PSMB10: Proteasome 20S Subunit Beta 10
A key component of the immunoproteasome involved in antigen processing and immune response.
Gene Information Card
| Symbol | PSMB10 |
|---|---|
| Full Name | Proteasome 20S Subunit Beta 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 5699 ncbi.nlm.nih.gov/gene/5699 |
| Ensembl ID | ENSG00000105281 |
| UniProt ID | P40306 |
| OMIM ID | 176847 |
| HGNC ID | 9539 |
| Aliases | LMP10, MECL1, beta2i, proteasome subunit beta type-10 |
Description
PSMB10 encodes proteasome subunit beta type-10, also known as LMP10 or MECL1. This subunit is a component of the immunoproteasome, a specialized proteasome complex that replaces the constitutive beta subunits (beta1, beta2, beta5) with beta1i (PSMB9), beta2i (PSMB10), and beta5i (PSMB8) upon interferon-gamma stimulation. The immunoproteasome enhances the generation of peptides for MHC class I antigen presentation, playing a critical role in adaptive immunity. PSMB10 is essential for optimal CD8+ T-cell responses and is implicated in autoimmune diseases, viral infections, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Proteasome-associated autoinflammatory syndrome (PRAAS) | Loss-of-function mutations in PSMB10 impair immunoproteasome assembly and function, leading to dysregulated type I interferon signaling and autoinflammation. | OMIM #256040; PMID: 25683119 |
| Cervical cancer | PSMB10 expression is upregulated in cervical cancer tissues and correlates with immune infiltration and prognosis. | PMID: 31570863 |
| Hepatocellular carcinoma | High PSMB10 expression is associated with improved survival and immune cell infiltration in liver cancer. | PMID: 32665974 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | High |
| Spleen | 11.8 | High |
| Bone marrow | 9.2 | Medium |
| Lung | 6.1 | Medium |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.7 | Embryonic kidney cells |
| HeLa | 10.2 | Cervical adenocarcinoma |
| K562 | 12.1 | Chronic myelogenous leukemia |
| Jurkat | 14.5 | T-cell leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.224G>A (p.Arg75Gln) | Missense | Rare | Impaired immunoproteasome assembly; associated with PRAAS |
| c.532C>T (p.Arg178Trp) | Missense | Rare | Reduced proteolytic activity; linked to autoinflammatory disease |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression; severe PRAAS phenotype |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that impair immunoproteasome assembly or catalytic activity, leading to autoinflammatory syndromes.
Gain of Function (GOF)
Not reported in literature.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg75Gln) may exert dominant-negative effects by disrupting immunoproteasome complex formation.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004175 - endopeptidase activity | • GO:0005839 - proteasome core complex |
| • GO:0010498 - proteasomal protein catabolic process | • GO:0002474 - antigen processing and presentation of exogenous peptide antigen via MHC class I |
| • GO:0031145 - anaphase-promoting complex-dependent catabolic process |
Pathways
• Immunoproteasome pathway (Reactome: R-HSA-1236974)
• Antigen processing and presentation (KEGG: hsa04612)
• Proteasome degradation (KEGG: hsa03050)
Protein Summary
PSMB10 encodes the beta-2i subunit of the immunoproteasome. This 273-amino acid protein (UniProt P40306) is synthesized as a proprotein and cleaved to form the mature catalytic subunit. It possesses chymotrypsin-like activity and is induced by interferon-gamma. The immunoproteasome is crucial for generating antigenic peptides for MHC class I presentation, thereby influencing CD8+ T-cell responses. PSMB10 is expressed predominantly in immune tissues and cells, and its dysfunction is linked to autoinflammatory diseases and cancer immune evasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PSMB10 Knockout HEK293 Cell Line | EDJ-KQ1927 | Human | 5699 | Details Get a Quote |
| PSMB10 Knockout A-549 Cell Line | EDJ-KQ23219 | Human | 5699 | Details Get a Quote |
| PSMB10 Knockout HCT 116 Cell Line | EDJ-KQ23221 | Human | 5699 | Details Get a Quote |
| PSMB10 Knockout HeLa Cell Line | EDJ-KQ23222 | Human | 5699 | Details Get a Quote |
| PSMB10 Knockout HAP1 Cell Line | EDC08303 | Human | 5699 | Details Get a Quote |
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