PSME1: Proteasome Activator Subunit 1
A key regulator of proteasome function in antigen processing and immune response
Gene Information Card
| Symbol | PSME1 |
|---|---|
| Full Name | Proteasome Activator Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 5720 ncbi.nlm.nih.gov/gene/5720 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q06323 |
| OMIM ID | 600654 |
| HGNC ID | 9567 |
| Aliases | PA28A, PA28alpha, REGalpha |
Description
PSME1 encodes the alpha subunit of the proteasome activator PA28 (also known as 11S regulator). This protein binds to the 20S proteasome and enhances the generation of peptides for MHC class I antigen presentation. It is involved in immunoproteasome assembly and plays a role in cellular stress responses and protein degradation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune disorders | Altered PA28 expression may affect antigen presentation and immune tolerance | PMID: 12368236 |
| Cancer | PSME1 overexpression in certain tumors may influence immune evasion | PMID: 15601829 |
| Viral infections | PA28 enhances viral peptide presentation; dysregulation linked to chronic infection | PMID: 10900005 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | High |
| Spleen | 11.8 | High |
| Bone marrow | 10.2 | High |
| Lung | 6.3 | Medium |
| Liver | 5.1 | Medium |
| Brain | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 12.1 | High expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 7.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Synonymous | <0.01% | No effect |
| c.200G>A | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in PSME1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Proteasome degradation (Reactome: R-HSA-983168)
• Antigen processing: Cross-presentation (Reactome: R-HSA-1236974)
• Immunoproteasome assembly (Reactome: R-HSA-1236975)
Protein Summary
PSME1 encodes the PA28 alpha subunit, a component of the 11S proteasome regulator. This protein forms a heptameric ring that binds to the 20S proteasome, enhancing its ability to generate peptides for MHC class I presentation. It is highly expressed in immune tissues and plays a critical role in adaptive immunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PSME1 Knockout HEK293 Cell Line | EDJ-KQ2869 | Human | 5720 | Details Get a Quote |
| PSME1 Knockout A-549 Cell Line | EDJ-KQ23903 | Human | 5720 | Details Get a Quote |
| PSME1 Knockout HCT 116 Cell Line | EDJ-KQ23904 | Human | 5720 | Details Get a Quote |
| PSME1 Knockout HeLa Cell Line | EDJ-KQ23905 | Human | 5720 | Details Get a Quote |
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