Gene Gene information from NCBI Gene database.
Entrez ID 9973
Gene name Copper chaperone for superoxide dismutase
Gene symbol CCS
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11q13.2
Summary Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct insertion of the Cu cofactor. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
454
miRTarBase ID miRNA Experiments Reference
MIRT042263 hsa-miR-484 CLASH 23622248
MIRT683472 hsa-miR-4438 HITS-CLIP 21572407
MIRT706603 hsa-miR-3622a-5p HITS-CLIP 21572407
MIRT706602 hsa-miR-4269 HITS-CLIP 21572407
MIRT706601 hsa-miR-6715b-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005507 Function Copper ion binding IBA
GO:0005507 Function Copper ion binding IDA 9726962
GO:0005507 Function Copper ion binding IEA
GO:0005515 Function Protein binding IPI 9726962, 12968035, 20154138, 22508683, 24981860, 28514442, 30260988, 31292775, 33961781
GO:0005634 Component Nucleus IDA 9726962
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603864 1613 ENSG00000173992
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14618
Protein name Copper chaperone for superoxide dismutase (Superoxide dismutase copper chaperone)
Protein function Delivers copper to copper zinc superoxide dismutase (SOD1).
PDB 1DO5 , 2CRL , 2RSQ , 6FN8 , 6FOL , 6FON , 6FP6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00403 HMA 15 72 Heavy-metal-associated domain Domain
PF00080 Sod_Cu 93 230 Copper/zinc superoxide dismutase (SODC) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 274
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
  Detoxification of Reactive Oxygen Species
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CCS-related disorder Benign; Likely benign rs1127145, rs61731811 RCV003974101
RCV003931933
Neurodegeneration Uncertain significance rs142340643 RCV000030700
Sarcoma Uncertain significance rs373391814 RCV005929887
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 31118040, 31164693, 32121118, 9295278
Amyotrophic lateral sclerosis 1 Associate 21354101, 32121118
Arthritis Rheumatoid Associate 25147922
Carcinoma Hepatocellular Associate 37924725
Cerebral Small Vessel Diseases Associate 32047268
Colorectal Neoplasms Associate 38078879
Diabetic Nephropathies Associate 34545296
Gastrointestinal Stromal Tumors Associate 36204881
Intellectual Disability Associate 34452636
Leukemia Myeloid Acute Associate 30337300