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CCS Gene

protein-coding   GIFtS: 66
GCID: GC11P066360

Copper Chaperone For Superoxide Dismutase

  See CCS-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Copper Chaperone For Superoxide Dismutase1 2
Superoxide Dismutase Copper Chaperone2 3

External Ids:    HGNC: 16131   Entrez Gene: 99732   Ensembl: ENSG000001739927   OMIM: 6038645   UniProtKB: O146183   

Export aliases for CCS gene to outside databases

Previous GC identifers: GC11P068894 GC11P068043 GC11P066610 GC11P066136 GC11P066117 GC11P062688


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 amyotrophic lateral sclerosis. GO annotations related to this gene include copper ion transmembrane transporter activity and copper ion binding. An important paralog of this gene is SOD1.

UniProtKB/Swiss-Prot: CCS_HUMAN, O14618
Function: Delivers copper to copper zinc superoxide dismutase (SOD1)

Gene Wiki entry for CCS Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCS gene promoter:
         c-Fos   C/EBPbeta   GATA-3   GATA-2   GATA-1   CREB   PPAR-gamma1   deltaCREB   c-Myb   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCS promoter sequence
   Search Chromatin IP Primers for CCS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.2   HGNC cytogenetic band: 11q13.2

CCS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCS gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P066360:  view genomic region     (about GC identifiers)

Start:
66,360,292 bp from pter      End:
66,373,490 bp from pter
Size:
13,199 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CCS_HUMAN, O14618 (See protein sequence)
Recommended Name: Copper chaperone for superoxide dismutase  
Size: 274 amino acids; 29041 Da
Cofactor: Binds 2 copper ions per subunit
Cofactor: Binds 1 zinc ion per subunit
Subunit: Homodimer, and heterodimer with SOD1. Interacts with COMMD1. Interacts with XIAP/BIRC4
3 PDB 3D structures from and Proteopedia for CCS:
1DO5 (3D)        2CRL (3D)        2RSQ (3D)    
Secondary accessions: Q2M366

Explore the universe of human proteins at neXtProt for CCS: NX_O14618

Explore proteomics data for CCS at MOPED

Post-translational modifications: 

  • 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-2411
  • Ubiquitination2 at Lys76, Lys189, Lys216, Lys241
  • Modification sites at PhosphoSitePlus

  • See CCS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005116.1  
    ENSEMBL proteins: 
     ENSP00000436318   ENSP00000433609   ENSP00000307870   ENSP00000436379  
    Reactome Protein details: O14618

    CCS Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for CCS
    OriGene Custom MassSpec
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    GenScript Purified and Recombinant Proteins for CCS
    Novus Biologicals CCS Proteins
    Novus Biologicals CCS Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for CCS
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CCS 

    CCS Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for CCS
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for CCS
    LSBio Antibodies in human, mouse, rat for CCS

    CCS Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CCS
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for CCS 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR006121 HeavyMe-assoc_HMA
     IPR001424 SOD_Cu_Zn_dom
     IPR024134 SOD_Cu/Zn_/chaperone
     IPR018152 SOD_Cu/Zn_BS

    Graphical View of Domain Structure for InterPro Entry O14618

    ProtoNet protein and cluster: O14618

    2 Blocks protein domains:
    IPB001424 Copper/Zinc superoxide dismutase
    IPB006121 Heavy metal transport/detoxification protein


    UniProtKB/Swiss-Prot: CCS_HUMAN, O14618
    Similarity: In the C-terminal section; belongs to the Cu-Zn superoxide dismutase family
    Similarity: Contains 1 HMA domain


    Find genes that share domains with CCS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CCS_HUMAN, O14618
    Function: Delivers copper to copper zinc superoxide dismutase (SOD1)

         Genatlas biochemistry entry for CCS:
    copper chaperone for superoxide dismutase,S cerevisiae LYS7 ortholog

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004784superoxide dismutase activity IBA--
    GO:0005375copper ion transmembrane transporter activity TAS9726962
    GO:0005507copper ion binding TAS9726962
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IBA--
         
    Find genes that share ontologies with CCS           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CCS:
     Increased cilium length after  

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ccs):
     cellular  endocrine/exocrine gland  homeostasis/metabolism  reproductive system 

    Find genes that share phenotypes with CCS           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ccstm1Pcw for CCS

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCS
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CCS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CCS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CCS

    miRNA
    Products:
        
    miRTarBase miRNAs that target CCS:
    hsa-mir-484 (MIRT042263)

    Block miRNA regulation of human, mouse, rat CCS using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CCS
    SwitchGear 3'UTR luciferase reporter plasmidCCS 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CCS
    Predesigned siRNA for gene silencing in human, mouse, rat CCS

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for CCS

    Clone
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    OriGene clones in human, mouse for CCS (see all 6)
    OriGene ORF clones in mouse, rat for CCS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CCS (NM_005333)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCS

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CCS_HUMAN, O14618: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    mitochondrion3
    extracellular2
    chloroplast1
    cytoskeleton1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA9726962
    GO:0005737cytoplasm IDA9726962
    GO:0005743mitochondrial inner membrane IBA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with CCS           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CCS About    
    See pathways by source

    SuperPathContained pathways About
    1Amyotrophic lateral sclerosis (ALS)
    Amyotrophic lateral sclerosis (ALS)0.63
    Amyotrophic lateral sclerosis (ALS)0.63
    2Cellular Senescence
    Cellular responses to stress0.81
    3Detoxification of Reactive Oxygen Species
    Detoxification of Reactive Oxygen Species


    Find genes that share SuperPaths with CCS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CCS
        Amyotrophic lateral sclerosis (ALS)

    1 Reactome Pathway for CCS
        Detoxification of Reactive Oxygen Species


    1 Kegg Pathway  (Kegg details for CCS):
        Amyotrophic lateral sclerosis (ALS)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CCS: 
              Nephrotoxicity in human mouse rat
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CCS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CCS (O146183 ENSP000003078704) via UniProtKB, MINT, STRING, and/or I2D (see all 103)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APBA1Q024103, ENSP000002653814I2D: score=3 STRING: ENSP00000265381
    SOD1P004413, ENSP000002701424I2D: score=4 STRING: ENSP00000270142
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    XIAPP981703, ENSP000003478584I2D: score=1 STRING: ENSP00000347858
    YWHAGP619813, ENSP000003063304I2D: score=1 STRING: ENSP00000306330
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006801superoxide metabolic process TAS9295278
    GO:0015680intracellular copper ion transport IBA--
    GO:0019430removal of superoxide radicals IBA--
    GO:0030001metal ion transport ----
    GO:0035434copper ion transmembrane transport TAS9726962

    Find genes that share ontologies with CCS           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CCS

    2 HMDB Compounds for CCS    About this table
    CompoundSynonyms CAS #PubMed Ids
    CopperCu (see all 2)7440-50-8--
    OndansetronOndansetron (see all 4)99614-02-5--

    6 Novoseek inferred chemical compound relationships for CCS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc superoxide 77.4 3 9726962 (1), 9886096 (1), 16531609 (1)
    copper 77 103 12832419 (7), 16531609 (7), 12815046 (4), 11473116 (3) (see all 24)
    superoxide 65.8 20 20154138 (2), 15064408 (2), 15993338 (1), 17504097 (1) (see all 13)
    zinc 48.7 2 12832419 (1), 19227972 (1)
    cysteine 36.6 4 12832419 (1), 16531609 (1), 18703498 (1)
    oxygen 3.35 7 15064408 (3), 18703498 (2)



    Find genes that share compounds with CCS           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CCS gene: 
    NM_005125.1  

    Unigene Cluster for CCS:

    Copper chaperone for superoxide dismutase
    Hs.502917  [show with all ESTs]
    Unigene Representative Sequence: BM923192
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000533244(uc001oir.3) ENST00000530384 ENST00000526066 ENST00000530961
    ENST00000526058 ENST00000531990 ENST00000310190 ENST00000534763 ENST00000525435

    miRNA
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    Block miRNA regulation of human, mouse, rat CCS using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidCCS 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCS
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CCS (NM_005333)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCS
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CCS
      QuantiFast Probe-based Assays in human, mouse, rat CCS

    Additional mRNA sequence: 

    AF002210.1 AY113179.1 BC105016.1 BC112055.1 CR541928.1 

    13 DOTS entries:

    DT.451899  DT.95218453  DT.95297325  DT.403494  DT.95297322  DT.95297334  DT.100789265  DT.120718131 
    DT.120718145  DT.120718151  DT.97845684  DT.100789268  DT.97778415 

    Selected AceView cDNA sequences (see all 217):

    CF131037 AA326686 BQ082513 BQ082527 CB105001 BQ082347 CR592698 BM543741 
    AA602749 NM_005125 BF437830 BX494932 BQ939809 BX089413 BQ708701 BQ447121 
    BG575138 CB105004 AI392849 BM725666 BQ651373 AA736394 BM675344 AA554225 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CCS (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b
    SP1:                                            -     -     -           -                                 
    SP2:                                            -     -     -                                             
    SP3:                                            -     -     -                                             
    SP4:                                                                                                      
    SP5:                                            -     -     -                                             


    ECgene alternative splicing isoforms for CCS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CCS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGGCCCCCA
    CCS Expression
    About this image

    CCS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.502917

    UniProtKB/Swiss-Prot: CCS_HUMAN, O14618
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CCS: 
              Nephrotoxicity in human mouse rat
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CCS
    OriGene qSTAR qPCR primer pairs in human, mouse for CCS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCS
    QuantiTect SYBR Green Assays in human, mouse, rat CCS
    QuantiFast Probe-based Assays in human, mouse, rat CCS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CCS gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccs1 , 5 copper chaperone for superoxide dismutase1, 5 86.01(n)1
    86.86(a)1
      19 (4.11 cM)5
    124601  NM_016892.31  NP_058588.11 
     48253665 
    lizard
    (Anolis carolinensis)
    Reptilia CCS6
    copper chaperone for superoxide dismutase
    66(a)
    1 ↔ 1
    GL343961.1(33306-41170)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ccs1 copper chaperone for superoxide dismutase 60.76(n)
    62.73(a)
      496429  NM_001011020.1  NP_001011020.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ccs1 copper chaperone for superoxide dismutase 65.87(n)
    71.71(a)
      550489  NM_001204222.1  NP_001191151.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CCS1 , 3 intracellular copper ion transport
    superoxide more3
    CCS1
    48(a)3
    55.6(n)1
    52.46(a)1
      46F13
    460351  NM_001169637.21  NP_001163108.11 
    worm
    (Caenorhabditis elegans)
    Secernentea sod-16
    sod-56
    Protein SOD-5 (sod-5) mRNA, complete cds
    43(a)
    43(a)
    1 ↔ many
    1 ↔ many
    II(6972712-6973892) WBGene00004930
    II(4417683-4419131) WBGene00007036
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CCS1(YMR038C)4
    CCS11
    Copper chaperone for superoxide dismutase Sod1p, involved more4
    CCS11
    41.78(n)1
    30.22(a)1
      13(348260-347511)4
    8550541, 4  NP_013752.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CCS1 CCS 47.27(n)
    43.64(a)
      837808  NM_101123.3  NP_563910.2 
    rice
    (Oryza sativa)
    Liliopsida Os04g05732001 Os04g0573200 48.34(n)
    41.56(a)
      4336726  NM_001060148.1  NP_001053613.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCS gene
    SOD12  SOD32  
    1 SIMAP similar gene for CCS using alignment to 5 protein entries:     CCS_HUMAN (see all proteins):
    SOD1

    Find genes that share paralogs with CCS           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CCS (see all 394)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1470620181,2
    Cuntested166278765(+) TTGATA/G/TATTTG 1 -- us2k11NA 4550
    rs1484989441,2
    C--66278660(+) TTCTCC/TCAGCT 1 -- us2k10--------
    rs2012571461,2
    C--66278687(+) GATGGA/C/GAGGGA 1 -- us2k10--------
    rs758948271,2
    C--66278785(+) TTCTTG/TACGTA 1 -- us2k10--------
    rs1442145141,2
    C--66278787(+) CTTGAC/TGTAGA 1 -- us2k10--------
    rs1465635861,2
    C--66278981(+) GCCAGA/GTGGTT 1 -- us2k10--------
    rs1413035801,2
    C--66278999(+) GCTCCA/GGCCCC 1 -- us2k10--------
    rs1440928761,2
    C--66279017(+) TGGAAA/GGAGTC 1 -- us2k10--------
    rs2005763841,2
    C--66279056(+) GCAGCC/TGCCTG 1 -- us2k11Minor allele frequency- T:0.00EU 1321
    rs1431069571,2
    C--66279070(+) CACGAA/C/TCTCAT 1 -- us2k11NA 3644

    HapMap Linkage Disequilibrium report for CCS (66360292 - 66373490 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CCS:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv513321CNV Insertion21212237
    nsv363CNV Insertion18451855
    nsv522277CNV Loss19592680
    dgv1187n71CNV Loss21882294
    nsv897789CNV Gain21882294

    Human Gene Mutation Database (HGMD): CCS
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCS
    DNA2.0 Custom Variant and Variant Library Synthesis for CCS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603864    OMIM disorders: --

    1 disease for CCS:    
    About MalaCards
    amyotrophic lateral sclerosis

    1 disease from the University of Copenhagen DISEASES database for CCS:
    Menkes disease

    Find genes that share disorders with CCS           About GenesLikeMe

    2 Novoseek inferred disease relationships for CCS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amyotrophic lateral sclerosis 79.6 5 10793232 (2), 17504097 (1), 11585247 (1)
    alzheimers disease 1.1 1 17504097 (1)

    Genetic Association Database (GAD): CCS
    Human Genome Epidemiology (HuGE) Navigator: CCS (7 documents)

    Export disorders for CCS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CCS gene, integrated from 10 sources (see all 54):
    (articles sorted by number of sources associating them with CCS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The copper chaperone for superoxide dismutase. (PubMed id 9295278)1, 2, 3 Culotta V.C....Gitlin J.D. (J. Biol. Chem. 1997)
    2. The copper chaperone CCS directly interacts with copper/zinc superoxide dismutase. (PubMed id 9726962)1, 2, 9 Casareno R.L.B.... Gitlin J.D. (J. Biol. Chem. 1998)
    3. Regulation of the copper chaperone CCS by XIAP-mediated ubiquitination. (PubMed id 20154138)1, 2, 9 Brady G.F.... Duckett C.S. (Mol. Cell. Biol. 2010)
    4. Cysteine-to-serine mutants of the human copper chaperone for superoxide dismutase reveal a copper cluster at a domain III dimer interface. (PubMed id 15736924)1, 2, 9 Stasser J.P.... Blackburn N.J. (Biochemistry 2005)
    5. Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase. (PubMed id 22508683)1, 2 Huppke P.... Gartner J. (Hum. Mutat. 2012)
    6. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PubMed id 18977241)1, 4 Starr J.M....Deary I.J. (Mech. Ageing Dev. 2008)
    7. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. (PubMed id 17601350)1, 4 Harris S.E....Deary I.J. (BMC Genet. 2007)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Crystal structure of the second domain of the human copper chaperone for superoxide dismutase. (PubMed id 10677207)1, 2 Lamb A.L....Rosenzweig A.C. (Biochemistry 2000)
    10. The copper chaperone CCS is abundant in neurons and astrocytes in human and rodent brain. (PubMed id 9886096)1, 9 Rothstein J.D....Wong P.C. (J. Neurochem. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9973 HGNC: 1613 AceView: CCS Ensembl:ENSG00000173992 euGenes: HUgn9973
    ECgene: CCS Kegg: 9973 H-InvDB: CCS

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CCS Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CCS gene:
    Search GeneIP for patents involving CCS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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