NUP62 nucleoporin 62 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Acetylation of Nup62 by TIP60 ensures accurate chromosome segregation in mitosis.
Title: Acetylation of Nup62 by TIP60 ensures accurate chromosome segregation in mitosis.
Mislocalization of Nup62 Contributes to TDP-43 Proteinopathy in ALS/FTLD.
Title: Mislocalization of Nup62 Contributes to TDP-43 Proteinopathy in ALS/FTLD.
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.
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.
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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79668 (e-PCR)
- UniSTS:87049

D11S2921 (e-PCR)
- UniSTS:152074

D19S412 (e-PCR), detects polymorphism
- UniSTS:70418

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

D1S1361 (e-PCR)
- UniSTS:149557

RH71288 (e-PCR)
- UniSTS:43575

D15S1477 (e-PCR)
- UniSTS:474482

D11S3114 (e-PCR)
- UniSTS:152207

NUP62 (e-PCR), detects polymorphism
- UniSTS:504466

D19S998 (e-PCR)
- UniSTS:1233

D19S596 (e-PCR)
- UniSTS:15315

PMC150528P1 (e-PCR)
- UniSTS:271061

PMC150528P2 (e-PCR)
- UniSTS:271062

RH46521 (e-PCR)
- UniSTS:14300

D19S867 (e-PCR), detects polymorphism
- UniSTS:23536

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 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

NG_023448.1 RefSeqGene

Range

5228..27907

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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