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Aliases for COX17 Gene

Aliases for COX17 Gene

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

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 (COX17 Cytochrome C Oxidase Copper Chaperone) is a Protein Coding gene. Diseases associated with COX17 include isolated cytochrome c oxidase deficiency. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include copper ion binding and copper chaperone activity.

UniProtKB/Swiss-Prot for COX17 Gene

  • Copper chaperone for cytochrome c oxidase (COX). Binds two copper ions and deliver them to the Cu(A) site of COX (By similarity).

Gene Wiki entry for COX17 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX17 Gene

Genomics for COX17 Gene

Regulatory Elements for COX17 Gene

Enhancers for COX17 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around COX17 on UCSC Golden Path with GeneCards custom track

Promoters for COX17 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COX17 on UCSC Golden Path with GeneCards custom track

Genomic Location for COX17 Gene

Chromosome:
3
Start:
119,654,513 bp from pter
End:
119,677,454 bp from pter
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

Proteomics data for COX17 Gene at MOPED

Post-translational modifications for COX17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COX17 Gene

Antibody Products

No data available for DME Specific Peptides for COX17 Gene

Domains & Families for COX17 Gene

Protein Domains for COX17 Gene

Suggested Antigen Peptide Sequences for COX17 Gene

GenScript: Design optimal peptide antigens:

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 chaperone for cytochrome c oxidase (COX). Binds two copper ions and deliver them to the Cu(A) site of COX (By similarity).

Gene Ontology (GO) - Molecular Function for COX17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016531 copper chaperone activity IEA --
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

No data available for Enzyme Numbers (IUBMB) , 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COX17 Gene COMPARTMENTS Subcellular localization image for COX17 gene
Compartment Confidence
mitochondrion 5
cytosol 3
extracellular 2
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for COX17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
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

1 BioSystems pathway for COX17 Gene
2 Reactome pathways for COX17 Gene
2 KEGG pathways for COX17 Gene
1 Qiagen pathway for COX17 Gene

Gene Ontology (GO) - Biological Process for COX17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007507 heart development IEA --
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: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Pharma 161

(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

Unigene Clusters for COX17 Gene

Cytochrome c oxidase assembly homolog 17 (yeast):
Representative Sequences:

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 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, PaxDb, MOPED, and MaxQB for COX17 Gene



SOURCE GeneReport for Unigene cluster for COX17 Gene Hs.534383

mRNA Expression by UniProt/SwissProt for COX17 Gene

Q14061-COX17_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with COX17: view

Protein tissue co-expression partners for COX17 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia COX17 35
  • 88.89 (n)
  • 90.48 (a)
COX17 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COX17 35
  • 90.48 (n)
  • 90.48 (a)
COX17 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cox17 35
  • 87.83 (n)
  • 92.06 (a)
Cox17 16
Cox17 36
  • 92 (a)
OneToMany
Gm21987 36
  • 92 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia COX17 35
  • 100 (n)
  • 100 (a)
COX17 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cox17 35
  • 89.42 (n)
  • 92.06 (a)
oppossum
(Monodelphis domestica)
Mammalia COX17 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves COX17 35
  • 76.44 (n)
  • 86.21 (a)
COX17 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cox17 35
  • 74.71 (n)
  • 82.76 (a)
Str.3403 35
zebrafish
(Danio rerio)
Actinopterygii cox17 35
  • 72.32 (n)
  • 79.66 (a)
cox17 36
  • 69 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4443 35
fruit fly
(Drosophila melanogaster)
Insecta CG9065 36
  • 41 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cox-17 36
  • 60 (a)
OneToOne
Species with no ortholog for COX17:
  • 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)

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 Sequence Context AA Info Type
rs2280578 -- 119,676,952(-) TCGGG(G/T)CTCTG intron-variant
rs2293235 -- 119,675,321(-) TACCC(A/G/T)TGTTT intron-variant
rs523476 -- 119,676,815(+) TACAT(C/G/T)TTCGG intron-variant
rs4327424 -- 119,671,997(+) TCAGA(C/T)TGTTC intron-variant
rs549001 -- 119,676,364(+) TTATA(C/G)CACTA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv460834 CNV Gain 19166990

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)

Relevant External Links for COX17 Gene

HapMap Linkage Disequilibrium report
COX17

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

Disorders for COX17 Gene

MalaCards: The human disease database

(1) MalaCards diseases for COX17 Gene - From: GeneCards

Disorder Aliases PubMed IDs
isolated cytochrome c oxidase deficiency
  • isolated cox deficiency
- elite association - COSMIC cancer census association via MalaCards
Search COX17 in MalaCards View complete list of genes associated with diseases

Relevant External Links for COX17

Genetic Association Database (GAD)
COX17
Human Genome Epidemiology (HuGE) Navigator
COX17
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COX17
genes like me logo Genes that share disorders with COX17: view

No data available for 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. (Hum. Genet. 1997) 2 3 4 23 67
  2. Functional role of two interhelical disulfide bonds in human Cox17 protein from a structural perspective. (PMID: 21816817) Banci L. … Gallo A. (J. Biol. Chem. 2011) 2 3
  3. Identification of COX17 as a therapeutic target for non-small cell lung cancer. (PMID: 14612491) Suzuki C. … Nakamura Y. (Cancer Res. 2003) 3 23
  4. Characterization and localization of human COX17, a gene involved in mitochondrial copper transport. (PMID: 10982038) Punter F.A. … Glerum D.M. (Hum. Genet. 2000) 3 23
  5. Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. (PMID: 11027508) Horvath R. … Jaksch M. (Biochem. Biophys. Res. Commun. 2000) 3 23

Products for COX17 Gene

Sources for COX17 Gene

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