PSMC1: Proteasome 26S Subunit ATPase 1
Essential component of the 26S proteasome involved in ATP-dependent protein degradation
Gene Information Card
| Symbol | PSMC1 |
|---|---|
| Full Name | Proteasome 26S Subunit ATPase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.11 |
| NCBI Gene ID | 5700 ncbi.nlm.nih.gov/gene/5700 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | P62191 |
| OMIM ID | 602707 |
| HGNC ID | 9547 |
| Aliases | S4, p56, TBP1, RPT2, MGC2452 |
Description
PSMC1 encodes a member of the AAA ATPase family that serves as a regulatory subunit of the 26S proteasome. This ATPase is essential for the ATP-dependent unfolding and translocation of ubiquitinated substrates into the proteolytic core, playing a critical role in cellular protein homeostasis, cell cycle control, 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 | ClinVar, OMIM |
| Hepatocellular carcinoma | Overexpression of PSMC1 correlates with poor prognosis; promotes cell proliferation via enhanced proteasomal degradation of tumor suppressors | COSMIC, NCBI |
| Neurodegenerative disorders (e.g., Alzheimer's disease) | Dysregulation of proteasomal degradation leads to accumulation of misfolded proteins | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Liver | 35.1 | High |
| Brain | 28.7 | Medium |
| Heart | 25.3 | Medium |
| Lung | 22.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 42.5 | High expression |
| HeLa | 38.1 | High expression |
| K562 | 30.4 | Medium expression |
| HepG2 | 35.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.239G>A (p.Arg80Gln) | Missense | Rare | Impaired ATPase activity; associated with PRAAS |
| c.679C>T (p.Arg227*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1072A>G (p.Thr358Ala) | Missense | 0.01% (gnomAD) | Reduced proteasome assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce ATPase activity or proteasome assembly lead to impaired protein degradation and cellular stress.
Gain of Function (GOF)
Not well documented; overexpression in cancers may confer a proliferative advantage.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg80Gln) may interfere with wild-type subunit function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATP hydrolysis activity |
| • proteasome regulatory particle assembly | • ubiquitin-dependent protein catabolic process |
| • protein unfolding | • cellular response to stress |
Pathways
• Proteasome (KEGG hsa03050)
• Ubiquitin mediated proteolysis (KEGG hsa04120)
• Antigen processing and presentation (KEGG hsa04612)
Protein Summary
PSMC1 (also known as RPT2 or S4) is a 440-amino acid ATPase that forms part of the 19S regulatory particle of the 26S proteasome. It contains an N-terminal coiled-coil domain for subunit interaction and a C-terminal AAA ATPase domain that provides the energy for substrate unfolding and translocation. The protein is highly conserved across eukaryotes and is essential for viability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PSMC1 Knockout HEK293 Cell Line | EDJ-KQ50546 | Human | 5700 | Details Get a Quote |
| PSMC1 Knockout HeLa Cell Line | EDJ-KQ54249 | Human | 5700 | Details Get a Quote |
| PSMC1 Knockout A-549 Cell Line | EDJ-KQ62740 | Human | 5700 | Details Get a Quote |
| PSMC1 Knockout HCT 116 Cell Line | EDJ-KQ71211 | Human | 5700 | Details Get a Quote |
