3, ENST00000352066.8
    Conserved Domains (3) summary
    pfam05064
    Location:328 → 429
    Nsp1_C; Nsp1-like C-terminal region
    pfam13851
    Location:367 → 512
    GAS; Growth-arrest specific micro-tubule binding
    pfam15967
    Location:1 → 255
    Nucleoporin_FG2; Nucleoporin FG repeated region

  4. NM_153718.4 → NP_714940.1  nuclear pore glycoprotein p62

    See identical proteins and their annotated locations for NP_714940.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AL162061, BC050717, BG575286, BM672281, DA438104
    Consensus CDS
    CCDS12788.1
    UniProtKB/Swiss-Prot
    B3KWU5, P37198, Q503A4, Q6GTM2, Q96C43, Q9NSL1
    UniProtKB/TrEMBL
    M0QXN5
    Related
    ENSP00000407331.1, ENST00000422090.2
    Conserved Domains (3) summary
    pfam05064
    Location:328 → 429
    Nsp1_C; Nsp1-like C-terminal region
    pfam13851
    Location:367 → 512
    GAS; Growth-arrest specific micro-tubule binding
    pfam15967
    Location:1 → 255
    Nucleoporin_FG2; Nucleoporin FG repeated region

  5. NM_153719.4 → NP_714941.1  nuclear pore glycoprotein p62

    See identical proteins and their annotated locations for NP_714941.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All variants encode the same protein.
    Source sequence(s)
    AL162061, BC050717, BC101107, BG575286, BM672281, DA945913
    Consensus CDS
    CCDS12788.1
    UniProtKB/Swiss-Prot
    B3KWU5, P37198, Q503A4, Q6GTM2, Q96C43, Q9NSL1
    UniProtKB/TrEMBL
    M0QXN5
    Related
    ENSP00000473192.1, ENST00000597029.6
    Conserved Domains (3) summary
    pfam05064
    Location:328 → 429
    Nsp1_C; Nsp1-like C-terminal region
    pfam13851
    Location:367 → 512
    GAS; Growth-arrest specific micro-tubule binding
    pfam15967
    Location:1 → 255
    Nucleoporin_FG2; Nucleoporin FG repeated region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    49906825..49929504 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    52906960..52929639 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P37198.3 GenPept UniProtKB/Swiss-Prot:P37198

Gene LinkOut

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