PSMC2 proteasome 26S subunit, ATPase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PSMC2provided by HGNC
Official Full Name: proteasome 26S subunit, ATPase 2provided by HGNC
Primary source: HGNC:HGNC:9548
See related: Ensembl:ENSG00000161057 MIM:154365; AllianceGenome:HGNC:9548
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: S7; MSS1; RPT1; Nbla10058
Summary: The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit has been shown to interact with several of the basal transcription factors so, in addition to participation in proteasome functions, this subunit may participate in the regulation of transcription. This subunit may also compete with PSMC3 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2011]
Expression: Ubiquitous expression in adrenal (RPKM 22.7), kidney (RPKM 22.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (103347524..103369395)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (104661962..104683844)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (102987971..103009842)

Chromosome 7 - NC_000007.14 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PSMC2 promotes glioma progression by regulating immune microenvironment and PI3K/AKT/mTOR pathway.
Title: PSMC2 promotes glioma progression by regulating immune microenvironment and PI3K/AKT/mTOR pathway.
PSMC2 knockdown exerts an anti-tumor role in nasopharyngeal carcinoma through regulating AKT signaling pathway.
Title: PSMC2 knockdown exerts an anti-tumor role in nasopharyngeal carcinoma through regulating AKT signaling pathway.
PSMC2 knockdown inhibits the progression of oral squamous cell carcinoma by promoting apoptosis via PI3K/Akt pathway.
Title: PSMC2 knockdown inhibits the progression of oral squamous cell carcinoma by promoting apoptosis via PI3K/Akt pathway.
PSMC2 is overexpressed in glioma and promotes proliferation and anti-apoptosis of glioma cells.
Title: PSMC2 is overexpressed in glioma and promotes proliferation and anti-apoptosis of glioma cells.
PSMC2/CCND1 axis promotes development of ovarian cancer through regulating cell growth, apoptosis and migration.
Title: PSMC2/CCND1 axis promotes development of ovarian cancer through regulating cell growth, apoptosis and migration.
Knockdown of PSMC2 contributes to suppression of cholangiocarcinoma development by regulating CDK1.
Title: Knockdown of PSMC2 contributes to suppression of cholangiocarcinoma development by regulating CDK1.
Overexpression of PSMC2 promotes the tumorigenesis and development of human breast cancer via regulating plasminogen activator urokinase (PLAU).
Title: Overexpression of PSMC2 promotes the tumorigenesis and development of human breast cancer via regulating plasminogen activator urokinase (PLAU).
the finding of this study provided the new insight into the mechanism how PSMC2 contribute to osteosarcoma malignancy and further suggested PSMC2 might serve as an attractive potential therapeutic target drug target for osteosarcoma treatment.
Title: PSMC2 is up-regulated in osteosarcoma and regulates osteosarcoma cell proliferation, apoptosis and migration.
structural determinants for the binding of ubiquitin-like domains to 26s proteasome
Title: Structural determinants for the binding of ubiquitin-like domains to the proteasome.

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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

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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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat slightly enhances the activity of the purified 26 S proteasome	PubMed
	tat	Amino acids Lys51, Arg52, and Asp67 of HIV-1 Tat represent the proteasome binding site of Tat, and Tat amino acids 37-72 are necessary for proteasomal interaction and suppression of 11 S regulator-mediated antigen presentation	PubMed
	tat	HIV-1 Tat inhibits the peptidase activity of the 20 S proteasome and interferes with the formation of the 20 S proteasome-11 S regulator complex	PubMed
	tat	HIV-1 Tat binds to the alpha2, alpha4, alpha6, alpha7, beta1, beta2, beta3, beta5, beta6, beta7, LMP7/beta5i, and MECL1/beta2i subunits of the proteasome 20 S core structure and can inhibit cellular proteasome function	PubMed
	tat	The MSS1 protein has been shown to stimulate HIV-1 Tat transactivation of the HIV-1 LTR promoter and based on sequence homology has been identified as subunit 7 of the 26S protease	PubMed
Vif	vif	HIV-1 Vif binds to the cellular cytidine deaminase APOBEC3G and targets it for degradation through an interaction with the proteasome, thereby inhibiting APOBEC3G mediated restriction of HIV-1 replication	PubMed
integrase	gag-pol	Proteasomal degradation of HIV-1 integrase in mammalian cells occurs by the N-end rule pathway	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

RH69239 (e-PCR)
- UniSTS:64018

RH80487 (e-PCR)
- UniSTS:85537

PSMC2 (e-PCR)
- UniSTS:39107

RH11504 (e-PCR)
- UniSTS:44750

SGC32632 (e-PCR)
- UniSTS:13306

D7S2509 (e-PCR), detects polymorphism
- UniSTS:58365

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables proteasome-activating activity	IBA Inferred from Biological aspect of Ancestor more info
enables proteasome-activating activity	IDA Inferred from Direct Assay more info	PubMed
enables proteasome-activating activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in osteoblast differentiation	HDA more info	PubMed
involved_in positive regulation of proteasomal protein catabolic process	IC Inferred by Curator more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in P-body	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
part_of proteasome accessory complex	ISS Inferred from Sequence or Structural Similarity more info
part_of proteasome complex	IDA Inferred from Direct Assay more info	PubMed
part_of proteasome complex	NAS Non-traceable Author Statement more info	PubMed
part_of proteasome regulatory particle, base subcomplex	IBA Inferred from Biological aspect of Ancestor more info
located_in secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: 26S proteasome regulatory subunit 7

Names: 26S protease regulatory subunit 7; 26S proteasome AAA-ATPase subunit RPT1; mammalian suppressor of sgv-1 of yeast; protease 26S subunit 7; proteasome (prosome, macropain) 26S subunit, ATPase, 2; putative protein product of Nbla10058; testis secretory sperm-binding protein Li 197a

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.

mRNA and Protein(s)

NM_001204453.1 → NP_001191382.1 26S proteasome regulatory subunit 7 isoform 2

See identical proteins and their annotated locations for NP_001191382.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate segment at its 3' terminal exon which contains a premature stop codon, compared to variant 1. This variant encodes an isoform (2) with a shorter C-terminus, compared to isoform 1.

Source sequence(s)

AK298529, BC002589, BE269755

UniProtKB/TrEMBL

B7Z571

Related

ENSP00000401724.1, ENST00000457587.5

Conserved Domains (1) summary

COG1222
Location:23 → 141

RPT1; ATP-dependent 26S proteasome regulatory subunit [Posttranslational modification, protein turnover, chaperones]
NM_002803.4 → NP_002794.1 26S proteasome regulatory subunit 7 isoform 1

See identical proteins and their annotated locations for NP_002794.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC004668, AC093701

Consensus CDS

CCDS5731.1

UniProtKB/Swiss-Prot

A4D0Q1, B7Z5E2, P35998, Q3LIA5, Q9UDI3

UniProtKB/TrEMBL

A0A140VK70, C9JX88

Related

ENSP00000292644.3, ENST00000292644.5

Conserved Domains (1) summary

COG1222
Location:23 → 430

RPT1; ATP-dependent 26S proteasome regulatory subunit [Posttranslational modification, protein turnover, chaperones]