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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CCS Gene

protein-coding   GIFtS: 64
GCID: GC11P066360

Copper Chaperone For Superoxide Dismutase
Alzheimer's & Parkinson's Diseases Congress
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Aliases
for CCS gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
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


Summaries
for CCS gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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 anus neoplasm, and apical myocardial infarction, and among its related super-pathways are Pathogenesis of ALS. GO annotations related to this gene include superoxide dismutase 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


Genomic Views
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences 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 plasmid: CCS promoter sequence
   Search SABiosciences Chromatin IP Primers for CCS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for CCS gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
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
Subcellular location: Cytoplasm
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:

  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14618

    • CCS Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CCS Protein Expression
    REFSEQ proteins: NP_005116.1  
    ENSEMBL proteins: 
     ENSP00000436318   ENSP00000433609   ENSP00000307870   ENSP00000436379  

    Human Recombinant Protein Products for CCS: 
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for CCS
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for CCS
    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. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    CCS for ontologies           About GeneDecksing



    CCS Antibody Products: 
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    Abcam antibodies for CCS
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    ThermoFisher Antibodies for CCS
    LSBio Antibodies in human, mouse, rat for CCS 

    Assay Products for CCS: 
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    Browse CLIAs at Cloud-Clone Corp.

    Protein Domains /
    Families
    for CCS gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 5 InterPro protein domains:
     IPR006121 HeavyMe-assoc_HMA
     IPR001424 SOD_Cu_Zn_dom
     IPR024134 SOD_Cu/Zn_/chaperones
     IPR018152 SOD_Cu/Zn_BS
     IPR024142 SOD_Cu_chaperone

    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


    CCS for domains           About GeneDecksing


    Function
    for CCS gene

    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    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--
         
    CCS for ontologies           About GeneDecksing


    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 

    CCS for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ccstm1Pcw for CCS

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CCS 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:            		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CCS
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CCS
    SwitchGear 3'UTR luciferase reporter plasmid: CCS 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CCS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCS

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CCS
    Sirion Biotech Customized adenovirus for overexpression of CCS

    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of CCS 

    Cell Line
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    Search LifeMap BioReagents cell lines for CCS
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCS


    Pathways & Interactions
    for CCS gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CCS About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Pathogenesis of ALS
    		Amyotrophic lateral sclerosis (ALS)0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



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


    CCS for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CCS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/20 Interacting proteins for CCS (O146183 ENSP000003078704) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SOD1P004413, ENSP000002701424I2D: score=4 STRING: ENSP00000270142
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    APBA1Q024103, ENSP000002653814I2D: score=3 STRING: ENSP00000265381
    XIAPP981703, ENSP000003478584I2D: score=1 STRING: ENSP00000347858
    YWHAGP619813, ENSP000003063304I2D: score=1 STRING: ENSP00000306330
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (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

    CCS for ontologies           About GeneDecksing



    Drugs & Compounds
    for CCS gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CCS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about CCS

    Transcripts
    for CCS gene

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    Products:             		 QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CCS
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CCS
    SwitchGear 3'UTR luciferase reporter plasmid: CCS 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CCS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCS
    Clone
    Products:             		 OriGene clones in human, mouse for CCS (see all 7)
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCS
    Sirion Biotech Customized lentivirus for stable overexpression of CCS 
                         Customized lentivirus expression plasmids for stable overexpression of CCS 
    Primer
    Products:            		OriGene qPCR primer pairs and template standards for CCS
    OriGene qSTAR qPCR primer pairs in human, mouse for CCS
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CCS
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCS
      QIAGEN 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 

    24/217 AceView cDNA sequences (see all 217):

    NM_005125 CB105003 BX494932 CB105004 AA602749 BM675344 CR541928 BQ082347 
    BM725666 CR592698 BM974638 BE549602 CB105001 BQ708701 BQ082523 BQ447121 
    AF002210 CF131037 BG575138 BQ651373 BM969178 BQ939809 AA326686 CA412792 

    GeneLoc Exon Structure

    5/8 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

    Expression
    for CCS gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See CCS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCS

    SOURCE GeneReport for Unigene cluster: Hs.502917

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

        SABiosciences Expression via Pathway-Focused 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
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    QIAGEN 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
    for CCS gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CCS gene from 8/15 species (see all 15)    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
    		 Uncharacterized protein
    		 64(a)
    		 1 ↔ 1
    		 GL343961.1(33306-41170)
    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_001169637.11  NP_001163108.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea sod-16
    sod-56
    		 Protein SOD-5
    		 40(a)
    38(a)
    		 possible ortholog
    possible ortholog
    		 II(6972712-6973892)
    II(4417683-4419131)
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes CCS1(YMR038C)4 Copper chaperone for superoxide dismutase Sod1p, involved more   --   13(348260-347511) 855054  NP_013752.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons CCS1 copper chaperone for SOD1 47.12(n)
    43.64(a)    		   837808  NM_101123.3  NP_563910.2 
    rice
    (Oryza sativa)    		 Liliopsida Os04g05732001 hypothetical protein 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
    for CCS gene

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

    CCS for paralogs           About GeneDecksing



    Genomic Variants
    for CCS gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/394 SNPs in CCS are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CCS
    DNA2.0 Custom Variant and Variant Library Synthesis for CCS

    Disorders / Diseases
    for CCS gene

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

    11 diseases for CCS:    About MalaCards
    anus neoplasm    apical myocardial infarction    hemopericardium    choledochal cyst
    lateral sclerosis    amyotrophic lateral sclerosis    wilson disease    alzheimer's disease
    cholangiocarcinoma    myocardial infarction    neuronitis

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

    CCS for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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

    Publications
    for CCS gene

    (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)
    About This Section

    PubMed articles for CCS gene, integrated from 9 sources (see all 51):
    (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. (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. (1998)
    3. Regulation of the copper chaperone CCS by XIAP-mediat ed ubiquitination. (PubMed id 20154138)1, 2, 9 Brady G.F....Duckett C.S. (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. (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. (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. (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. (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. (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. (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. (1999)

    External Searches for CCS gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CCS gene

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

    Other Databases showing CCS gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CCS gene

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

    Intellectual Property
    for CCS gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

     
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