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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PSMB9
proteasome 20S subunit beta 9
Chromosome 6 · 6p21.32
NCBI Gene: 5698Ensembl: ENSG00000239836.7HGNC: HGNC:9546UniProt: A0A1U9X8D7
140PubMed Papers
22Diseases
6Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneProtease
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolprotein bindingextracellular exosomeproteasome-mediated ubiquitin-dependent protein catabolic processmultiple myelomaMHC class I deficiencyneoplasmproteasome-associated autoinflammatory syndrome 3
✦AI Summary

PSMB9 (proteasome 20S subunit beta 9) is an immunoproteasome-specific catalytic subunit that functions as a key component of the proteasome's antigen processing machinery. As part of the 20S proteasome core complex, PSMB9 replaces the constitutive PSMB6 subunit to increase the immunoproteasome's capacity to cleave peptides after hydrophobic and basic residues, thereby generating class I major histocompatibility complex-binding peptides essential for CD8+ T cell activation 1. Mechanistically, PSMB9 expression is upregulated in response to mitochondrial dysfunction through an EEF1A2-dependent pathway, constituting a cellular defense mechanism to preserve proteostasis under stress 2. PSMB9 transcription can be induced via the NONO/PSMB9/ZEB1 signaling axis, which regulates vascular adhesion molecule expression 3. Clinically, PSMB9 variants associate with multiple immune-mediated diseases, including alopecia areata 4. In cancer contexts, PSMB9 demonstrates tumor-suppressive functions: it enhances CD8+ T cell infiltration and cytotoxic marker expression in triple-negative breast cancer 5 and acts as a favorable prognostic marker in melanoma, correlating with immunotherapy response and IFN-γ sensitivity 1. PSMB9 upregulation in natural killer cells associates with slower multiple myeloma progression 6. Mutations in PSMB9 underlie proteasome-associated autoinflammatory syndromes, highlighting its role in immune homeostasis.

Sources cited
1
PSMB9 is strongly correlated with immunotherapy response and acts as a melanoma tumor suppressor through CD8+ T cell activation and IFN-γ pathway modulation
PMID: 37944578
2
PSMB9 expression is upregulated in response to mitochondrial dysfunction in an EEF1A2-dependent manner to preserve cellular proteostasis
PMID: 37433777
3
PSMB9 is induced via the NONO/PSMB9/ZEB1 axis and regulates vascular inflammation through upregulation of VCAM1 and ICAM1
PMID: 38084631
4
PSMB9 variants associate with alopecia areata and immune-mediated diseases, and can modulate CDSN expression affecting multiple autoimmune conditions
PMID: 39009607
5
D-xylose-regulated PSMB9 pathway governs tumor-intrinsic immunogenicity and sensitivity to immune checkpoint blockade in triple-negative breast cancer
PMID: 39520982
6
PSMB9 upregulation in natural killer cells of fast progressors correlates with more rapid multiple myeloma progression
PMID: 36969740
7
PSMB9 is identified as a causally influential eGene in CD8 T and NK cells affecting epigenetic age acceleration through immune regulation pathways
PMID: 41378907
Disease Associationsⓘ22
multiple myelomaOpen Targets
0.60Moderate
MHC class I deficiencyOpen Targets
0.57Moderate
neoplasmOpen Targets
0.53Moderate
proteasome-associated autoinflammatory syndrome 3Open Targets
0.51Moderate
Mantle cell lymphomaOpen Targets
0.50Moderate
Immunodeficiency by defective expression of HLA class 1Open Targets
0.40Moderate
amyloidosisOpen Targets
0.37Weak
proteasome-associated autoinflammatory syndrome 6Open Targets
0.36Weak
proteosome-associated autoinflammatory syndromeOpen Targets
0.31Weak
glioblastoma multiformeOpen Targets
0.28Weak
Proteasome disability syndromeOpen Targets
0.27Weak
brain glioblastomaOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
ankylosing spondylitisOpen Targets
0.14Weak
type 1 diabetes mellitusOpen Targets
0.13Weak
non-small cell lung carcinomaOpen Targets
0.12Weak
lymphomaOpen Targets
0.12Weak
Waldenstrom macroglobulinemiaOpen Targets
0.11Weak
non-Hodgkins lymphomaOpen Targets
0.11Weak
cancerOpen Targets
0.10Weak
Proteasome-associated autoinflammatory syndrome 3UniProt
Proteasome-associated autoinflammatory syndrome 6UniProt
Pathogenic Variants2
NM_002800.5(PSMB9):c.128+1G>ALikely pathogenic
not provided
★☆☆☆2024
NM_002800.5(PSMB9):c.467G>A (p.Gly156Asp)Pathogenic
Proteasome-associated autoinflammatory syndrome 6|proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID)
☆☆☆☆2024→ Residue 156
View on ClinVar ↗
Drug Targets6
BORTEZOMIB D-MANNITOLApproved
26S proteasome inhibitor
Mantle cell lymphoma
CARFILZOMIBApproved
26S proteasome inhibitor
multiple myeloma
IXAZOMIBApproved
26S proteasome inhibitor
multiple myeloma
IXAZOMIB CITRATEApproved
26S proteasome inhibitor
multiple myeloma
MARIZOMIBPhase III
20S proteasome inhibitor
brain glioblastoma
OPROZOMIBPhase II
26S proteasome inhibitor
Hodgkins lymphoma
Related Genes
PSMA1Protein interaction100%PSMA2Protein interaction100%PSMA6Protein interaction100%PSMB5Protein interaction100%PSMB6Protein interaction100%PSMB7Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
54%
Liver
54%
Heart
39%
Ovary
25%
Brain
17%
Gene Interaction Network
Click a node to explore
PSMB9PSMA1PSMA2PSMA6PSMB5PSMB6PSMB7
PROTEIN STRUCTURE
Preparing viewer…
PDB7AWE · 2.29 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.41–0.92]
RankingsWhere PSMB9 stands among ~20K protein-coding genes
  • #3,290of 20,598
    Most Researched140 · top quartile
  • #408of 1,025
    FDA-Approved Drug Targets4
  • #4,276of 5,498
    Most Pathogenic Variants2
  • #8,455of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedPSMB9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Acalabrutinib Versus Ibrutinib in Previously Treated Chronic Lymphocytic Leukemia: Results of the First Randomized Phase III Trial.
PMID: 34310172
J Clin Oncol · 2021
1.00
2
LncRNA
PMID: 38084631
Circ Res · 2024
0.90
3
Large-scale whole-exome sequencing analyses identified protein-coding variants associated with immune-mediated diseases in 350,770 adults.
PMID: 39009607
Nat Commun · 2024
0.80
4
DHDH-mediated D-xylose metabolism induces immune evasion in triple-negative breast cancer.
PMID: 39520982
Med · 2025
0.70
5
Immunoproteasome-specific subunit PSMB9 induction is required to regulate cellular proteostasis upon mitochondrial dysfunction.
PMID: 37433777
Nat Commun · 2023
0.60