Property Summary

NCBI Gene PubMed Count 1
Grant Count 1,181
R01 Count 599
Funding $178,751,305.56
PubMed Score 4179.71
PubTator Score 3501.07

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P00395 Q34770
Symbols COI
MTCO1

Gene

PANTHER Protein Class (2)

Gene RIF (34)

PMID Text
26225554 patients with primary ovarian insufficiency exhibit an increased incidence of mitochondrial cytochrome c oxidase 1 gene mutations;MT-CO1 gene mutation may be causal in the disease
25701779 The m.9267G>C MT-COIII mutation was present with a nonsynonymous inherited mitochondrial homoplasmic variation MT-COI m.5913 G>A.
25663696 studies have provided mechanistic insights into crosstalk between assembly intermediates, import processes and the synthesis of COX subunits in mitochondria, thus linking conceptually separated functions.
24956508 A novel heteroplasmic mutation was identified in MTCO1, m.7402delC, causing frameshift and a premature termination codon in a mitochondrial encephalomyopathy patient with cytochrome c oxidase deficiency.
23712756 A novel m.6307A>G mutation in the mitochondrial COXI gene in asthenozoospermic infertile men.
23509693 mitochondrial DNA mutations in COI resulting in increased reactive oxygen and reactive nitrogen generation may be involved in prostate cancer biology
23030649 Possible association of a novel missense mutation A6375G in the mitochondrial cytochrome C oxidase I gene with asthenospermia in the Tunisian population
22927926 Abeta 1-42 bound to a peptide comprising the amino-terminal region of cytochrome c oxidase subunit 1
22419111 Tat-induced mitochondrial membrane permeabilization is associated with inhibition of cytochrome c oxidase (COX) activity by Tat in disrupted mitochondria from human samples
22252130 Both full-length and truncated COX1 proteins physically interact with AFG3L2.
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AA Sequence

MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMV      1 - 70
MPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPG     71 - 140
ASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLL    141 - 210
TDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSI    211 - 280
GFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTV    281 - 350
GGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIG    351 - 420
VNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSM    421 - 490
NLEWLYGCPPPYHTFEEPVYMKS                                                   491 - 513
//

Text Mined References (20)

PMID Year Title
26321642 2015 MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint during Cytochrome c Oxidase Assembly.
26225554 2015 Increased Incidence of Mitochondrial Cytochrome C Oxidase 1 Gene Mutations in Patients with Primary Ovarian Insufficiency.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
19218458 2009 A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.
16407113 2006 Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.
16284789 2006 Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.
14760490 2004 Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.
12949126 2003 Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J.
12840039 2003 Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines.
12140182 2002 Metabolic consequences of a novel missense mutation of the mtDNA CO I gene.
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