COPS7A
COP9 Signalosome Subunit 7A
Gene Information Card
| Symbol | COPS7A |
|---|---|
| Full Name | COP9 Signalosome Subunit 7A |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 50813 ncbi.nlm.nih.gov/gene/50813 |
| Ensembl ID | ENSG00000111652 |
| UniProt ID | Q9UBW8 |
| OMIM ID | 616511 |
| HGNC ID | 24324 |
| Aliases | CSN7A, SGN7A, MOV34-7A |
Description
COPS7A encodes subunit 7A of the COP9 signalosome (CSN), a multiprotein complex involved in regulating the ubiquitin-proteasome pathway by deneddylating cullin-RING E3 ubiquitin ligases. The CSN complex plays a critical role in cellular processes including cell cycle control, DNA repair, and signal transduction. COPS7A is essential for the structural integrity and activity of the CSN complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered CSN complex activity may promote tumorigenesis via dysregulated protein degradation | PMID: 25686126 |
| Breast cancer | COPS7A overexpression correlates with poor prognosis; may enhance cell proliferation | PMID: 29367642 |
| Lung adenocarcinoma | Upregulation of COPS7A associated with increased cell migration and invasion | PMID: 31073042 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.1 | Low |
| Liver | 7.3 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | High expression |
| HeLa | 11.8 | Moderate expression |
| A549 | 9.5 | Moderate expression |
| MCF7 | 8.2 | Low expression |
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.454C>T (p.Arg152Trp) | Missense | <0.01% | Predicted damaging by in silico tools; not validated in disease |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COPS7A.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in COPS7A.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in COPS7A.
View complete mutation data：
Gene Ontology (GO)
Pathways
• COP9 Signalosome (R-HSA-8854214)
• Regulation of cullin-RING E3 ubiquitin ligases (R-HSA-8951664)
• Ubiquitin-proteasome pathway (R-HSA-983168)
Protein Summary
COPS7A is a 275-amino acid protein (31 kDa) that forms part of the COP9 signalosome complex. It contains a PCI (Proteasome, COP9, Initiation factor 3) domain that mediates interactions with other CSN subunits. The protein is essential for CSN assembly and its deneddylase activity, which removes NEDD8 from cullin proteins, thereby regulating the activity of cullin-RING E3 ubiquitin ligases. COPS7A is ubiquitously expressed with highest levels in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COPS7A Knockout HEK293 Cell Line | EDJ-KQ10816 | Human | 50813 | Details Get a Quote |
| COPS7A Knockout A-549 Cell Line | EDJ-KQ38467 | Human | 50813 | Details Get a Quote |
| COPS7A Knockout HCT 116 Cell Line | EDJ-KQ38468 | Human | 50813 | Details Get a Quote |
| COPS7A Knockout HeLa Cell Line | EDJ-KQ38469 | Human | 50813 | Details Get a Quote |
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