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    CCS copper chaperone for superoxide dismutase [ Homo sapiens (human) ]

    Gene ID: 9973, updated on 27-Jun-2015
    Official Symbol
    CCSprovided by HGNC
    Official Full Name
    copper chaperone for superoxide dismutaseprovided by HGNC
    Primary source
    HGNC:HGNC:1613
    See related
    Ensembl:ENSG00000173992; HPRD:04841; MIM:603864; Vega:OTTHUMG00000167238
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Orthologs
    Location:
    11q13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (66593162..66606019)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66360630..66373490)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene cathepsin F Neighboring gene coiled-coil domain containing 87 Neighboring gene RBM14-RBM4 readthrough Neighboring gene RNA binding motif protein 14 Neighboring gene RNA binding motif protein 4 Neighboring gene RNA binding motif protein 4B

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Clone Names

    • MGC138260

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    copper ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    copper ion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein disulfide oxidoreductase activity TAS
    Traceable Author Statement
    more info
     
    superoxide dismutase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    copper ion transmembrane transport TAS
    Traceable Author Statement
    more info
    PubMed 
    intracellular copper ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    removal of superoxide radicals IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to reactive oxygen species TAS
    Traceable Author Statement
    more info
     
    superoxide metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    copper chaperone for superoxide dismutase
    Names
    copper chaperone for superoxide dismutase
    superoxide dismutase copper chaperone

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008733.1 RefSeqGene

      Range
      5001..17801
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005125.1NP_005116.1  copper chaperone for superoxide dismutase

      See identical proteins and their annotated locations for NP_005116.1

      Status: REVIEWED

      Source sequence(s)
      AF002210
      Consensus CDS
      CCDS8146.1
      UniProtKB/Swiss-Prot
      O14618
      Related
      ENSP00000307870, OTTHUMP00000235520, ENST00000310190, OTTHUMT00000393832
      Conserved Domains (3) summary
      PLN02957
      Location:14253
      PLN02957; copper, zinc superoxide dismutase
      cd00305
      Location:89227
      Cu-Zn_Superoxide_Dismutase; Copper/zinc superoxide dismutase (SOD). superoxide dismutases catalyse the conversion of superoxide radicals to molecular oxygen. Three evolutionarily distinct families of SODs are known, of which the copper/zinc-binding family is one. Defects in the ...
      cd00371
      Location:1573
      HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

      Range
      66593162..66606019
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_247219.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      66244421..66257221
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)