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    PSMB3 proteasome 20S subunit beta 3 [ Homo sapiens (human) ]

    Gene ID: 5691, updated on 3-Nov-2024

    Summary

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    Official Symbol
    PSMB3provided by HGNC
    Official Full Name
    proteasome 20S subunit beta 3provided by HGNC
    Primary source
    HGNC:HGNC:9540
    See related
    Ensembl:ENSG00000277791 MIM:602176; AllianceGenome:HGNC:9540
    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
    HC10-II
    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. The 26 S proteasome may be involved in trinucleotide repeat expansion, a phenomenon which is associated with many hereditary neurological diseases. Pseudogenes have been identified on chromosomes 2 and 12. Alternative splicing results in multiple transcript variants [provided by RefSeq, Sep 2013]
    Expression
    Ubiquitous expression in appendix (RPKM 52.0), lymph node (RPKM 51.4) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See PSMB3 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (38752741..38764225)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (39615825..39627303)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36908994..36920478)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene polycomb group ring finger 2 Neighboring gene uncharacterized LOC100287808 Neighboring gene tRNA-Asn (anticodon GTT) 2-5 Neighboring gene RNA, U6 small nuclear 866, pseudogene Neighboring gene phosphatidylinositol-5-phosphate 4-kinase type 2 beta Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36954986-36955804 Neighboring gene CWC25 spliceosome associated protein homolog Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36980282-36980913

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Gene expression profiling detects gene amplification and differentiates tumor types in breast cancer. Dressman MA, et al. Cancer Res, 2003 May 1. PMID 12727839
    2. The expression of inflammatory genes is upregulated in peripheral blood of patients with type 1 diabetes. Jin Y, et al. Diabetes Care, 2013 Sep. PMID 23637351, Free PMC Article
    3. AAV exploits subcellular stress associated with inflammation, endoplasmic reticulum expansion, and misfolded proteins in models of cystic fibrosis. Johnson JS, et al. PLoS Pathog, 2011 May. PMID 21625534, Free PMC Article
    4. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. Song N, et al. Mol Carcinog, 2023 Oct. PMID 37314216
    5. Sequence analyses and inter-species comparisons of three novel human proteasomal subunits, HsN3, HsC7-I and HsC10-II, confine potential proteolytic active-site residues. Nothwang HG, et al. Biochim Biophys Acta, 1994 Oct 18. PMID 7918633

    See all (181) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Silencing Core Spliceosome Sm Gene Expression Induces a Cytotoxic Splicing Switch in the Proteasome Subunit Beta 3 mRNA in Non-Small Cell Lung Cancer Cells.
      Title: Silencing Core Spliceosome Sm Gene Expression Induces a Cytotoxic Splicing Switch in the Proteasome Subunit Beta 3 mRNA in Non-Small Cell Lung Cancer Cells.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC4147

    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 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 
    Component Evidence Code Pubs
    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 PubMed 
    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 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-3
    Names
    beta-3
    epididymis secretory sperm binding protein
    proteasome (prosome, macropain) subunit, beta type, 3
    proteasome chain 13
    proteasome component C10-II
    proteasome subunit beta 3
    proteasome theta chain
    NP_002786.2

    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_002795.4 → NP_002786.2  proteasome subunit beta type-3

      See identical proteins and their annotated locations for NP_002786.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein.
      Source sequence(s)
      BC002570, BC013008, BG942618
      Consensus CDS
      CCDS11328.1
      UniProtKB/Swiss-Prot
      P31147, P49720, Q0P6J7, Q96E27
      UniProtKB/TrEMBL
      A0A384NL22
      Related
      ENSP00000483688.1, ENST00000619426.5
      Conserved Domains (1) summary
      cd03759
      Location:6 → 201
      proteasome_beta_type_3; proteasome beta type-3 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 ...

    RNA

    1. NR_104194.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC002570, BG184666, BG942618, CN412852
      Related
      ENST00000620309.4

    2. NR_104195.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC002570, BG942618, BQ428285
      Related
      ENST00000613870.4

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      38752741..38764225
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      2788060..2799544
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      39615825..39627303
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49720.2 GenPept UniProtKB/Swiss-Prot:P49720

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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