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

    Gene ID: 10063, updated on 2-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (119663975..119677406, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (122383687..122397091, complement)
    RS_2024_09 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 cAMP effector 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 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. 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
    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. 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
    4. Identification of COX17 as a therapeutic target for non-small cell lung cancer. Suzuki C, et al. Cancer Res, 2003 Nov 1. PMID 14612491
    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 (50) 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)

    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 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 
    located_in mitochondrial intermembrane space TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP 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_2024_08

    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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