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 electr... See more...

Aliases for COX17 Gene

Aliases for COX17 Gene

  • Cytochrome C Oxidase Copper Chaperone COX17 2 3 5
  • COX17, Cytochrome C Oxidase Copper Chaperone 2 3
  • Cytochrome C Oxidase Copper Chaperone 3 4
  • COX17 (Yeast) Homolog, Cytochrome C Oxidase Assembly Protein 2
  • COX17 Cytochrome C Oxidase Assembly Homolog (S. Cerevisiae) 2
  • Human Homolog Of Yeast Mitochondrial Copper Recruitment 3
  • COX17 Cytochrome C Oxidase Assembly Homolog 3
  • Cytochrome C Oxidase 17 Copper Chaperone 3
  • Cytochrome C Oxidase Assembly Homolog 17 3

External Ids for COX17 Gene

Previous GeneCards Identifiers for COX17 Gene

  • GC03M116001
  • GC03M119017
  • GC03M120642
  • GC03M120709
  • GC03M120871
  • GC03M119373
  • GC03M116764

Summaries for COX17 Gene

Entrez Gene Summary for COX17 Gene

  • 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]

GeneCards Summary for COX17 Gene

COX17 (Cytochrome C Oxidase Copper Chaperone COX17) is a Protein Coding gene. Among its related pathways are Mitochondrial protein import and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include copper ion binding and copper chaperone activity.

UniProtKB/Swiss-Prot Summary for COX17 Gene

  • Copper metallochaperone essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase. Binds two copper ions and delivers them to the metallochaperone SCO1 which transports the copper ions to the Cu(A) site on the cytochrome c oxidase subunit II (MT-CO2/COX2).

Gene Wiki entry for COX17 Gene

Additional gene information for COX17 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COX17 Gene

Genomics for COX17 Gene

GeneHancer (GH) Regulatory Elements for COX17 Gene

Promoters and enhancers for COX17 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J119675 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 764.9 +0.5 456 2.8 PPP1R10 FOXK2 E2F8 SIN3A SP1 ZBTB40 LCORL FOXA1 RBPJ POLR2A COX17 POPDC2 lnc-POPDC2-4 MAATS1 CD80
GH03J119635 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.4 +39.3 39295 4.5 SP1 SMARCE1 TCF7L2 USF2 FOS MYC ETV6 ELF1 RELA HLF RPL10P7 FSTL1 ADPRH RPS26P21 COX17 ARHGAP31 MAATS1 PLA1A GSK3B lnc-POPDC2-2
GH03J119656 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 14.6 +16.8 16827 6.5 RELA CREM POLR2A ZNF512 ZNF316 MAFG IKZF1 JUNB RCOR1 DPF2 POPDC2 COX17 RPL10P7 CD80 MAATS1 ARHGAP31 ADPRH PLA1A
GH03J119630 Enhancer 1 FANTOM5 ENCODE dbSUPER 14 +46.5 46475 1.8 L3MBTL2 ZFX MAFK BACH1 ZNF639 ZNF316 NFE2 SCRT2 ZNF766 MAFG RPL10P7 COX17 ADPRH ARHGAP31 MAATS1 GSK3B CD80 piR-30832-007 lnc-POPDC2-5
GH03J119642 Enhancer 1 Ensembl ENCODE dbSUPER 14 +34.0 33953 2.6 L3MBTL2 MAX ZNF687 ZNF639 MGA EED FOS NR2C2 JUNB MNT POPDC2 RPL10P7 COX17 ADPRH
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COX17 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COX17 gene promoter:
  • c-Ets-1
  • Nkx6-1
  • POU2F1
  • POU2F1a
  • Sp1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT3

Genomic Locations for COX17 Gene

Genomic Locations for COX17 Gene
chr3:119,654,513-119,677,454
(GRCh38/hg38)
Size:
22,942 bases
Orientation:
Minus strand
chr3:119,373,360-119,396,301
(GRCh37/hg19)
Size:
22,942 bases
Orientation:
Minus strand

Genomic View for COX17 Gene

Genes around COX17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX17 Gene

Proteins for COX17 Gene

  • Protein details for COX17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14061-COX17_HUMAN
    Recommended name:
    Cytochrome c oxidase copper chaperone
    Protein Accession:
    Q14061
    Secondary Accessions:
    • B2R5D2
    • D3DN84
    • Q3MHD6

    Protein attributes for COX17 Gene

    Size:
    63 amino acids
    Molecular mass:
    6915 Da
    Quaternary structure:
    • Interacts with COA1. Interacts with the chaperone CHCHD4; this is important for correct folding and the formation of disulfide bonds that stabilize the structure.

    Three dimensional structures from OCA and Proteopedia for COX17 Gene

neXtProt entry for COX17 Gene

Post-translational modifications for COX17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COX17 Gene

No data available for DME Specific Peptides for COX17 Gene

Domains & Families for COX17 Gene

Gene Families for COX17 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for COX17 Gene

Suggested Antigen Peptide Sequences for COX17 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome c oxidase copper chaperone (COX17_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14061

UniProtKB/Swiss-Prot:

COX17_HUMAN :
  • Belongs to the COX17 family.
Family:
  • Belongs to the COX17 family.
genes like me logo Genes that share domains with COX17: view

Function for COX17 Gene

Molecular function for COX17 Gene

UniProtKB/Swiss-Prot Function:
Copper metallochaperone essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase. Binds two copper ions and delivers them to the metallochaperone SCO1 which transports the copper ions to the Cu(A) site on the cytochrome c oxidase subunit II (MT-CO2/COX2).

Gene Ontology (GO) - Molecular Function for COX17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005507 copper ion binding TAS 9050918
GO:0005515 protein binding IPI 16189514
GO:0016531 copper chaperone activity IMP,ISS --
GO:0046872 metal ion binding IEA --
GO:1903136 cuprous ion binding IDA 18093982
genes like me logo Genes that share ontologies with COX17: view
genes like me logo Genes that share phenotypes with COX17: view

Animal Models for COX17 Gene

MGI Knock Outs for COX17:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COX17 Gene

Localization for COX17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX17 Gene

Mitochondrion intermembrane space. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COX17 gene
Compartment Confidence
mitochondrion 5
cytosol 3
extracellular 2
golgi apparatus 1
nucleus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COX17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 19393246
GO:0005739 mitochondrion IEA --
GO:0005758 mitochondrial intermembrane space IDA 19393246
genes like me logo Genes that share ontologies with COX17: view

Pathways & Interactions for COX17 Gene

genes like me logo Genes that share pathways with COX17: view

Pathways by source for COX17 Gene

2 BioSystems pathways for COX17 Gene
2 Reactome pathways for COX17 Gene
1 Qiagen pathway for COX17 Gene
  • AMPK Enzyme Complex Pathway

Gene Ontology (GO) - Biological Process for COX17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS 9050918
GO:0006825 copper ion transport TAS,IEA --
GO:0007420 brain development IEA --
GO:0007507 heart development IEA --
GO:0008284 positive regulation of cell proliferation IMP 19393246
genes like me logo Genes that share ontologies with COX17: view

No data available for SIGNOR curated interactions for COX17 Gene

Drugs & Compounds for COX17 Gene

(1) Drugs for COX17 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Carrier, binder 227

(1) Additional Compounds for COX17 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COX17: view

Transcripts for COX17 Gene

mRNA/cDNA for COX17 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COX17 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6
SP1: - - - - -
SP2: - - - -
SP3: -
SP4: - - -
SP5:

Relevant External Links for COX17 Gene

GeneLoc Exon Structure for
COX17
ECgene alternative splicing isoforms for
COX17

Expression for COX17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COX17 Gene

Protein differential expression in normal tissues from HIPED for COX17 Gene

This gene is overexpressed in Stomach (9.5) and Islet of Langerhans (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COX17 Gene



Protein tissue co-expression partners for COX17 Gene

NURSA nuclear receptor signaling pathways regulating expression of COX17 Gene:

COX17

SOURCE GeneReport for Unigene cluster for COX17 Gene:

Hs.534383

mRNA Expression by UniProt/SwissProt for COX17 Gene:

Q14061-COX17_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for COX17 Gene

  • Liver(4.5)
  • Nervous system(4.4)
  • Heart(2.6)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with COX17: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for COX17 Gene

Orthologs for COX17 Gene

This gene was present in the common ancestor of animals.

Orthologs for COX17 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia COX17 33
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COX17 33 32
  • 100 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gm21987 33
  • 92 (a)
OneToMany
Cox17 17 33 32
  • 87.83 (n)
dog
(Canis familiaris)
Mammalia COX17 33 32
  • 90.48 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cox17 32
  • 89.42 (n)
cow
(Bos Taurus)
Mammalia COX17 33 32
  • 88.89 (n)
OneToOne
chicken
(Gallus gallus)
Aves COX17 33 32
  • 76.44 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cox17 32
  • 74.71 (n)
Str.3403 32
zebrafish
(Danio rerio)
Actinopterygii cox17 33 32
  • 72.32 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4443 32
fruit fly
(Drosophila melanogaster)
Insecta CG9065 33
  • 41 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cox-17 33
  • 60 (a)
OneToOne
Species where no ortholog for COX17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COX17 Gene

ENSEMBL:
Gene Tree for COX17 (if available)
TreeFam:
Gene Tree for COX17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COX17: view image

Paralogs for COX17 Gene

No data available for Paralogs for COX17 Gene

Variants for COX17 Gene

Sequence variations from dbSNP and Humsavar for COX17 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000189096 -- 119,674,172(-) C/T intron_variant
rs1000444989 -- 119,674,061(-) C/T intron_variant
rs1001309176 -- 119,673,480(-) A/C intron_variant
rs1001404745 -- 119,670,739(-) T/C intron_variant
rs1002329006 -- 119,673,313(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for COX17 Gene

Variant ID Type Subtype PubMed ID
esv3568977 CNV loss 25503493
nsv1014394 CNV loss 25217958
nsv460834 CNV gain 19166990
nsv591390 CNV gain 21841781

Variation tolerance for COX17 Gene

Residual Variation Intolerance Score: 51.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.31; 70.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COX17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX17

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX17 Gene

Disorders for COX17 Gene

Additional Disease Information for COX17

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for COX17 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COX17 Gene

Publications for COX17 Gene

  1. Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment. (PMID: 9050918) Amaravadi R … Tzagoloff A (Human genetics 1997) 2 3 4 23 56
  2. Functional role of two interhelical disulfide bonds in human Cox17 protein from a structural perspective. (PMID: 21816817) Banci L … Gallo A (The Journal of biological chemistry 2011) 2 3 4 56
  3. Characterization and localization of human COX17, a gene involved in mitochondrial copper transport. (PMID: 10982038) Punter FA … Glerum DM (Human genetics 2000) 3 4 23 56
  4. Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase. (PMID: 22356826) Szklarczyk R … Huynen MA (Genome biology 2012) 3 4 56
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56

Products for COX17 Gene

Sources for COX17 Gene