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

    Gene ID: 5689, updated on 29-Mar-2023

    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_2023_03 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (170535120..170553307, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (171908679..171926858, complement)
    105.20220307 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 OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:170806710-170807540 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:170816979-170818178 Neighboring gene TATA-box binding protein repeat instability region Neighboring gene TATA-box binding protein 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: CN322037 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

    Homology

    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 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 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 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
    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 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
      P20618, Q9BWA8
      UniProtKB/TrEMBL
      A0A140VK45
      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_2023_03

    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)