Free for academic non-profit institutions. Other users need a Commercial license

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 and Amyotrophic lateral sclerosis (ALS). 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

No data available for 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
GH11F066717 1.1 Ensembl ENCODE 11.6 +126.9 126907 3.9 HDGF PKNOX1 ZFP64 ARID4B SIN3A GLIS2 ELK1 ZNF207 FOS ZNF263 RBM14 ENSG00000258297 LOC105369353 LOC105369352 ENSG00000255038 ACTN3 RCE1 CCS RAD9A RNASEH2C
GH11F067116 0.2 ENCODE 11.5 +526.9 526883 5.7 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF207 SP3 REST TBX21 ENSG00000258297 LOC105369352 RBM14 LOC105369353 ENSG00000245156 RCE1 RAD9A ENSG00000255320 SSH3 FAM86C2P
GH11F067557 1.3 FANTOM5 Ensembl ENCODE 11.5 +966.1 966080 2.7 PKNOX1 ZFP64 ZNF140 EBF1 RELA ZNF121 ZNF316 GATA3 POLR2A NFE2 PTPRCAP RBM14 ENSG00000258297 FAM86C2P RCE1 CCS RAD9A ALDH3B2 NDUFV1 NUDT8
GH11F066949 1.5 FANTOM5 Ensembl ENCODE 11.5 +358.9 358867 4.3 HDGF PKNOX1 ARID4B SIN3A YY1 ZNF207 FOS DEK ZNF263 SP3 ACTN3 RBM14 ENSG00000258297 LOC105369353 LOC105369352 ENSG00000255038 FAM86C2P RCE1 SYT12 CCS
GH11F066006 0.6 Ensembl ENCODE 11.5 -585.6 -585605 1.5 CTCF ZNF140 ZIC2 RAD21 ZNF316 POLR2A ADNP NFE2 ZNF652 HLF RBM14 ENSG00000258297 LOC105369353 LOC105369352 ENSG00000255038 BANF1 SSSCA1-AS1 ZFPL1 RCE1 CCS
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00000110025 279 1401 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

Genomic Location for CCS Gene

Chromosome:
11
Start:
66,592,821 bp from pter
End:
66,606,019 bp from pter
Size:
13,199 bases
Orientation:
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:
    O14618-CCS_HUMAN
    Recommended name:
    Copper chaperone for superoxide dismutase
    Protein Accession:
    O14618
    Secondary Accessions:
    • Q2M366
    • Q8NEV0

    Protein attributes for CCS Gene

    Size:
    274 amino acids
    Molecular mass:
    29041 Da
    Cofactor:
    Name=Cu(2+); Xref=ChEBI:CHEBI:29036;
    Cofactor:
    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 Lys 76, Lys 189, Lys 216, and Lys 241
  • Modification sites at PhosphoSitePlus

Other Protein References for CCS Gene

Antibody Products

No data available for DME Specific Peptides for CCS Gene

Domains & Families for CCS Gene

Suggested Antigen Peptide Sequences for CCS Gene

Graphical View of Domain Structure for InterPro Entry

O14618

UniProtKB/Swiss-Prot:

CCS_HUMAN :
  • Contains 1 HMA domain.
  • In the C-terminal section; belongs to the Cu-Zn superoxide dismutase family.
Domain:
  • Contains 1 HMA domain.
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

No data available for Gene Families for CCS Gene

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).

Gene Ontology (GO) - Molecular Function for CCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004784 superoxide dismutase activity IEA,IBA --
GO:0005507 copper ion binding IEA,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:

Animal Model Products

miRNA for CCS Gene

miRTarBase miRNAs that target CCS

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCS Gene COMPARTMENTS Subcellular localization image for CCS gene
Compartment Confidence
cytosol 5
nucleus 5
extracellular 2
chloroplast 1
cytoskeleton 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 9726962
GO:0005737 cytoplasm IEA,IDA 9726962
GO:0005829 cytosol TAS --
GO:0005913 cell-cell adherens junction IDA 25468996
genes like me logo Genes that share ontologies with CCS: view

Pathways & Interactions for CCS Gene

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

Pathways by source for CCS Gene

1 BioSystems pathway for CCS Gene
1 KEGG pathway for CCS Gene

Gene Ontology (GO) - Biological Process for CCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000302 response to reactive oxygen species TAS --
GO:0006801 superoxide metabolic process IEA,TAS 9295278
GO:0015680 intracellular copper ion transport TAS 9726962
GO:0019430 removal of superoxide radicals IEA,IBA --
GO:0030001 metal ion transport IEA --
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: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma 172
Ondansetron Approved Pharma 309

(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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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: - - -
SP4:
SP5: - - -
SP6:
SP7: -
SP8: -

Relevant External Links for CCS Gene

GeneLoc Exon Structure for
CCS
ECgene alternative splicing isoforms for
CCS

Expression for CCS Gene

mRNA expression in normal human tissues 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:

CCS

SOURCE GeneReport for Unigene cluster for CCS Gene:

Hs.502917

mRNA Expression by UniProt/SwissProt for CCS Gene:

O14618-CCS_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with CCS: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia CCS 34 35
  • 99.15 (n)
cow
(Bos Taurus)
Mammalia CCS 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCS 34 35
  • 87.35 (n)
mouse
(Mus musculus)
Mammalia Ccs 34 16 35
  • 86.01 (n)
rat
(Rattus norvegicus)
Mammalia Ccs 34
  • 85.89 (n)
oppossum
(Monodelphis domestica)
Mammalia CCS 35
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCS 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccs 34
  • 60.76 (n)
zebrafish
(Danio rerio)
Actinopterygii ccs 34 35
  • 65.87 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5828 34
fruit fly
(Drosophila melanogaster)
Insecta CCS 36 34 35
  • 55.6 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007026 34
  • 53.45 (n)
worm
(Caenorhabditis elegans)
Secernentea sod-1 35
  • 43 (a)
OneToMany
sod-5 35
  • 43 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F26917g 34
  • 43.94 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SOD1 35
  • 42 (a)
OneToMany
CCS1 34 37
  • 41.78 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons CCS 34
  • 47.27 (n)
rice
(Oryza sativa)
Liliopsida Os04g0573200 34
  • 48.34 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07851 34
  • 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

ENSEMBL:
Gene Tree for CCS (if available)
TreeFam:
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
rs10061 -- 66,605,730(+) GCTCC(C/G)CTGGC nc-transcript-variant, reference, missense
rs1110707 -- 66,592,550(+) GCTGG(C/T)GGCCA upstream-variant-2KB, reference, missense
rs1110708 -- 66,593,113(+) CCACC(A/C)GGTGG upstream-variant-2KB
rs111277184 -- 66,597,656(+) CTGAG(A/G)CAGGA intron-variant

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

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

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)
CCS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCS

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

Disorders for CCS Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCS Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
entropion
amyotrophic lateral sclerosis 1
  • amyotrophic 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)
CCS
Human Genome Epidemiology (HuGE) Navigator
CCS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCS
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 G.F. … Duckett C.S. (Mol. Cell. Biol. 2010) 3 4 22 64
  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 J.P. … Blackburn N.J. (Biochemistry 2005) 3 4 22 64
  3. The copper chaperone CCS directly interacts with copper/zinc superoxide dismutase. (PMID: 9726962) Casareno R.L.B. … Gitlin J.D. (J. Biol. Chem. 1998) 3 4 22 64
  4. The copper chaperone for superoxide dismutase. (PMID: 9295278) Culotta V.C. … Gitlin J.D. (J. Biol. Chem. 1997) 2 3 4 64
  5. Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase. (PMID: 22508683) Huppke P. … Gartner J. (Hum. Mutat. 2012) 3 4 64

Products for CCS Gene

Sources for CCS Gene

Content
Loading form....