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COX17 cytochrome c oxidase copper chaperone COX17 [ Homo sapiens (human) ]

Gene ID: 10063, updated on 7-Apr-2024

Summary

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Official Symbol
COX17provided by HGNC
Official Full Name
cytochrome c oxidase copper chaperone COX17provided by HGNC
Primary source
HGNC:HGNC:2264
See related
Ensembl:ENSG00000138495 MIM:604813; AllianceGenome:HGNC:2264
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
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in heart (RPKM 52.4), adrenal (RPKM 37.4) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See COX17 in Genome Data Viewer
Location:
3q13.33
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (119663975..119677406, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (122383687..122397091, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (119382822..119396253, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20319 Neighboring gene ribosomal protein L10 pseudogene 7 Neighboring gene popeye domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20320 Neighboring gene uncharacterized LOC105374063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20322 Neighboring gene uncharacterized LOC105374064 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:119419489-119420688 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:119421355-119422034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20325 Neighboring gene cilia and flagella associated protein 91 Neighboring gene Sharpr-MPRA regulatory region 6912 Neighboring gene nuclear receptor subfamily 1 group I member 2 Neighboring gene PHB1 pseudogene 8

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A comparative study on the interactions of human copper chaperone Cox17 with anticancer organoruthenium(II) complexes and cisplatin by mass spectrometry. Li L, et al. J Inorg Biochem, 2016 Aug. PMID 27235272
  2. Glutathione selectively modulates the binding of platinum drugs to human copper chaperone Cox17. Zhao L, et al. Biochem J, 2015 Dec 1. PMID 26399480
  3. Functional role of two interhelical disulfide bonds in human Cox17 protein from a structural perspective. Banci L, et al. J Biol Chem, 2011 Sep 30. PMID 21816817, Free PMC Article
  4. Cox17, a copper chaperone for cytochrome c oxidase: expression, purification, and formation of mixed disulphide adducts with thiol reagents. Voronova A, et al. Protein Expr Purif, 2007 May. PMID 17208454
  5. A selective requirement for copper-dependent activation of cytochrome c oxidase by Cox17p. Kako K, et al. Biochem Biophys Res Commun, 2004 Nov 26. PMID 15504366

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. characterize the disorder-to-order transition of a Mia40 substrate, the human small copper chaperone Cox17
    Title: Disulfide driven folding for a conditionally disordered protein.
  2. These results collectively indicate that Cox17 might not participate in the action of these anticancer organoruthenium complexes, and further verify the distinct anticancer mechanism of the organoruthenium(II) complexes from cisplatin.
    Title: A comparative study on the interactions of human copper chaperone Cox17 with anticancer organoruthenium(II) complexes and cisplatin by mass spectrometry.
  3. In addition to Atox1, the human cytoplasm also contains Cu chaperones for loading of superoxide dismutase 1 (i.e. CCS) and cytochrome c oxidase in mitochondria (i.e. Cox17). [review]
    Title: Extended functional repertoire for human copper chaperones.
  4. Data show that the redox state of cytochrome c oxidase assembly protein 17 (Cox17), mitochondrial membrane transport protein Mia40 and superoxide dismutase 1 (SOD1) in the cytoplasm were directly observed with in-cell NMR spectroscopy.
    Title: Direct structural evidence of protein redox regulation obtained by in-cell NMR.
  5. Data suggest that Cox17 enhances the reactivity of some platinum/organoplatinum antineoplastic drugs but suppresses the reactivity of at least one platinum antineoplastic drug; glutathione modulates binding of platinum/organoplatinum drugs to Cox17.
    Title: Glutathione selectively modulates the binding of platinum drugs to human copper chaperone Cox17.
  6. CTR1 silencing increased the protein levels of copper chaperone ATOX1 and copper chaperone for superoxide dismutase 1 (CCS-1), but decreased copper chaperone for cytochrome c oxidase (COX17).
    Title: Changes in copper concentrations affect the protein levels but not the mRNA levels of copper chaperones in human umbilical vein endothelial cells.
  7. Functional role of two interhelical disulfide bonds in human Cox17 protein from a structural perspective.
    Title: Functional role of two interhelical disulfide bonds in human Cox17 protein from a structural perspective.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  9. the absence of Cox17 interferes with copper delivery to Cox2, but not to Cox1.
    Title: Knockdown of human COX17 affects assembly and supramolecular organization of cytochrome c oxidase.
  10. Cu(I)HCox17(2S-S), i.e., the copper-loaded form of the protein, can transfer simultaneously copper(I) and two electrons to the human cochaperone Sco1 (HSco1) in the oxidized state, i.e., with its metal-binding cysteines forming a disulfide bond.
    Title: Mitochondrial copper(I) transfer from Cox17 to Sco1 is coupled to electron transfer.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC104397, MGC117386

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables copper chaperone activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables copper chaperone activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables copper chaperone activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables copper ion binding TAS
Traceable Author Statement
more info
 PubMed 
enables cuprous ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables enzyme activator activity IEA
Inferred from Electronic Annotation
more info
  
enables ion binding EXP
Inferred from Experiment
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in copper ion transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
 PubMed 
involved_in mitochondrial cytochrome c oxidase assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial cytochrome c oxidase assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cytochrome-c oxidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in mitochondrial intermembrane space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
cytochrome c oxidase copper chaperone
Names
COX17 cytochrome c oxidase assembly homolog
COX17, cytochrome c oxidase copper chaperone
cytochrome c oxidase 17 copper chaperone
cytochrome c oxidase assembly homolog 17
human homolog of yeast mitochondrial copper recruitment

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.

mRNA and Protein(s)

  1. NM_001382002.1 → NP_001368931.1  cytochrome c oxidase copper chaperone isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC023494
    Consensus CDS
    CCDS93345.1
    UniProtKB/TrEMBL
    C9J8T6
    Related
    ENSP00000417651.1, ENST00000484810.5

  2. NM_001382003.1 → NP_001368932.1  cytochrome c oxidase copper chaperone isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variant 2, encodes isoform b.
    Source sequence(s)
    AC023494
    Consensus CDS
    CCDS2993.1
    UniProtKB/Swiss-Prot
    B2R5D2, D3DN84, Q14061, Q3MHD6
    UniProtKB/TrEMBL
    H7C4E5
    Related
    ENSP00000417923.1, ENST00000497116.1
    Conserved Domains (1) summary
    pfam05051
    Location:18 → 63
    COX17; Cytochrome C oxidase copper chaperone (COX17)

  3. NM_005694.2 → NP_005685.1  cytochrome c oxidase copper chaperone isoform b

    See identical proteins and their annotated locations for NP_005685.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), as well as variant 3, encodes isoform b.
    Source sequence(s)
    AC023494
    Consensus CDS
    CCDS2993.1
    UniProtKB/Swiss-Prot
    B2R5D2, D3DN84, Q14061, Q3MHD6
    UniProtKB/TrEMBL
    H7C4E5
    Related
    ENSP00000261070.2, ENST00000261070.7
    Conserved Domains (1) summary
    pfam05051
    Location:18 → 63
    COX17; Cytochrome C oxidase copper chaperone (COX17)

RNA

  1. NR_167771.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC023494

  2. NR_167772.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC023494

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    119663975..119677406 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    122383687..122397091 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14061.2 GenPept UniProtKB/Swiss-Prot:Q14061

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