PSMA6: Proteasome 20S Subunit Alpha 6
A core component of the proteasome complex involved in protein degradation and cellular homeostasis.
Gene Information Card
| Symbol | PSMA6 |
|---|---|
| Full Name | Proteasome 20S Subunit Alpha 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q13.2 |
| NCBI Gene ID | 5687 ncbi.nlm.nih.gov/gene/5687 |
| Ensembl ID | ENSG00000100888 |
| UniProt ID | P60900 |
| OMIM ID | 602854 |
| HGNC ID | 9534 |
| Aliases | PROS-28.1, p27K, IOTA |
Description
PSMA6 encodes the alpha 6 subunit of the 20S core proteasome complex. This subunit is essential for proteasome assembly and proteolytic activity, mediating the degradation of ubiquitinated proteins. It plays a critical role in cellular processes including cell cycle regulation, apoptosis, and antigen processing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coronary artery disease | PSMA6 variants may alter proteasome function affecting vascular inflammation and lipid metabolism | PMID: 17293864 |
| Type 2 diabetes | Potential association with insulin resistance via proteasome-mediated degradation of insulin signaling components | PMID: 19073915 |
| Autoimmune diseases | Dysregulated proteasome activity linked to altered antigen presentation and immune response | PMID: 21572415 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Heart | 22.3 | High |
| Liver | 18.7 | Medium |
| Kidney | 20.1 | High |
| Lung | 15.4 | Medium |
| Spleen | 25.6 | High |
| Testis | 30.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 35.1 | High expression in embryonic kidney cells |
| HeLa | 28.9 | High expression in cervical cancer cells |
| K562 | 22.4 | Moderate expression in leukemia cells |
| HepG2 | 19.8 | Moderate expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.52C>T (p.Arg18Cys) | Missense | Rare | May affect protein stability and proteasome assembly |
| c.214G>A (p.Val72Met) | Missense | Rare | Potential impact on substrate binding |
| c.487A>G (p.Ile163Val) | Missense | Common (MAF ~0.05) | Likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in PSMA6; homozygous knockout is likely lethal in humans.
Gain of Function (GOF)
Not described for PSMA6.
Dominant Negative (DN)
Not reported for PSMA6.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa03050 - Proteasome (KEGG)
• R-HSA-983168 - Antigen processing: Ubiquitination & Proteasome degradation (Reactome)
• R-HSA-8951664 - p53-independent DNA damage response (Reactome)
Protein Summary
PSMA6 (proteasome subunit alpha 6) is a 27 kDa protein that forms part of the 20S proteasome core particle. It is located in the outer alpha ring and is required for the assembly and gate function of the proteasome. The protein is ubiquitously expressed and highly conserved across eukaryotes.
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