COX17

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COX17
Protein COX17 PDB 2RN9.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOX17, cytochrome c oxidase copper chaperone, cytochrome c oxidase copper chaperone COX17
External IDsMGI: 1333806 HomoloGene: 38089 GeneCards: COX17
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for COX17
Genomic location for COX17
Band3q13.33Start119,654,513 bp[1]
End119,677,454 bp[1]
RNA expression pattern
PBB GE COX17 203880 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005694

NM_001017429

RefSeq (protein)

NP_005685

NP_001017429

Location (UCSC)Chr 3: 119.65 – 119.68 MbChr 16: 38.35 – 38.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cytochrome c oxidase copper chaperone is a protein that in humans is encoded by the COX17 gene.[5][6]

Function[edit]

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.[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000138495 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000046516 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Amaravadi R, Glerum DM, Tzagoloff A (Mar 1997). "Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment". Hum Genet. 99 (3): 329–33. doi:10.1007/s004390050367. PMID 9050918.
  6. ^ a b "Entrez Gene: COX17 COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)".

Further reading[edit]

External links[edit]