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

Gene ID: 9973, updated on 6-Sep-2022

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
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Genomic context

See CCS in Genome Data Viewer
Location:
11q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66593185..66606019)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66589431..66602265)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66360656..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 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

Homology

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
PubMed 
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
 
NOT enables superoxide dismutase activity IBA
Inferred from Biological aspect of Ancestor
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 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)

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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, Q8NEV0
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)