CCS Gene (Copper Chaperone for Superoxide Dismutase)
Essential regulator of SOD1 activation and cellular antioxidant defense
Gene Information Card
| Symbol | CCS |
|---|---|
| Full Name | Copper Chaperone for Superoxide Dismutase |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 9973 ncbi.nlm.nih.gov/gene/9973 |
| Ensembl ID | ENSG00000173992 |
| UniProt ID | O14618 |
| OMIM ID | 603864 |
| HGNC ID | 1617 |
| Aliases | SOD1 chaperone, copper chaperone (CCS) |
Description
CCS encodes a cytosolic protein that delivers copper to superoxide dismutase 1 (SOD1), enabling its enzymatic activity. It is critical for antioxidant defense and copper homeostasis. Mutations in CCS are linked to amyotrophic lateral sclerosis (ALS) and other neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic Lateral Sclerosis (ALS) | Impaired copper delivery to SOD1 leads to SOD1 misfolding and aggregation | PMID: 16943369 |
| Copper Metabolism Disorders | Dysregulation of CCS affects copper distribution and oxidative stress | PMID: 20085714 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Heart | 6.1 | Low |
| Skeletal Muscle | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HEK293 | 10.8 | Moderate expression |
| SH-SY5Y | 9.4 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.244C>T (p.Arg82Cys) | Missense | <0.01% | Reduced copper binding affinity |
| c.367G>A (p.Gly123Ser) | Missense | <0.01% | Impaired SOD1 activation |
Mutation functional classification
Loss of Function (LOF)
p.Arg82Cys reduces copper chaperone activity, leading to decreased SOD1 activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
p.Gly123Ser may interfere with wild-type CCS function.
View complete mutation data：
Gene Ontology (GO)
| • copper ion binding (GO:0005507) | • copper chaperone activity (GO:0016531) |
| • enzyme regulator activity (GO:0030234) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• Copper homeostasis (Reactome: R-HSA-936837)
• Superoxide radical degradation (Reactome: R-HSA-3299685)
Protein Summary
CCS is a 274-amino-acid protein that binds copper and transfers it to SOD1. It contains three domains: an N-terminal domain for copper binding, a central domain for SOD1 interaction, and a C-terminal domain for copper transfer. It is essential for SOD1 maturation and protection against oxidative stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HCCS Knockout HEK293 Cell Line | EDJ-KQ4855 | Human | 3052 | Details Get a Quote |
| CCS Knockout HEK293 Cell Line | EDJ-KQ6847 | Human | 9973 | Details Get a Quote |
| CCSAP Knockout HEK293 Cell Line | EDJ-KQ8182 | Human | 126731 | Details Get a Quote |
| ACCS Knockout HEK293 Cell Line | EDJ-KQ10161 | Human | 84680 | Details Get a Quote |
| CCSER2 Knockout HEK293 Cell Line | EDJ-KQ11425 | Human | 54462 | Details Get a Quote |
| ACCSL Knockout HEK293 Cell Line | EDJ-KQ11487 | Human | 390110 | Details Get a Quote |
| CCSER1 Knockout HEK293 Cell Line | EDJ-KQ11623 | Human | 401145 | Details Get a Quote |
| CCS Knockout A-549 Cell Line | EDJ-KQ30037 | Human | 9973 | Details Get a Quote |
| ACCS Knockout A-549 Cell Line | EDJ-KQ36033 | Human | 84680 | Details Get a Quote |
| CCSER1 Knockout HCT 116 Cell Line | EDJ-KQ39971 | Human | 401145 | Details Get a Quote |
| CCSER1 Knockout HeLa Cell Line | EDJ-KQ39972 | Human | 401145 | Details Get a Quote |
| HCCS Knockout A-549 Cell Line | EDJ-KQ27631 | Human | 3052 | Details Get a Quote |
| HCCS Knockout HCT 116 Cell Line | EDJ-KQ27632 | Human | 3052 | Details Get a Quote |
| HCCS Knockout HeLa Cell Line | EDJ-KQ27633 | Human | 3052 | Details Get a Quote |
| CCS Knockout HCT 116 Cell Line | EDJ-KQ31403 | Human | 9973 | Details Get a Quote |
Displaying Records 1 To 15 Of 28 Records
