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

Gene ID: 9973, updated on 3-Jan-2019

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
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

Genomic context

See CCS in Genome Data Viewer
Location:
11q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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, 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from KEGG)
    Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
  • Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from WikiPathways)
    Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
  • Amyotrophic lateral sclerosis (ALS), conserved biosystem (from KEGG)
    Amyotrophic lateral sclerosis (ALS), conserved biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Copper homeostasis, organism-specific biosystem (from WikiPathways)
    Copper homeostasis, organism-specific biosystemCopper is a redox-active transition metal and an essential trace element for life. It is a catalytic cofactor for numerous enzymes involved in critical biological processes (eg. detoxyfication by oxy...
  • Detoxification of Reactive Oxygen Species, organism-specific biosystem (from REACTOME)
    Detoxification of Reactive Oxygen Species, organism-specific biosystemReactive oxygen species such as superoxide (O2.-), peroxides (ROOR), singlet oxygen, peroxynitrite (ONOO-), and hydroxyl radical (OH.) are generated by cellular processes such as respiration (reviewe...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138260

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding HDA PubMed 
copper ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
copper ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein disulfide oxidoreductase activity TAS
Traceable Author Statement
more info
 
NOT superoxide dismutase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
superoxide dismutase copper chaperone activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cellular response to oxidative stress TAS
Traceable Author Statement
more info
 
metal ion transport IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
protein maturation by copper ion transfer TAS
Traceable Author Statement
more info
PubMed 
removal of superoxide radicals IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
superoxide metabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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_005125.2NP_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
    Related
    ENSP00000436318.1, ENST00000533244.5
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

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

RNA

  1. XR_247219.2 RNA Sequence

    Related
    ENST00000530961.5
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