PSMB6 Gene (Proteasome 20S Subunit Beta 6)
Essential component of the proteasome core particle involved in protein degradation and antigen processing
Gene Information Card
| Symbol | PSMB6 |
|---|---|
| Full Name | Proteasome 20S subunit beta 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 5694 ncbi.nlm.nih.gov/gene/5694 |
| Ensembl ID | ENSG00000142507 |
| UniProt ID | P28072 |
| OMIM ID | 600307 |
| HGNC ID | 9542 |
| Aliases | LMPY, Y, delta, proteasome beta 6 subunit |
Description
PSMB6 encodes the beta 6 subunit of the 20S core proteasome complex, which is responsible for the degradation of ubiquitinated proteins. This subunit has chymotrypsin-like protease activity and is essential for antigen processing via the MHC class I pathway. PSMB6 is constitutively expressed and plays a role in cellular protein homeostasis, cell cycle regulation, and immune surveillance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Proteasome-associated autoinflammatory syndrome (PRAAS) | Loss-of-function mutations impair proteasome assembly and activity, leading to chronic inflammation and immune dysregulation | ClinVar, OMIM |
| Multiple myeloma | Overexpression of PSMB6 contributes to proteasome hyperactivity; bortezomib resistance linked to PSMB6 mutations | COSMIC, NCBI |
| Neurodegenerative disorders (e.g., Alzheimer's) | Dysregulated proteasomal degradation of tau and beta-amyloid; reduced PSMB6 expression observed | NCBI, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.8 | Medium |
| Brain | 6.2 | Low |
| Heart | 8.1 | Medium |
| Lung | 9.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| K562 | 9.8 | Medium expression |
| MCF7 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214G>A (p.Gly72Arg) | Missense | <0.01% | Loss of proteolytic activity; associated with PRAAS |
| c.448C>T (p.Arg150*) | Nonsense | <0.01% | Premature truncation; loss of function |
| c.332A>G (p.Asn111Ser) | Missense | <0.01% | Reduced proteasome assembly; linked to autoinflammation |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations impair proteasome catalytic activity or assembly, leading to protein accumulation and cellular stress.
Gain of Function (GOF)
Not reported for PSMB6.
Dominant Negative (DN)
Some missense variants (e.g., p.Gly72Arg) may interfere with wild-type subunit incorporation, reducing overall proteasome function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Proteasome degradation pathway (KEGG: hsa03050)
• Antigen processing and presentation (KEGG: hsa04612)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
Protein Summary
PSMB6 encodes the beta 6 subunit of the 20S proteasome, a barrel-shaped protease complex. This subunit contains the chymotrypsin-like active site responsible for cleaving hydrophobic residues. The protein is synthesized as a proform and undergoes autocatalytic processing to become active. PSMB6 is essential for removing damaged or misfolded proteins and generating peptides for MHC class I presentation. Mutations in PSMB6 are linked to proteasome-associated autoinflammatory syndromes and may contribute to cancer therapy resistance.
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