COX17

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

COX17
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOX17, cytochrome c oxidase copper chaperone, cytochrome c oxidase copper chaperone COX17
External IDsOMIM: 604813 MGI: 1333806 HomoloGene: 38089 GeneCards: COX17
Gene location (Human)
Chr.Chromosome 3 (human)[1]
Band3q13.33Start119,654,513 bp[1]
End119,677,454 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

10063

12856

Ensembl

ENSG00000138495

ENSMUSG00000046516

UniProt

Q14061

P56394

RefSeq (mRNA)

NM_005694

NM_001017429

RefSeq (protein)

NP_005685
NP_001368931
NP_001368932

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

Function

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

  1. GRCh38: Ensembl release 89: ENSG00000138495 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000046516 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. S2CID 30340147.
  6. "Entrez Gene: COX17 COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)".

Further reading


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