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Aliases for CCS Gene

Aliases for CCS Gene

  • Copper Chaperone For Superoxide Dismutase 2 3 5
  • Superoxide Dismutase Copper Chaperone 4

External Ids for CCS Gene

Previous GeneCards Identifiers for CCS Gene

  • GC11P068894
  • GC11P068043
  • GC11P066610
  • GC11P066136
  • GC11P066117
  • GC11P066360
  • GC11P062688

Summaries for CCS Gene

Entrez Gene Summary for CCS Gene

  • 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]

GeneCards Summary for CCS Gene

CCS (Copper Chaperone For Superoxide Dismutase) is a Protein Coding gene. Diseases associated with CCS include Entropion and Amyotrophic Lateral Sclerosis 1. Among its related pathways are Cellular Senescence (REACTOME) and Copper homeostasis. GO annotations related to this gene include copper ion binding and copper ion transmembrane transporter activity. An important paralog of this gene is SOD1.

UniProtKB/Swiss-Prot for CCS Gene

  • Delivers copper to copper zinc superoxide dismutase (SOD1).

Gene Wiki entry for CCS Gene

Additional gene information for CCS Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCS Gene

Genomics for CCS Gene

Regulatory Elements for CCS Gene

Enhancers for CCS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H065774 1.6 Ensembl ENCODE dbSUPER 19.6 -814.4 -814414 8.8 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 CBX5 ZNF207 ZNF143 FOS RBM14 ENSG00000258297 LOC105369352 RBM4 SF1 SF3B2 ENSG00000254461 PCNX3 ZFPL1 RNASEH2C
GH11H065886 1.9 FANTOM5 ENCODE dbSUPER 10 -697.4 -697363 18.4 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A MEF2D SNX32 RBM14 ENSG00000258297 ENSG00000254461 MUS81 SART1 CTSW KAT5 SF3B2 EIF1AD
GH11H066311 1.8 FANTOM5 ENCODE dbSUPER 9.8 -277.5 -277488 8.3 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A YBX1 DMAP1 ZNF2 RIN1 ENSG00000255320 EIF1AD PCNX3 RBM14 KDM2A RBM4 ENSG00000258297 EHBP1L1 SART1
GH11H066717 1.3 Ensembl ENCODE 11.6 +126.9 126907 3.9 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A ZBTB7B GLIS2 ELK1 ZNF207 ENSG00000258297 RBM14 RBM4 ENSG00000245156 ENSG00000254461 LOC105369352 ENSG00000255038 ACTN3 EIF1AD ENSG00000255320
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCS on UCSC Golden Path with GeneCards custom track

Promoters for CCS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040986 379 801 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 MXD4

Genomic Locations for CCS Gene

Genomic Locations for CCS Gene
13,199 bases
Plus strand

Genomic View for CCS Gene

Genes around CCS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCS Gene

Proteins for CCS Gene

  • Protein details for CCS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Copper chaperone for superoxide dismutase
    Protein Accession:
    Secondary Accessions:
    • Q2M366
    • Q8NEV0

    Protein attributes for CCS Gene

    274 amino acids
    Molecular mass:
    29041 Da
    Name=Cu(2+); Xref=ChEBI:CHEBI:29036;
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer, and heterodimer with SOD1. Interacts with COMMD1. Interacts with XIAP/BIRC4.

    Three dimensional structures from OCA and Proteopedia for CCS Gene

neXtProt entry for CCS Gene

Post-translational modifications for CCS Gene

  • Ubiquitinion by XIAP/BIRC4 leads to enhancement of its chaperone activity toward its physiologic target, SOD1, rather than proteasomal degradation. XIAP/BIRC4 preferentially ubiquitinates at Lys-241.
  • Ubiquitination at Lys76, Lys189, Lys216, and Lys241
  • Modification sites at PhosphoSitePlus

Other Protein References for CCS Gene

No data available for DME Specific Peptides for CCS Gene

Domains & Families for CCS Gene

Gene Families for CCS Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CCS Gene

Graphical View of Domain Structure for InterPro Entry



  • In the C-terminal section; belongs to the Cu-Zn superoxide dismutase family.
  • In the C-terminal section; belongs to the Cu-Zn superoxide dismutase family.
genes like me logo Genes that share domains with CCS: view

Function for CCS Gene

Molecular function for CCS Gene

GENATLAS Biochemistry:
copper chaperone for superoxide dismutase,S cerevisiae LYS7 ortholog
UniProtKB/Swiss-Prot Function:
Delivers copper to copper zinc superoxide dismutase (SOD1).

Phenotypes From GWAS Catalog for CCS Gene

Gene Ontology (GO) - Molecular Function for CCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004784 NOT superoxide dismutase activity IBA --
GO:0005507 copper ion binding IDA 9726962
GO:0005515 protein binding IPI 9726962
GO:0008270 zinc ion binding IBA --
GO:0015035 protein disulfide oxidoreductase activity TAS --
genes like me logo Genes that share ontologies with CCS: view
genes like me logo Genes that share phenotypes with CCS: view

Animal Models for CCS Gene

MGI Knock Outs for CCS:

miRNA for CCS Gene

miRTarBase miRNAs that target CCS

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CCS Gene

Localization for CCS Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCS Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCS gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 NOT extracellular space IBA --
GO:0005634 nucleus IDA 9726962
GO:0005737 cytoplasm IEA,IDA 9726962
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CCS: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CCS Gene

Pathways & Interactions for CCS Gene

genes like me logo Genes that share pathways with CCS: view

Pathways by source for CCS Gene

Gene Ontology (GO) - Biological Process for CCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006801 superoxide metabolic process IEA --
GO:0015680 intracellular copper ion transport TAS 9726962
GO:0019430 removal of superoxide radicals IEA --
GO:0030001 metal ion transport IEA --
GO:0034599 cellular response to oxidative stress TAS --
genes like me logo Genes that share ontologies with CCS: view

No data available for SIGNOR curated interactions for CCS Gene

Drugs & Compounds for CCS Gene

(5) Drugs for CCS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma Carrier, binder 188
Zinc Approved Pharma Target 2359
Ondansetron Approved Pharma 335

(2) Additional Compounds for CCS Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CCS: view

Transcripts for CCS Gene

Unigene Clusters for CCS Gene

Copper chaperone for superoxide dismutase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCS Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b
SP1: - - - -
SP2: - - -
SP3: - - -
SP5: - - -
SP7: -
SP8: -

Relevant External Links for CCS Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CCS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCS Gene

Protein differential expression in normal tissues from HIPED for CCS Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CCS Gene

Protein tissue co-expression partners for CCS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCS Gene:


SOURCE GeneReport for Unigene cluster for CCS Gene:


mRNA Expression by UniProt/SwissProt for CCS Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for CCS Gene

  • Nervous system(4.6)
  • Liver(4.4)
genes like me logo Genes that share expression patterns with CCS: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCS Gene

Orthologs for CCS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CCS Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CCS 33 34
  • 99.15 (n)
(Bos Taurus)
Mammalia CCS 34
  • 91 (a)
(Canis familiaris)
Mammalia CCS 33 34
  • 87.35 (n)
(Mus musculus)
Mammalia Ccs 33 16 34
  • 86.01 (n)
(Rattus norvegicus)
Mammalia Ccs 33
  • 85.89 (n)
(Monodelphis domestica)
Mammalia CCS 34
  • 77 (a)
(Anolis carolinensis)
Reptilia CCS 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ccs 33
  • 60.76 (n)
(Danio rerio)
Actinopterygii ccs 33 34
  • 65.87 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5828 33
fruit fly
(Drosophila melanogaster)
Insecta CCS 35 33 34
  • 55.6 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007026 33
  • 53.45 (n)
(Caenorhabditis elegans)
Secernentea sod-1 34
  • 43 (a)
sod-5 34
  • 43 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F26917g 33
  • 43.94 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SOD1 34
  • 42 (a)
CCS1 33 36
  • 41.78 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons CCS 33
  • 47.27 (n)
(Oryza sativa)
Liliopsida Os04g0573200 33
  • 48.34 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07851 33
  • 49.58 (n)
Species where no ortholog for CCS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CCS Gene

Gene Tree for CCS (if available)
Gene Tree for CCS (if available)

Paralogs for CCS Gene

Paralogs for CCS Gene

(1) SIMAP similar genes for CCS Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CCS: view

Variants for CCS Gene

Sequence variations from dbSNP and Humsavar for CCS Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs142340643 Uncertain significance 66,600,547(+) CTGAC(C/T)GGGTA nc-transcript-variant, reference, missense
rs1000310726 -- 66,596,825(+) CAAGG(A/G)GTGTG intron-variant
rs1000727023 -- 66,594,179(+) CAGTT(A/G)AATCC intron-variant, upstream-variant-2KB
rs1001785724 -- 66,601,782(+) TTCCT(C/T)AGGCT intron-variant
rs1001857744 -- 66,603,630(+) TCACA(A/G)GGTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCS Gene

Variant ID Type Subtype PubMed ID
nsv522277 CNV loss 19592680
nsv513321 CNV insertion 21212237
nsv363 CNV insertion 18451855
esv3350972 CNV duplication 20981092

Variation tolerance for CCS Gene

Residual Variation Intolerance Score: 44.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.09; 38.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCS Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCS Gene

Disorders for CCS Gene

MalaCards: The human disease database

(3) MalaCards diseases for CCS Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
lateral sclerosis
  • adult-onset primary lateral sclerosis
- elite association - COSMIC cancer census association via MalaCards
Search CCS in MalaCards View complete list of genes associated with diseases

Relevant External Links for CCS

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CCS: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCS Gene

Publications for CCS Gene

  1. Regulation of the copper chaperone CCS by XIAP-mediated ubiquitination. (PMID: 20154138) Brady GF … Duckett CS (Molecular and cellular biology 2010) 3 4 22 60
  2. Cysteine-to-serine mutants of the human copper chaperone for superoxide dismutase reveal a copper cluster at a domain III dimer interface. (PMID: 15736924) Stasser JP … Blackburn NJ (Biochemistry 2005) 3 4 22 60
  3. The copper chaperone CCS directly interacts with copper/zinc superoxide dismutase. (PMID: 9726962) Casareno RL … Gitlin JD (The Journal of biological chemistry 1998) 3 4 22 60
  4. The copper chaperone for superoxide dismutase. (PMID: 9295278) Culotta VC … Gitlin JD (The Journal of biological chemistry 1997) 2 3 4 60
  5. Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase. (PMID: 22508683) Huppke P … Gärtner J (Human mutation 2012) 3 4 60

Products for CCS Gene

Sources for CCS Gene

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