PSMA5 Gene - Proteasome 20S Subunit Alpha 5
Essential component of the 20S core proteasome complex involved in protein degradation and cellular homeostasis.
Gene Information Card
| Symbol | PSMA5 |
|---|---|
| Full Name | Proteasome 20S Subunit Alpha 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 5686 ncbi.nlm.nih.gov/gene/5686 |
| Ensembl ID | ENSG00000143106 |
| UniProt ID | P28066 |
| OMIM ID | 176844 |
| HGNC ID | 9534 |
| Aliases | PSC5, ZETA, proteasome subunit alpha type-5 |
Description
PSMA5 encodes the alpha 5 subunit of the 20S core proteasome complex. This subunit is involved in the assembly and catalytic activity of the proteasome, which degrades ubiquitinated proteins. PSMA5 plays a critical role in cellular protein quality control, cell cycle regulation, and stress response.
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. | PMID: 26074864 |
| Multiple myeloma | Overexpression of PSMA5 contributes to increased proteasome activity and resistance to proteasome inhibitors. | PMID: 23341540 |
| Neurodegenerative disorders (e.g., Alzheimer's disease) | Dysregulation of proteasome subunits, including PSMA5, may impair clearance of aggregated proteins. | PMID: 21514298 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 15.3 | Medium |
| Liver | 18.7 | High |
| Kidney | 14.2 | Medium |
| Testis | 20.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.4 | High expression |
| HeLa | 19.8 | High expression |
| K562 | 16.5 | Medium expression |
| MCF7 | 14.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.404C>T (p.Pro135Leu) | Missense | Rare | Impaired proteasome assembly |
| c.637G>A (p.Gly213Arg) | Missense | Rare | Reduced catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt start codon or critical residues impair proteasome assembly and activity.
Gain of Function (GOF)
Not reported for PSMA5.
Dominant Negative (DN)
Some missense mutations may interfere with wild-type subunit incorporation, reducing overall proteasome function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa03050 - Proteasome
• hsa04120 - Ubiquitin mediated proteolysis
• hsa05016 - Huntington disease
Protein Summary
PSMA5 encodes the alpha 5 subunit of the 20S core proteasome. This protein is essential for proteasome assembly and proteolytic activity. It is ubiquitously expressed and involved in degradation of misfolded or damaged proteins, cell cycle control, and antigen processing. Dysregulation is linked to autoinflammatory syndromes, cancer, and neurodegeneration.
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