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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

External Ids for COX17 Gene

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 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Metabolism. 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

Genomic Location for COX17 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COX17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX17 Gene

Regulatory Elements 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

No data available for DME Specific Peptides for COX17 Gene

Domains for COX17 Gene

Gene Families for COX17 Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

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
Family:
  • Belongs to the COX17 family.:
    • Q14061
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:0005507 copper ion binding TAS 9050918
GO:0005515 protein binding IPI 16189514
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

miRNA for COX17 Gene

miRTarBase miRNAs that target COX17

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
cytosol 3
mitochondrion 3
extracellular 2
nucleus 1

Gene Ontology (GO) - Cellular Components for COX17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 9050918
GO:0005739 mitochondrion IDA --
GO:0005758 mitochondrial intermembrane space IEA --
genes like me logo Genes that share ontologies with COX17: view

Pathways for COX17 Gene

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

Pathways by source for COX17 Gene

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

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 IEA --
GO:0007420 brain development IEA --
GO:0007507 heart development IEA --
genes like me logo Genes that share ontologies with COX17: view

Compounds for COX17 Gene

(1) HMDB Compounds for COX17 Gene

Compound Synonyms Cas Number PubMed IDs
Copper
  • Cu
7440-50-8

(2) Novoseek inferred chemical compound relationships for COX17 Gene

Compound -log(P) Hits PubMed IDs
copper 65.1 12
superoxide 12.4 2
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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with COX17: view

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia COX17 35
  • 100 (n)
  • 100 (a)
COX17 36
  • 95 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia COX17 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cox17 35
  • 89.42 (n)
  • 92.06 (a)
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
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4443 35
zebrafish
(Danio rerio)
Actinopterygii cox17 35
  • 72.32 (n)
  • 79.66 (a)
cox17 36
  • 69 (a)
OneToOne
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 MAF
rs523476 -- 119,676,815(+) TACAT(C/G)TTCGG intron-variant
rs549001 -- 119,676,364(+) TTATA(C/G)CACTA intron-variant
rs559931 -- 119,675,508(+) GAGTA(A/G)CACTG intron-variant
rs1317259 -- 119,673,863(-) agggc(A/G)gtggG intron-variant
rs1806759 -- 119,673,980(-) tgggg(C/T)ggtgg intron-variant

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

Variant ID Type Subtype PubMed ID
nsv460834 CNV Gain 19166990

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

(2) University of Copenhagen DISEASES for COX17 Gene

Relevant External Links for COX17

Genetic Association Database (GAD)
COX17
Human Genome Epidemiology (HuGE) Navigator
COX17
genes like me logo Genes that share disorders with COX17: view

No data available for UniProtKB/Swiss-Prot 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
  2. 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 4 23
  3. 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 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  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

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate COX17
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat
  • Predesigned siRNA for gene silencing in human,mouse,rat for COX17
  • Block miRNA regulation of COX17 using miScript Target Protectors

Sources for COX17 Gene

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