PSMB5 proteasome 20S subunit beta 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PSMB5provided by HGNC
Official Full Name: proteasome 20S subunit beta 5provided by HGNC
Primary source: HGNC:HGNC:9542
See related: Ensembl:ENSG00000100804 MIM:600306; AllianceGenome:HGNC:9542
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: MB1; LMPX
Summary: The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. 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 a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
Expression: Ubiquitous expression in brain (RPKM 31.9), placenta (RPKM 30.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (23025851..23035220, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (17226471..17235840, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23495060..23504429, complement)

Chromosome 14 - NC_000014.9 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?

MiR-383 sensitizes osteosarcoma cells to bortezomib treatment via down-regulating PSMB5.
Title: MiR-383 sensitizes osteosarcoma cells to bortezomib treatment via down-regulating PSMB5.
PSMB5 overexpression is correlated with tumor proliferation and poor prognosis in hepatocellular carcinoma.
Title: PSMB5 overexpression is correlated with tumor proliferation and poor prognosis in hepatocellular carcinoma.
Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome.
Title: Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome.
Transcriptional downregulation of miR-127-3p by CTCF promotes prostate cancer bone metastasis by targeting PSMB5.
Title: Transcriptional downregulation of miR-127-3p by CTCF promotes prostate cancer bone metastasis by targeting PSMB5.
PSMB5 mutations are associated with multiple myeloma.
Title: Spectrum and functional validation of PSMB5 mutations in multiple myeloma.
PSMB5 knockdown could increase the expression of pro-apoptosis gene Bax and cleaved caspase-3
Title: [Effects of PSMB5 on proliferation and bortezomib chemo-resistance in human myeloma cells and its related molecular mechanisms].
Our results suggest a potential role for PSMB5 as a biomarker and therapeutic target for Triple-negative breast cancer
Title: PSMB5 is associated with proliferation and drug resistance in triple-negative breast cancer.
Results identified PSMB5 Q62P mutation to underlie bortezomib resistance in Down-syndrome-associated acute myeloid leukemia cells.
Title: Disulfiram overcomes bortezomib and cytarabine resistance in Down-syndrome-associated acute myeloid leukemia cells.
We also discovered and replicated three genome-wide significant variants in previously unreported loci for RDW (SLC12A2 rs17764730, PSMB5 rs941718), and hematocrit (PROX1 rs3754140) and an upstream anti-sense long-noncoding RNA, LINC01184, as the likely causal variant
Title: Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.
Data indicate that proteasomal subunit X PSMB5 is a target of signal transducer and activator of transcription 3 (STAT3).
Title: Regulation of PSMB5 protein and β subunits of mammalian proteasome by constitutively activated signal transducer and activator of transcription 3 (STAT3): potential role in bortezomib-mediated anticancer therapy.

Submit: New GeneRIF Correction See all GeneRIFs (26)

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
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

SHGC-132389 (e-PCR)
- UniSTS:170812

HUM00D0F11 (e-PCR)
- UniSTS:70226

WI-7398 (e-PCR)
- UniSTS:12224

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables threonine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
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
acts_upstream_of_or_within proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
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 core complex	IDA Inferred from Direct Assay more info	PubMed
part_of proteasome core complex	ISS Inferred from Sequence or Structural Similarity more info
part_of proteasome core complex, beta-subunit complex	IBA Inferred from Biological aspect of Ancestor more info
part_of proteasome core complex, beta-subunit complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: proteasome subunit beta type-5

Names: PSX large multifunctional protease X; beta-5; macropain epsilon chain; multicatalytic endopeptidase complex epsilon chain; proteasome (prosome, macropain) subunit, beta type, 5; proteasome beta 5 subunit; proteasome catalytic subunit 3; proteasome chain 6; proteasome epsilon chain; proteasome subunit MB1; proteasome subunit X; proteasome subunit beta 5; proteasome subunit, beta type, 5; testicular tissue protein Li 153

NP_001124197.1

EC 3.4.25.1

NP_001138404.1

EC 3.4.25.1

NP_002788.1

EC 3.4.25.1

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_001130725.1 → NP_001124197.1 proteasome subunit beta type-5 isoform 2

See identical proteins and their annotated locations for NP_001124197.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses a different segment for its 5' UTR and lacks the 5' end of the coding region, compared to variant 1. The encoded protein (isoform 2) results from the use of a downstream start codon and is shorter when it is compared to isoform 1.

Source sequence(s)

BC107720, BU539357, BU632351, CD048996

Consensus CDS

CCDS45083.1

UniProtKB/TrEMBL

A0A140VJS7

Related

ENSP00000395206.2, ENST00000425762.2

Conserved Domains (1) summary

cd03761
Location:1 → 144

proteasome_beta_type_5; proteasome beta type-5 subunit. The 20S proteasome, multisubunit proteolytic complex, is the central enzyme of nonlysosomal protein degradation in both the cytosol and nucleus. It is composed of 28 subunits arranged as four homoheptameric rings that ...
NM_001144932.3 → NP_001138404.1 proteasome subunit beta type-5 isoform 3

See identical proteins and their annotated locations for NP_001138404.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) includes an alternate exon, compared to variant 1, that causes a frameshift. The resulting protein (isoform 3) has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AL132780, KF455837

Consensus CDS

CCDS45084.1

UniProtKB/Swiss-Prot

P28074

Related

ENSP00000452424.1, ENST00000493471.2

Conserved Domains (1) summary

cl00467
Location:60 → 168

Ntn_hydrolase; The Ntn hydrolases (N-terminal nucleophile) are a diverse superfamily of of enzymes that are activated autocatalytically via an N-terminally lcated nucleophilic amino acid. N-terminal nucleophile (NTN-) hydrolase superfamily, which contains a ...
NM_002797.5 → NP_002788.1 proteasome subunit beta type-5 isoform 1

See identical proteins and their annotated locations for NP_002788.1

Status: REVIEWED

Description

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

Source sequence(s)

BC057840, BC107720

Consensus CDS

CCDS9584.1

UniProtKB/Swiss-Prot

B2R4N9, B4DUM9, D3DS43, E9PAV2, P28074, Q16242, Q6PEW2, Q7Z3B5, Q86T01, Q9TNN9

Related

ENSP00000355325.6, ENST00000361611.11

Conserved Domains (1) summary

cd03761
Location:60 → 247

proteasome_beta_type_5; proteasome beta type-5 subunit. The 20S proteasome, multisubunit proteolytic complex, is the central enzyme of nonlysosomal protein degradation in both the cytosol and nucleus. It is composed of 28 subunits arranged as four homoheptameric rings that ...