PSMC3 proteasome 26S subunit, ATPase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PSMC3provided by HGNC
Official Full Name: proteasome 26S subunit, ATPase 3provided by HGNC
Primary source: HGNC:HGNC:9549
See related: Ensembl:ENSG00000165916 MIM:186852; AllianceGenome:HGNC:9549
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: RPT5; TBP1; DCIDP
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 that have chaperone-like activity. This subunit may compete with PSMC2 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. A pseudogene has been identified on chromosome 9. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in placenta (RPKM 35.4), brain (RPKM 35.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p11.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (47418775..47426439, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (47577679..47585336, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (47440326..47447990, complement)

Chromosome 11 - NC_000011.10 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: 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?

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Title: PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Circular circPSMC3 inhibits hepatocellular carcinoma migration and invasion by upregulating RBM5.
Title: Circular circPSMC3 inhibits hepatocellular carcinoma migration and invasion by upregulating RBM5.
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
Title: Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
Circ PSMC3 inhibits prostate cancer cell proliferation by downregulating DGCR8.
Title: Circ PSMC3 inhibits prostate cancer cell proliferation by downregulating DGCR8.
CircPSMC3 Suppresses Migration and Invasion of Non-Small Cell Lung Cancer Cells via miR-182-5p/NME2 Axis.
Title: CircPSMC3 Suppresses Migration and Invasion of Non-Small Cell Lung Cancer Cells via miR-182-5p/NME2 Axis.
19S ATPase S6b (S6'/TBP1) binds CIITApIV in an S6a-dependent fashion and has effects similar to S6a on CIITApIV histone acetylation.
Title: The 19S ATPase S6a (S6'/TBP1) regulates the transcription initiation of class II transactivator.
Heplipin induced KG-1 cell apoptosis is related with Wntl3 and ATPase3.
Title: [Identification of heplipin inducing apoptosis-related genes in KG-1 human leukemia cells by differential display RT-PCR].
findings suggest that a component of 19S regulatory particles directly binds AR and might participate in AR-mediated transcriptional activation in cooperation with TBPIP.
Title: Tat-binding protein-1 (TBP-1), an ATPase of 19S regulatory particles of the 26S proteasome, enhances androgen receptor function in cooperation with TBP-1-interacting protein/Hop2.
The stabilization effect exerted by TBP-1 requires an intact N-terminal 39 amino acids in ARF and occurs independently from N-terminal ubiquitination of the protein.
Title: TBP-1 protects the human oncosuppressor p14ARF from proteasomal degradation.
In normal cells, unmodified S12 associates with the 26S proteasome, while modified S12-M does not.
Title: Post-translationally modified S12, absent in transformed breast epithelial cells, is not associated with the 26S proteasome and is induced by proteasome inhibitor.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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
Deafness, cataract, impaired intellectual development, and polyneuropathy MedGen: C5543482 OMIM: 619354 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Discovery and fine mapping of serum protein loci through transethnic meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed

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 proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3) 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
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with PSMC3	PubMed
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	Inhibition of HIV-1 Tat function by TBP1 is enhanced by TBP1 interacting protein (TBPIP)	PubMed
	tat	TBP1 is a member of the ATPase family and a component of the 26S proteasome, and is a transcriptional activator that interacts directly with HIV-1 Tat to specifically inhibit Tat-mediated transactivation of the HIV-1 LTR promoter	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

NoName (e-PCR)
- UniSTS:489731

RH91482 (e-PCR)
- UniSTS:85283

RH98825 (e-PCR)
- UniSTS:90020

MARC_26198-26199:1039556289:1 (e-PCR)
- UniSTS:268982

RH70251 (e-PCR)
- UniSTS:64996

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 identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables proteasome-activating activity	IBA Inferred from Biological aspect of Ancestor more info
enables proteasome-activating activity	ISS Inferred from Sequence or Structural Similarity 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 modulation by host of viral transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of proteasomal protein catabolic process	IC Inferred by Curator more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay 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

Component	Evidence Code	Pubs
located_in P-body	ISS Inferred from Sequence or Structural Similarity 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
located_in nucleus	IDA Inferred from Direct Assay 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 6A

Names: 26S protease regulatory subunit 6A; 26S proteasome AAA-ATPase subunit RPT5; Tat-binding protein 1; human immunodeficiency virus tat transactivator binding protein-1; proteasome (prosome, macropain) 26S subunit, ATPase, 3; proteasome subunit P50; testicular secretory protein Li 42

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_002804.5 → NP_002795.2 26S proteasome regulatory subunit 6A

See identical proteins and their annotated locations for NP_002795.2

Status: REVIEWED

Source sequence(s)

AC090559

Consensus CDS

CCDS7935.1

UniProtKB/Swiss-Prot

B2R8V1, P17980, Q3B757, Q3B865, Q53HU5, Q6GPG8, Q6IBS1, Q96HD3

UniProtKB/TrEMBL

A0A140VK42, A8K781

Related

ENSP00000298852.3, ENST00000298852.8

Conserved Domains (1) summary

COG1222
Location:25 → 432

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