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    PSMB8 proteasome 20S subunit beta 8 [ Homo sapiens (human) ]

    Gene ID: 5696, updated on 26-Jul-2021

    Summary

    Official Symbol
    PSMB8provided by HGNC
    Official Full Name
    proteasome 20S subunit beta 8provided by HGNC
    Primary source
    HGNC:HGNC:9545
    See related
    Ensembl:ENSG00000204264 MIM:177046
    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
    JMP; ALDD; LMP7; NKJO; D6S216; PRAAS1; PSMB5i; RING10; D6S216E
    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 located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 49.9), spleen (RPKM 45.7) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PSMB8 in Genome Data Viewer
    Location:
    6p21.32
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (32840717..32844679, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32808494..32812456, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene major histocompatibility complex, class II, DO beta Neighboring gene transporter 2, ATP binding cassette subfamily B member Neighboring gene meiotic recombination hotspot TAP2 Neighboring gene PSMB8 antisense RNA 1 (head to head) Neighboring gene transporter 1, ATP binding cassette subfamily B member Neighboring gene proteasome 20S subunit beta 9

    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
    Genome-wide association study identifies susceptibility loci for IgA nephropathy.
    GeneReviews: Not available
    Proteasome-associated autoinflammatory syndrome 1
    MedGen: C4746851 OMIM: 256040 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates LMP7 and MECL1 catalytic subunits of the proteasome resulting in a more efficient generation and presentation of subdominant MHC-I-binding CTL epitopes of heterologous Ags PubMed
    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
    capsid gag HIV-1 CA downregulates PA28beta and the beta2i subunit of the immunoproteasome complex in a dendritic cell line (JAWS II), whereas in primary dendritic cells, PA28alpha, beta2i, and beta5i are downregulated by CA PubMed
    integrase gag-pol Proteasomal degradation of HIV-1 integrase in mammalian cells occurs by the N-end rule pathway PubMed
    reverse transcriptase gag-pol Up-regulation of LMP7 by IFN-gamma enhances proteasomal degradation of HIV-1 RT and presentation of the VIYQYMDDL epitope derived from HIV-1 RT 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

    • MGC1491

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    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 antigen processing and presentation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proteasomal protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of proteasome complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of proteasome core complex IBA
    Inferred from Biological aspect of Ancestor
    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
    PubMed 
    part_of proteasome core complex, beta-subunit complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of spermatoproteasome complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    proteasome subunit beta type-8
    Names
    low molecular mass protein 7
    low molecular weight protein 7
    macropain subunit C13
    multicatalytic endopeptidase complex subunit C13
    protease component C13
    proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)
    proteasome catalytic subunit 3i
    proteasome component C13
    proteasome subunit Y2
    proteasome subunit beta 5i
    proteasome subunit beta 8
    proteasome-related gene 7
    really interesting new gene 10 protein
    NP_004150.1
    NP_683720.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_028165.1 RefSeqGene

      Range
      5257..9219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1328

    mRNA and Protein(s)

    1. NM_004159.5NP_004150.1  proteasome subunit beta type-8 isoform E1

      See identical proteins and their annotated locations for NP_004150.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript but encodes the shorter isoform (E1).
      Source sequence(s)
      AA807046, BC001114
      Consensus CDS
      CCDS4756.1
      UniProtKB/Swiss-Prot
      P28062
      Related
      ENSP00000364015.2, ENST00000374881.3
      Conserved Domains (1) summary
      cd03761
      Location:69256
      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 ...
    2. NM_148919.4NP_683720.2  proteasome subunit beta type-8 isoform E2 precursor

      See identical proteins and their annotated locations for NP_683720.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and contains an alternate in-frame exon in the 5' coding region, compared to variant 1. Isoform E2 has a distinct N-terminus, compared to isoform E1.
      Source sequence(s)
      BC001114, BG485076, BM781620
      Consensus CDS
      CCDS4757.1
      UniProtKB/Swiss-Prot
      P28062
      UniProtKB/TrEMBL
      X5CMJ9
      Related
      ENSP00000364016.4, ENST00000374882.8
      Conserved Domains (1) summary
      cd03761
      Location:73260
      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 ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      32840717..32844679 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      4145582..4149544 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

      Range
      4252916..4256878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

      Range
      4084287..4088249 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

      Range
      4260070..4264032 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

      Range
      4139786..4143748 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

      Range
      4035005..4038967 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

      Range
      4239969..4243931 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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