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

Summary

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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.
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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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:81716

STS-W67166 (e-PCR)
- UniSTS:65922

RH67876 (e-PCR)
- UniSTS:26012

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 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)

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
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)
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)