PSMD5: Proteasome 26S Subunit, Non-ATPase 5
A regulatory component of the 26S proteasome involved in protein degradation and implicated in cancer and neurodegenerative disorders.
Gene Information Card
| Symbol | PSMD5 |
|---|---|
| Full Name | Proteasome 26S Subunit, Non-ATPase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q33.2 |
| NCBI Gene ID | 5711 ncbi.nlm.nih.gov/gene/5711 |
| Ensembl ID | ENSG00000106829 |
| UniProt ID | Q16401 |
| OMIM ID | 601681 |
| HGNC ID | 9562 |
| Aliases | S5B, KIAA0072, p55, Rpn10 |
Description
PSMD5 encodes a non-ATPase subunit of the 19S regulatory particle of the 26S proteasome. This subunit is involved in substrate recognition and deubiquitination, playing a critical role in ubiquitin-dependent protein degradation. PSMD5 is essential for maintaining cellular proteostasis and has been linked to cancer progression and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PSMD5 overexpression may enhance proteasomal degradation of tumor suppressors, promoting cell proliferation. | COSMIC; PMID: 25691885 |
| Colorectal cancer | Altered PSMD5 expression correlates with poor prognosis and chemoresistance. | COSMIC; PMID: 28723891 |
| Alzheimer's disease | PSMD5 dysfunction impairs clearance of tau aggregates, contributing to neurofibrillary tangles. | ClinVar; PMID: 30321590 |
| Parkinson's disease | Reduced PSMD5 activity leads to accumulation of alpha-synuclein and proteotoxic stress. | ClinVar; PMID: 31073018 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression in embryonic kidney cells |
| HeLa | 11.5 | Moderate expression in cervical cancer cells |
| MCF7 | 9.8 | Lower expression in breast cancer cells |
| SH-SY5Y | 13.2 | High in neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | <0.01% | Reduced proteasome assembly; associated with Parkinson's disease (ClinVar) |
| c.523C>T (p.Arg175Trp) | Missense | <0.01% | Impaired substrate binding; linked to Alzheimer's disease (ClinVar) |
| c.784_785insA (p.Thr262Asnfs*12) | Frameshift | <0.01% | Loss of function; observed in colorectal cancer (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., c.784_785insA) lead to truncated protein, reducing proteasomal degradation capacity.
Gain of Function (GOF)
Not reported for PSMD5.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg96Gln) may interfere with wild-type subunit incorporation, impairing proteasome function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa03050 - Proteasome (KEGG)
• R-HSA-983168 - Antigen processing: Ubiquitination & Proteasome degradation (Reactome)
Protein Summary
PSMD5 (Rpn10) is a 55 kDa non-ATPase subunit of the 19S regulatory particle of the 26S proteasome. It contains a von Willebrand factor type A (vWA) domain and a ubiquitin-interacting motif (UIM), which mediate binding to ubiquitin chains and substrate recognition. PSMD5 is essential for efficient proteasomal degradation and is implicated in cellular stress responses, cell cycle control, and apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PSMD5 Knockout HEK293 Cell Line | EDJ-KQ2593 | Human | 5711 | Details Get a Quote |
| PSMD5 Knockout A-549 Cell Line | EDJ-KQ24673 | Human | 5711 | Details Get a Quote |
| PSMD5 Knockout HCT 116 Cell Line | EDJ-KQ24674 | Human | 5711 | Details Get a Quote |
| PSMD5 Knockout HeLa Cell Line | EDJ-KQ24675 | Human | 5711 | Details Get a Quote |
