PSMD9: Proteasome 26S Subunit, Non-ATPase 9
A key regulator of proteasomal degradation and transcriptional control
Gene Information Card
| Symbol | PSMD9 |
|---|---|
| Full Name | Proteasome 26S Subunit, Non-ATPase 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 5715 ncbi.nlm.nih.gov/gene/5715 |
| Ensembl ID | ENSG00000110801 |
| UniProt ID | O00233 |
| OMIM ID | 603175 |
| HGNC ID | 9565 |
| Aliases | BRIDGE, Rpn12, p27 |
Description
PSMD9 (Proteasome 26S Subunit, Non-ATPase 9) encodes a component of the 19S regulatory particle of the 26S proteasome. This subunit is involved in substrate recognition and deubiquitination. PSMD9 also functions as a transcriptional coactivator, interacting with nuclear receptors and other transcription factors. It is widely expressed and plays roles in cell cycle regulation, apoptosis, and protein quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegenerative disorders (e.g., Alzheimer's disease) | Impaired proteasomal degradation leads to accumulation of misfolded proteins; PSMD9 variants may affect proteasome assembly or activity. | PMID: 21549339 |
| Cancer (e.g., breast, prostate) | PSMD9 overexpression or mutation alters proteasome function, affecting turnover of oncoproteins and tumor suppressors. | PMID: 23382219 |
| Diabetes mellitus type 2 | PSMD9 polymorphisms associated with insulin resistance and beta-cell dysfunction via altered proteasomal degradation of signaling molecules. | PMID: 17666416 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Heart | 10.5 | Medium |
| Kidney | 11.3 | Medium |
| Testis | 18.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | Embryonic kidney cells |
| HeLa | 13.2 | Cervical carcinoma cells |
| K562 | 16.0 | Leukemia cells |
| HepG2 | 12.1 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | 0.001% (gnomAD) | Altered proteasome assembly; associated with diabetes risk |
| c.511C>T (p.Arg171Trp) | Missense | 0.0005% | Reduced binding to transcription factors; potential loss of function |
| c.763_765del (p.Lys255del) | In-frame deletion | Rare | Impaired subunit interaction; may affect proteasome activity |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt proteasome assembly or reduce protein stability, leading to impaired degradation of ubiquitinated substrates.
Gain of Function (GOF)
Not well characterized; some variants may enhance transcriptional coactivation activity.
Dominant Negative (DN)
Mutations that produce a defective subunit capable of incorporating into the proteasome and impairing overall complex function.
View complete mutation data：
Gene Ontology (GO)
| • proteasome complex (GO:0000502) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • transcription coactivator activity (GO:0003713) | • nucleus (GO:0005634) |
| • cytosol (GO:0005829) |
Pathways
• Proteasome degradation (KEGG hsa03050)
• Ubiquitin mediated proteolysis (KEGG hsa04120)
• p53 signaling pathway (KEGG hsa04115)
Protein Summary
PSMD9 (Rpn12) is a 27 kDa protein that forms part of the lid subcomplex of the 19S regulatory particle. It contains a PCI (Proteasome/COP9/Initiation factor) domain essential for assembly and interaction with other subunits. PSMD9 also shuttles between cytoplasm and nucleus, where it can act as a transcriptional coactivator for nuclear receptors such as androgen receptor and thyroid hormone receptor. Its dual role links proteasomal degradation to gene regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PSMD9 Knockout HEK293 Cell Line | EDJ-KQ5578 | Human | 5715 | Details Get a Quote |
| PSMD9 Knockout A-549 Cell Line | EDJ-KQ28846 | Human | 5715 | Details Get a Quote |
| PSMD9 Knockout HCT 116 Cell Line | EDJ-KQ28847 | Human | 5715 | Details Get a Quote |
| PSMD9 Knockout HeLa Cell Line | EDJ-KQ28848 | Human | 5715 | Details Get a Quote |
