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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 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 SOD3.

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

Promoters for CCS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CCS on UCSC Golden Path with GeneCards custom track

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

Proteomics data for CCS Gene at MOPED

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:0005507 copper ion binding IDA 9726962
GO:0005515 protein binding IPI 9726962
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

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

No data available for Gene Ontology (GO) - Cellular Components 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

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 --
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

(4) Drugs for CCS Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ondansetron Approved Pharma 285
Copper Pharma 158

(3) 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:

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, MOPED, and MaxQB for CCS Gene



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

Protein tissue co-expression partners for CCS Gene

- Elite partner

Primer Products

In Situ Assay 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
dog
(Canis familiaris)
Mammalia CCS 35
  • 87.35 (n)
  • 89.05 (a)
CCS 36
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccs 35
  • 86.01 (n)
  • 86.86 (a)
Ccs 16
Ccs 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CCS 35
  • 99.15 (n)
  • 100 (a)
CCS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccs 35
  • 85.89 (n)
  • 85.04 (a)
cow
(Bos Taurus)
Mammalia CCS 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCS 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCS 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccs 35
  • 60.76 (n)
  • 62.73 (a)
zebrafish
(Danio rerio)
Actinopterygii ccs 35
  • 65.87 (n)
  • 71.71 (a)
ccs 36
  • 68 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5828 35
fruit fly
(Drosophila melanogaster)
Insecta CCS 37
  • 48 (a)
CCS 35
  • 55.6 (n)
  • 52.46 (a)
CCS 36
  • 44 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007026 35
  • 53.45 (n)
  • 46.4 (a)
worm
(Caenorhabditis elegans)
Secernentea sod-1 36
  • 43 (a)
OneToMany
sod-5 36
  • 43 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F26917g 35
  • 43.94 (n)
  • 31.82 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CCS1 35
  • 41.78 (n)
  • 30.22 (a)
SOD1 36
  • 42 (a)
OneToMany
CCS1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons CCS 35
  • 47.27 (n)
  • 43.64 (a)
rice
(Oryza sativa)
Liliopsida Os04g0573200 35
  • 48.34 (n)
  • 41.56 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07851 35
  • 49.58 (n)
  • 37.82 (a)
Species with no ortholog for CCS:
  • 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 - 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
rs498045 -- 66,595,526(+) GCTGT(A/G)GTTTT intron-variant
rs503250 -- 66,604,595(+) ATTCA(C/T)CCTGT intron-variant
rs556759 -- 66,604,919(+) GACAG(C/T)CAAGG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1187n71 CNV Loss 21882294
nsv522277 CNV Loss 19592680
nsv363 CNV Insertion 18451855
nsv513321 CNV Insertion 21212237
nsv897789 CNV Gain 21882294

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

HapMap Linkage Disequilibrium report
CCS
Human Gene Mutation Database (HGMD)
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. The copper chaperone for superoxide dismutase. (PMID: 9295278) Culotta V.C. … Gitlin J.D. (J. Biol. Chem. 1997) 2 3 4 67
  2. Regulation of the copper chaperone CCS by XIAP-mediated ubiquitination. (PMID: 20154138) Brady G.F. … Duckett C.S. (Mol. Cell. Biol. 2010) 3 23
  3. Structural and biophysical properties of the pathogenic SOD1 variant H46R/H48Q. (PMID: 19227972) Winkler D.D. … Hart P.J. (Biochemistry 2009) 3 23
  4. Complete loss of post-translational modifications triggers fibrillar aggregation of SOD1 in the familial form of amyotrophic lateral sclerosis. (PMID: 18552350) Furukawa Y. … Nukina N. (J. Biol. Chem. 2008) 3 23
  5. Mechanisms of the copper-dependent turnover of the copper chaperone for superoxide dismutase. (PMID: 16531609) Caruano-Yzermans A.L. … Gitlin J.D. (J. Biol. Chem. 2006) 3 23

Products for CCS Gene

Sources for CCS Gene

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