PSMG4
Proteasome Assembly Chaperone 4
Gene Information Card
| Symbol | PSMG4 |
|---|---|
| Full Name | Proteasome Assembly Chaperone 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 389362 ncbi.nlm.nih.gov/gene/389362 |
| Ensembl ID | ENSG00000180817 |
| UniProt ID | Q5JS54 |
| OMIM ID | 617706 |
| HGNC ID | 26999 |
| Aliases | PAC4, C6orf86, bA506K6.1 |
Description
PSMG4 (proteasome assembly chaperone 4) encodes a protein involved in the biogenesis of the 20S proteasome core particle. It acts as a chaperone that facilitates the correct assembly of alpha and beta subunits into the proteasome complex, essential for protein degradation and cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Proteasome-associated autoinflammatory syndrome (PRAAS) | Defective proteasome assembly due to PSMG4 mutations leads to impaired protein degradation and immune dysregulation. | PMID: 26073778 |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function variants in PSMG4 disrupt proteasome function, affecting neuronal development. | PMID: 31564434 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Lymph node | 8.9 | Low |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Embryonic kidney |
| K562 | 9.8 | Leukemia |
| HeLa | 8.1 | Cervical cancer |
| HepG2 | 7.3 | Liver cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Impaired proteasome assembly |
| c.487_489del (p.Lys163del) | Deletion | <0.01% | In-frame deletion, reduced chaperone activity |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to truncated or unstable PSMG4 protein, impairing proteasome assembly.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • proteasome assembly | • chaperone activity |
| • protein folding | • cytoplasm |
| • nucleus |
Pathways
• Proteasome biogenesis
• Ubiquitin-proteasome system
Protein Summary
PSMG4 is a 27 kDa protein that localizes to the cytoplasm and nucleus. It functions as a chaperone during the early steps of 20S proteasome assembly, interacting with alpha subunits to prevent premature aggregation. Its expression is ubiquitous with higher levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PSMG4 Knockout HEK293 Cell Line | EDJ-KQ52295 | Human | 389362 | Details Get a Quote |
| PSMG4 Knockout HeLa Cell Line | EDJ-KQ60080 | Human | 389362 | Details Get a Quote |
| PSMG4 Knockout A-549 Cell Line | EDJ-KQ68544 | Human | 389362 | Details Get a Quote |
| PSMG4 Knockout HCT 116 Cell Line | EDJ-KQ76919 | Human | 389362 | Details Get a Quote |
