PSMC4: Proteasome 26S Subunit ATPase 4
A core regulatory component of the 26S proteasome involved in protein degradation and cellular homeostasis.
Gene Information Card
| Symbol | PSMC4 |
|---|---|
| Full Name | Proteasome 26S Subunit, ATPase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 5704 ncbi.nlm.nih.gov/gene/5704 |
| Ensembl ID | ENSG00000104884 |
| UniProt ID | P43686 |
| OMIM ID | 602707 |
| HGNC ID | 9551 |
| Aliases | S6b, TBP7, p42, MGC111102 |
Description
PSMC4 encodes a member of the AAA ATPase family that serves as a regulatory subunit of the 19S proteasome complex. This ATPase is essential for substrate unfolding and translocation into the 20S core particle during ubiquitin-dependent proteolysis. PSMC4 is involved in cell cycle regulation, apoptosis, and stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Altered proteasome activity may promote tumor growth | PMID: 25691885 |
| Hepatocellular carcinoma | Overexpression linked to poor prognosis | PMID: 29719272 |
| Neurodegenerative disorders (e.g., Alzheimer's) | Impaired proteasomal degradation leads to protein aggregation | PMID: 21593607 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 35.2 | High |
| Brain | 28.1 | High |
| Liver | 22.5 | Medium |
| Heart | 20.8 | Medium |
| Lung | 18.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 32.4 | Embryonic kidney |
| HeLa | 29.7 | Cervical carcinoma |
| K562 | 26.1 | Leukemia |
| HepG2 | 24.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Ala34Val) | Missense | <0.01% | Unknown functional impact |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Potential loss of ATPase activity |
| c.832A>G (p.Ile278Val) | Missense | 0.02% | Benign |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may impair ATPase activity and proteasome function.
Gain of Function (GOF)
Not well documented; overexpression in cancers suggests possible gain-of-function.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATP hydrolysis activity |
| • proteasome regulatory particle assembly | • ubiquitin-dependent protein catabolic process |
| • protein unfolding |
Pathways
• Proteasome (KEGG: hsa03050)
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Parkinson disease (KEGG: hsa05012)
Protein Summary
PSMC4 (S6b) is a 418-amino acid AAA ATPase that forms part of the 19S regulatory particle of the 26S proteasome. It contains an N-terminal coiled-coil domain and a C-terminal ATPase domain. The protein hydrolyzes ATP to drive substrate unfolding and translocation into the proteolytic core, playing a critical role in cellular protein quality control.
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