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

    Gene ID: 9973, updated on 27-Nov-2024

    Summary

    Official Symbol
    CCSprovided by HGNC
    Official Full Name
    copper chaperone for superoxide dismutaseprovided by HGNC
    Primary source
    HGNC:HGNC:1613
    See related
    Ensembl:ENSG00000173992 MIM:603864; AllianceGenome:HGNC:1613
    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]
    Expression
    Ubiquitous expression in liver (RPKM 18.8), spleen (RPKM 17.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CCS in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66593185..66606019)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66589431..66602265)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66360656..66373490)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66332233-66332732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3598 Neighboring gene Sharpr-MPRA regulatory region 510 Neighboring gene cathepsin F Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:66340443-66341194 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:66341195-66341945 Neighboring gene MPRA-validated peak1305 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66346187-66347000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66359320-66359909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66359910-66360498 Neighboring gene coiled-coil domain containing 87 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5053 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66384051-66384984 Neighboring gene RBM14-RBM4 readthrough Neighboring gene RNA, U4 small nuclear 39, pseudogene Neighboring gene RNA binding motif protein 14

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC138260

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding HDA PubMed 
    enables copper ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables copper ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-disulfide reductase activity TAS
    Traceable Author Statement
    more info
     
    enables superoxide dismutase copper chaperone activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to oxidative stress TAS
    Traceable Author Statement
    more info
     
    involved_in protein maturation by copper ion transfer TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in removal of superoxide radicals IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in superoxide metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    copper chaperone for superoxide dismutase
    Names
    superoxide dismutase copper chaperone

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4967..17801
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005125.2NP_005116.1  copper chaperone for superoxide dismutase

      See identical proteins and their annotated locations for NP_005116.1

      Status: REVIEWED

      Source sequence(s)
      AF002210, AP001157
      Consensus CDS
      CCDS8146.1
      UniProtKB/Swiss-Prot
      O14618, Q2M366, Q8NEV0
      UniProtKB/TrEMBL
      J3KNF4
      Related
      ENSP00000436318.1, ENST00000533244.6
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      66593185..66606019
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      66589431..66602265
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)