PSMD1: Proteasome 26S Subunit, Non-ATPase 1
A core component of the 26S proteasome, essential for ubiquitin-dependent protein degradation and implicated in cancer and neurodegenerative disorders.
Gene Information Card
| Symbol | PSMD1 |
|---|---|
| Full Name | Proteasome 26S Subunit, Non-ATPase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 5707 ncbi.nlm.nih.gov/gene/5707 |
| Ensembl ID | ENSG00000104472 |
| UniProt ID | Q99460 |
| OMIM ID | 617842 |
| HGNC ID | 9559 |
| Aliases | RPN2, S1, P112, P112-L, MGC8560 |
Description
PSMD1 encodes a non-ATPase subunit of the 19S regulatory particle of the 26S proteasome. This subunit is essential for substrate recognition, deubiquitination, and translocation into the 20S core particle. PSMD1 is involved in the ubiquitin-proteasome system (UPS), which degrades misfolded, damaged, or short-lived proteins to regulate cell cycle, apoptosis, and signal transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | PSMD1 overexpression correlates with poor prognosis and may promote tumor growth by enhancing proteasomal degradation of tumor suppressors. | PMID: 25691885 |
| Breast cancer | PSMD1 amplification and high expression are associated with aggressive subtypes and reduced survival. | PMID: 29051563 |
| Neurodegenerative disorders (e.g., Alzheimer's disease) | Impaired proteasome function due to PSMD1 mutations or reduced expression leads to accumulation of toxic proteins. | PMID: 21909107 |
| Multiple myeloma | PSMD1 is a target of proteasome inhibitors; mutations may confer resistance. | PMID: 27382138 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Brain (cerebellum) | 32.5 | High |
| Heart | 28.1 | High |
| Liver | 24.7 | Medium |
| Lung | 22.3 | Medium |
| Kidney | 20.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 35.4 | Embryonic kidney; high expression |
| HeLa | 30.1 | Cervical carcinoma; moderate-high |
| K562 | 28.7 | Leukemia; moderate |
| MCF7 | 26.3 | Breast cancer; moderate |
| HepG2 | 24.8 | Hepatocellular carcinoma; moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.01% (gnomAD) | Unknown; may affect protein stability |
| c.1490G>A (p.Arg497Gln) | Missense | <0.01% (gnomAD) | Reported in COSMIC; potential loss of function |
| c.1861_1862insA (p.Thr621Asnfs*2) | Frameshift | Rare | Predicted loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein likely impair proteasome assembly and activity, leading to accumulation of ubiquitinated proteins.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported; overexpression in cancer may act as a functional gain.
Dominant Negative (DN)
Missense mutations in critical domains (e.g., PCI domain) may disrupt proteasome assembly and exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa03050 - Proteasome
• hsa04120 - Ubiquitin mediated proteolysis
• hsa05200 - Pathways in cancer
• hsa05016 - Huntington disease
Protein Summary
PSMD1 (also known as RPN2 or S1) is a 110 kDa protein that forms part of the 19S regulatory particle base subcomplex. It contains a PCI (Proteasome/COP9/Initiation factor) domain that mediates interactions with other subunits. PSMD1 is essential for proteasome assembly and function, including ATP-dependent substrate unfolding and translocation. Its expression is ubiquitous, with highest levels in testis and brain. Post-translational modifications include phosphorylation and ubiquitination, which regulate its stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PSMD10 Knockout HEK293 Cell Line | EDJ-KQ3091 | Human | 5716 | Details Get a Quote |
| PSMD10 Knockout HCT 116 Cell Line | EDJ-KQ23024 | Human | 5716 | Details Get a Quote |
| PSMD10 Knockout A-549 Cell Line | EDJ-KQ24400 | Human | 5716 | Details Get a Quote |
| PSMD10 Knockout HeLa Cell Line | EDJ-KQ24402 | Human | 5716 | Details Get a Quote |
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