PSMA7: Proteasome 20S Subunit Alpha 7
A core component of the 20S proteasome complex involved in protein degradation and cellular homeostasis.
Gene Information Card
| Symbol | PSMA7 |
|---|---|
| Full Name | proteasome 20S subunit alpha 7 |
| Gene Type | protein coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 5688 ncbi.nlm.nih.gov/gene/5688 |
| Ensembl ID | ENSG00000101126 |
| UniProt ID | O14818 |
| OMIM ID | 606204 |
| HGNC ID | 9536 |
| Aliases | C6, HEL-S-276, XAPC7, proteasome subunit alpha type-7 |
Description
PSMA7 encodes the alpha 7 subunit of the 20S proteasome core complex. This subunit is essential for proteasome assembly and proteolytic activity, mediating the degradation of ubiquitinated proteins. It plays a role in cell cycle regulation, apoptosis, and antigen processing. PSMA7 is also implicated in neurodegenerative disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of PSMA7 promotes tumor growth via enhanced proteasomal degradation of tumor suppressors | PMID: 25605248 |
| Alzheimer disease | PSMA7 interacts with tau and amyloid-beta, contributing to proteostatic dysfunction | PMID: 17984305 |
| Prostate cancer | PSMA7 upregulation correlates with androgen receptor signaling and poor prognosis | PMID: 23542345 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.5 | High |
| Liver | 22.3 | High |
| Heart | 14.2 | Medium |
| Kidney | 16.8 | Medium |
| Lung | 12.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.4 | High expression in embryonic kidney cells |
| HeLa | 20.1 | Cervical cancer cell line |
| HepG2 | 23.7 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 19.8 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | <0.01% | Unknown functional impact; rare population variant |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Likely loss of function; reported in ClinVar |
| c.538C>T (p.Arg180Trp) | Missense | <0.01% | Predicted damaging; associated with proteasome dysfunction |
Mutation functional classification
Loss of Function (LOF)
Start loss and nonsense variants likely lead to reduced proteasome assembly and activity.
Gain of Function (GOF)
Not well documented; missense variants may alter substrate specificity.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa03050 - Proteasome
• hsa04120 - Ubiquitin mediated proteolysis
• hsa05022 - Pathways of neurodegeneration - multiple diseases
Protein Summary
PSMA7 is a 248-amino-acid protein that forms part of the alpha ring of the 20S proteasome. It is involved in the ATP-dependent degradation of ubiquitinated proteins. The protein is highly conserved and expressed in all tissues. Structural studies show it interacts with other alpha subunits to stabilize the proteasome core.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID |
|---|
