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

Gene ID: 5689, updated on 27-Nov-2024

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
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Genomic context

See PSMB1 in Genome Data Viewer
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_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901476 Neighboring gene uncharacterized LOC105378157 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:170806710-170807540 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:170816979-170818178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25467 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25468 Neighboring gene TATA-box binding protein repeat instability region Neighboring gene TATA-box binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17802 Neighboring gene programmed cell death 2

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ25321, KIAA1838

Gene Ontology Provided by GOA

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

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

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)

  1. NM_002793.4NP_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:30241
    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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    170535120..170553307 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    171908679..171926858 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)