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    PSMB9 proteasome 20S subunit beta 9 [ Homo sapiens (human) ]

    Gene ID: 5698, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PSMB9provided by HGNC
    Official Full Name
    proteasome 20S subunit beta 9provided by HGNC
    Primary source
    HGNC:HGNC:9546
    See related
    Ensembl:ENSG00000240065 MIM:177045; AllianceGenome:HGNC:9546
    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
    LMP2; PRAAS3; PRAAS6; PSMB6i; RING12; beta1i
    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 1 (proteasome beta 6 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. [provided by RefSeq, Mar 2010]
    Expression
    Broad expression in spleen (RPKM 72.3), lymph node (RPKM 60.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PSMB9 in Genome Data Viewer
    Location:
    6p21.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (32854192..32859851)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (32675567..32681226)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32821969..32827628)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene PSMB8 antisense RNA 1 (head to head) Neighboring gene proteasome 20S subunit beta 8 Neighboring gene transporter 1, ATP binding cassette subfamily B member Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 1 Neighboring gene uncharacterized LOC100294145 Neighboring gene major histocompatibility complex, class I, Z (pseudogene)

    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. Transcriptome-wide association study identifies PSMB9 as a susceptibility gene for coal workers' pneumoconiosis. Yuan J, et al. Environ Toxicol, 2022 Aug. PMID 35506645
    2. C-terminal domain of the Epstein-Barr virus LMP2A membrane protein contains a clustering signal. Matskova L, et al. J Virol, 2001 Nov. PMID 11602734, Free PMC Article
    3. A novel diagnostic biomarker for human uterine leiomyosarcoma: PSMB9/β1i. Hayashi T, et al. Chin Clin Oncol, 2017 Apr. PMID 28482675
    4. Association of MHC region SNPs with irritant susceptibility in healthcare workers. Yucesoy B, et al. J Immunotoxicol, 2016 Sep. PMID 27258892, Free PMC Article
    5. LMP2, a novel immunohistochemical marker to distinguish renal oncocytoma from the eosinophilic variant of chromophobe renal cell carcinoma. Zheng G, et al. Exp Mol Pathol, 2013 Feb. PMID 22705098, Free PMC Article

    See all (130) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deciphering the tumor-suppressive role of PSMB9 in melanoma through multi-omics and single-cell transcriptome analyses.
      Title: Deciphering the tumor-suppressive role of PSMB9 in melanoma through multi-omics and single-cell transcriptome analyses.
    2. Immunohistochemical Identification and Assessment of the Location of Immunoproteasome Subunits LMP2 and LMP7 in Acquired Cholesteatoma.
      Title: Immunohistochemical Identification and Assessment of the Location of Immunoproteasome Subunits LMP2 and LMP7 in Acquired Cholesteatoma.
    3. Immunoproteasome-specific subunit PSMB9 induction is required to regulate cellular proteostasis upon mitochondrial dysfunction.
      Title: Immunoproteasome-specific subunit PSMB9 induction is required to regulate cellular proteostasis upon mitochondrial dysfunction.
    4. Variants in PSMB9 and FGR differentially affect Parkinson's disease risk in GBA and LRRK2 mutation carriers.
      Title: Variants in PSMB9 and FGR differentially affect Parkinson's disease risk in GBA and LRRK2 mutation carriers.
    5. Increased expression of the immunoproteasome subunits PSMB8 and PSMB9 by cancer cells correlate with better outcomes for triple-negative breast cancers.
      Title: Increased expression of the immunoproteasome subunits PSMB8 and PSMB9 by cancer cells correlate with better outcomes for triple-negative breast cancers.
    6. Identification of PSMB9 and CXCL13 as Immune-related Diagnostic Markers for Rheumatoid Arthritis by Machine Learning.
      Title: Identification of PSMB9 and CXCL13 as Immune-related Diagnostic Markers for Rheumatoid Arthritis by Machine Learning.
    7. Transcriptome-wide association study identifies PSMB9 as a susceptibility gene for coal workers' pneumoconiosis.
      Title: Transcriptome-wide association study identifies PSMB9 as a susceptibility gene for coal workers' pneumoconiosis.
    8. Heterozygous missense variant of the proteasome subunit beta-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
      Title: Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
    9. Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor.
      Title: Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor.
    10. The dominant model of LMP2 CfoI might be a risk factor for IDDM in Asian population. Whereas, the allelic and dominant models of LMP7 G37360T might be protective factors for IDDM in Caucasian population
      Title: The genetic association between LMP2 and LMP7 polymorphisms and susceptibility of insulin dependent diabetes mellitus: A meta-analysis.
    Submit: New GeneRIF Correction See all GeneRIFs (54)

    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
    Proteasome-associated autoinflammatory syndrome 3
    MedGen: C4747850 OMIM: 617591 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.
    EBI GWAS Catalog
    Genome-wide association study identifies susceptibility loci for IgA nephropathy.
    EBI GWAS Catalog
    Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.
    EBI GWAS Catalog

    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 represses transcription of the LMP2 gene by competing with STAT1 (signal transducer and activator of transcription 1) for binding to IRF-1 (interferon-regulatory factor-1) at the LMP2 promoter 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
    tat HIV-1 Tat slightly enhances the activity of the purified 26 S proteasome PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human proteasome (prosome, macropain) subunit, beta type, 9 (PSMB9) at amino acid residues 25-26 by the HIV-1 protease 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

    • MGC70470

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 immune system process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cysteine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    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
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of proteasome complex TAS
    Traceable Author Statement
    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
    		  
    part_of spermatoproteasome complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    proteasome subunit beta type-9
    Names
    large multifunctional peptidase 2
    low molecular mass protein 2
    macropain chain 7
    multicatalytic endopeptidase complex chain 7
    proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)
    proteasome catalytic subunit 1i
    proteasome chain 7
    proteasome subunit beta 6i
    proteasome subunit beta 9
    proteasome subunit beta-1i
    proteasome subunit beta1i
    proteasome-related gene 2
    really interesting new gene 12 protein
    NP_002791.1

    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_002800.5 → NP_002791.1  proteasome subunit beta type-9 precursor

      See identical proteins and their annotated locations for NP_002791.1

      Status: REVIEWED

      Source sequence(s)
      AI310206, BC065513, BF513693
      Consensus CDS
      CCDS4759.1
      UniProtKB/Swiss-Prot
      B0V0T1, P28065, Q16523, Q5JNW4
      UniProtKB/TrEMBL
      A0A1U9X8D7, A0A1U9X8E2, A0A1U9X8E3
      Related
      ENSP00000363993.2, ENST00000374859.3
      Conserved Domains (1) summary
      cd03762
      Location:21 → 207
      proteasome_beta_type_6; proteasome beta type-6 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
      32854192..32859851
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      4159057..4164713
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      4266391..4272052
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      4097762..4103421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      4273545..4279205
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      4153261..4158917
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      4048480..4054140
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      4253444..4259100
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      32675567..32681226
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_148954.2: Suppressed sequence

      Description
      NM_148954.2: This RefSeq was permanently suppressed because it represents a poorly supported variant with non-consensus splice sites.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P28065.2 GenPept UniProtKB/Swiss-Prot:P28065

    Gene LinkOut

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

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