PSMB1 proteasome 20S subunit beta 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PSMB1provided by HGNC
Official Full Name: proteasome 20S subunit beta 1provided by HGNC
Primary source: HGNC:HGNC:9537
See related: Ensembl:ENSG00000008018 MIM:602017; AllianceGenome:HGNC:9537
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: HC5; PSC5; PMSB1; NEDMHAL
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. This gene is tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in placenta (RPKM 83.1), fat (RPKM 75.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q27

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (170535120..170553307, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (171908679..171926858, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (170844208..170862395, complement)

Chromosome 6 - NC_000006.12 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?

Uroplakin 1a Interacts with Regucalcin and Proteasome Subunit Beta 1.
Title: Uroplakin 1a Interacts with Regucalcin and Proteasome Subunit Beta 1.
Biallelic variants in PSMB1 encoding the proteasome subunit beta6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Title: Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Collectively, our study demonstrates PSMB1 is an important regulator of innate immune signaling in viral infection
Title: PSMB1 Negatively Regulates the Innate Antiviral Immunity by Facilitating Degradation of IKK-ε.
In vitro analyses demonstrated significantly reduced protease activity in proteasomes of individuals with G/G genotype compared with that of C/C carriers, despite that PSMB1 expression and proteasome assembly remained unaltered.
Title: Proteasome Subunit Beta Type 1 P11A Polymorphism Is a New Prognostic Marker in Multiple Myeloma.
The proteasome beta1 subunit plays a novel role in tumorigenesis by degrading p27Kip1.
Title: A novel role of proteasomal β1 subunit in tumorigenesis.
The mutated form of PSMB1 displayed increased nuclear translocation, resulting in activation of transcription in adipocytes.
Title: Role of nuclear localization of PSMB1 in transcriptional activation.
The proteasome was found to be activated in primary sjogren syndrome, with upregulation of gene expression of catalytic proteasome subunits.
Title: Gene expression of catalytic proteasome subunits and resistance toward proteasome inhibition of B lymphocytes from patients with primary sjogren syndrome.
Follicular lymphoma patients with PSMB1 P11A (G allele) and low CD68 expression have significantly longer progression free survival with bortezomib-rituximab versus rituximab.
Title: Prespecified candidate biomarkers identify follicular lymphoma patients who achieved longer progression-free survival with bortezomib-rituximab versus rituximab.
PSMB1 is part of the transcriptional machinery required for gastrin stimulated expression of PAI-2 and Reg1.
Title: The role of proteasome beta subunits in gastrin-mediated transcription of plasminogen activator inhibitor-2 and regenerating protein1.
Expression of 26S proteasome beta(1)-subunit in NB4 cells increased after incubation with As(2)O(3).
Title: [Influence of As(2)O(3) on proteasome beta(1)-subunit in NB4 cells].

Submit: New GeneRIF Correction See all GeneRIFs (12)

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
Neurodevelopmental disorder with microcephaly, hypotonia, and absent language MedGen: C5774216 OMIM: 620038 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. 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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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
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

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

RH93445 (e-PCR)
- UniSTS:87885

RH17360 (e-PCR)
- UniSTS:21586

RH79599 (e-PCR)
- UniSTS:88181

SHGC-82534 (e-PCR)
- UniSTS:95640

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in proteolysis involved in protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
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 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	IBA Inferred from Biological aspect of Ancestor more info
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	ISS Inferred from Sequence or Structural Similarity more info
located_in secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: proteasome subunit beta type-1

Names: beta-6; macropain subunit C5; multicatalytic endopeptidase complex subunit C5; proteasome (prosome, macropain) subunit, beta type, 1; proteasome beta 1 subunit; proteasome component C5; proteasome gamma chain; proteasome subunit HC5; proteasome subunit beta 1; proteasome subunit beta-6; proteasome subunit beta6; testicular secretory protein Li 45

NP_002784.1

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_002793.4 → NP_002784.1 proteasome subunit beta type-1

See identical proteins and their annotated locations for NP_002784.1

Status: REVIEWED

Source sequence(s)

BC020807, BP369175, BQ685374

Consensus CDS

CCDS34577.1

UniProtKB/Swiss-Prot

B5BU76, P20618, Q9BWA8

UniProtKB/TrEMBL

A0A140VK45, Q53FT8

Related

ENSP00000262193.6, ENST00000262193.7

Conserved Domains (1) summary

cd03757
Location:30 → 241

proteasome_beta_type_1; proteasome beta type-1 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 ...