Property Summary

NCBI Gene PubMed Count 17
Grant Count 2
R01 Count 2
Funding $280,555.5
PubMed Score 5.50
PubTator Score 5.62

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
non-small cell lung cancer 1.017 0.000
intraductal papillary-mucinous neoplasm ... 1.200 0.025
breast carcinoma 1.500 0.000
invasive ductal carcinoma 1.100 0.002
ovarian cancer 1.900 0.000
Breast cancer 1.200 0.000

Synonym

Accession Q5JTJ3 Q5JTJ2 Q5JTJ4 Q8TA88
Symbols C1orf31
CEMCOX4

Gene

 Grant Application (2)

Gene RIF (6)

PMID Text
26160915 Results find that COA6 associates with COX2 and is crucial for its maturation and complex IV biogenesis. Also, COA6 interacts with the copper chaperone SCO1 which indicates that COA6 is intrinsically involved in the copper delivery process for COX2.
25959673 Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
22356826 Co-purified with C7orf44 (the human ortholog of fungal COX assembly protein)
22356826 COX assembly candidate, ortholog of fungal YMR244C-A
22277967 Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
20877624 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MGPGGPLLSPSRGFLLCKTGWHSNRLLGDCGPHTPVSTALSFIAVGMAAPSMKERQVCWGARDEYWKCLD      1 - 70
ENLEDASQCKKLRSSFESSCPQQWIKYFDKRRDYLKFKEKFEAGQFEPSETTAKS                    71 - 125
//

Text Mined References (20)

PMID Year Title
26160915 2015 COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2.
25959673 2015 Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25339201 2015 Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.
24549041 2014 Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency.
22984289 2012 Intermembrane space proteome of yeast mitochondria.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22356826 2012 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.
22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
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