Property Summary

NCBI Gene PubMed Count 1
Grant Count 101
R01 Count 63
Funding $21,420,471.68
PubMed Score 2347.86
PubTator Score 685.61

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P00414 Q14Y83
Symbols COIII
MTCO3

Gene

PANTHER Protein Class (2)

Gene RIF (16)

PMID Text
25701779 novel heteroplasmic mutation m.9276G>C in the mitochondrial COIII gene, detected in mtDNA extracted from leukocytes of a mother and her two daughters indicating that this mutation is maternally transmitted
25588698 Lack of Cox3 limits the biosynthesis of COX but does not alter the structure of the enzyme.
25483779 this is the first study showing to demonstrate that aa72-117 in HBx is the key region for binding with COXIII.
24550096 A novel COIII gene m.9588G>A mutation was found in the mtDNA sperm's in all asthenozoospermic patients and was absent in the normozoospermic and in fertile men.
23645088 A novel heteroplasmic missense mitochondrial mutation (m.9387 G>A) in COXIII gene found in 3 asthenospermic patients from Tunisia.
22419111 Tat-induced mitochondrial membrane permeabilization is associated with inhibition of cytochrome c oxidase (COX) activity by Tat in disrupted mitochondria from human samples
21163656 A novel COX III subunit single base pair deletion is associated with a high number (45%) of COX-negative muscle fibers in a patient with severe rhabdomyolysis but no family history of neuromuscular disorder.
20525945 a novel heteroplasmic missense mitochondrial mutation at nucleotide 9478 in COX3 gene in patients with Leigh syndrome
20085441 The total mtDNA major arc deletion level was greater than the common deletion level in COX 3-deficient spiral ganglion cells.
19758471 Observational study of gene-disease association. (HuGE Navigator)
More...

AA Sequence

MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGH      1 - 70
HTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLAS     71 - 140
GVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVII    141 - 210
GSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS                       211 - 261
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Text Mined References (10)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25483779 2015 Accurately mapping the location of the binding site for the interaction between hepatitis B virus X protein and cytochrome c oxidase III.
18587274 2008 A MELAS syndrome family harboring two mutations in mitochondrial genome.
16776823 2006 In situ origin of deep rooting lineages of mitochondrial Macrohaplogroup 'M' in India.
9461455 1998 Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome.
8630495 1996 A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria.
8240356 1993 Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.
7496173 1995 A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene.
7219534 1981 Sequence and organization of the human mitochondrial genome.
1757091 1991 Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.