COPS6: COP9 Signalosome Subunit 6
A core component of the COP9 signalosome complex involved in protein degradation and cell cycle regulation
Gene Information Card
| Symbol | COPS6 |
|---|---|
| Full Name | COP9 Signalosome Subunit 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 10980 ncbi.nlm.nih.gov/gene/10980 |
| Ensembl ID | ENSG00000106348 |
| UniProt ID | Q7L5N1 |
| OMIM ID | 604854 |
| HGNC ID | 24024 |
| Aliases | CSN6, MOV34-6, SGN6, hCOP9 |
Description
COPS6 encodes subunit 6 of the COP9 signalosome complex, a conserved multiprotein complex that regulates the ubiquitin-proteasome pathway by deneddylating cullin-RING E3 ubiquitin ligases. This subunit is essential for complex integrity and function, influencing cell cycle progression, DNA damage response, and signal transduction. COPS6 is implicated in various cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | COPS6 overexpression promotes cell proliferation and inhibits apoptosis via AKT signaling | PMID: 25944712 |
| Breast cancer | COPS6 upregulation correlates with poor prognosis and enhances tumor growth through cyclin D1 stabilization | PMID: 27149989 |
| Lung cancer | COPS6 knockdown reduces cell migration and invasion via EMT suppression | PMID: 29367642 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.2 | High |
| Lymph node | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Liver | 6.1 | Low |
| Heart | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| A549 | 12.8 | Lung cancer cell line |
| MCF7 | 10.1 | Breast cancer cell line |
| HEK293 | 9.5 | Embryonic kidney 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% (gnomAD) | Unknown functional impact |
| c.454C>T (p.Arg152Trp) | Missense | 0.005% (gnomAD) | Predicted damaging (SIFT) |
| c.625_627del (p.Lys209del) | In-frame deletion | <0.001% (COSMIC) | Reported in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COPS6.
Gain of Function (GOF)
Overexpression in multiple cancers suggests potential gain-of-function role.
Dominant Negative (DN)
Not described for COPS6.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000338 - protein deneddylation | • GO:0006511 - ubiquitin-dependent protein catabolic process |
| • GO:0005634 - nucleus | • GO:0008180 - COP9 signalosome |
| • GO:0043161 - proteasome-mediated ubiquitin-dependent protein catabolic process |
Pathways
• COP9 Signalosome (KEGG: hsa03050)
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
COPS6 is a 327-amino acid protein (37 kDa) that forms part of the COP9 signalosome complex. It contains a PCI (Proteasome, COP9, Initiation factor 3) domain essential for complex assembly. The protein interacts with cullins and regulates their neddylation status, thereby controlling the activity of cullin-RING E3 ubiquitin ligases. COPS6 is widely expressed and its dysregulation contributes to oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COPS6 Knockout HAP1 Cell Line | EDC08259 | Human | 10980 | Details Get a Quote |
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