Property Summary

NCBI Gene PubMed Count 1
PubMed Score 4179.71
PubTator Score 3501.07

Knowledge Summary

Patent

No data available

Expression

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.
21621438 the possible role of m.7445 A>G in susceptibility to aminoglycoside induced-hearing loss
21389643 Data show that homoplasmic G6709A (MT-CO1) and G14804A (MT-CYB) alterations cause amino acid changes in the highly conserved residues.
20382059 Screening of a Greek deafness population for the A7445G mitochondrial DNA COI mutation.
19758471 Observational study of gene-disease association. (HuGE Navigator)
19570036 Trx2 overexpression modulates the mRNA levels of the COX1 (cytochrome oxidase subunit I) and Cytb (cytochrome b), which are known to be regulated by GR and NF-kappaB.
19267350 the presence of one or more COI missense variants was not significantly associated with prostate cancer in African Americans
19147801 Observational study of gene-disease association. (HuGE Navigator)
19050702 Observational study of gene-disease association. (HuGE Navigator)
18718066 3 single nucleotide changes in 528 bp cytochrome oxidase gene fragment from 18 myelodysplastic syndrome patients were confirmed.
18484665 MT-CO1 has a role in moderate mental retardation and a mild exercise intolerance [case report]
18251004 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
18204294 Cox-1 is expressed with a wide variety of levels and up-regulated significantly in endometrial cancer at the mRNA and protein levels, and may have an important role in tumor development in endometrial canceer.
17357124 Observational study of genotype prevalence. (HuGE Navigator)
17341490 Functional effects of nonsense mitochondrial DNA (mtDNA) mutations in the COXI and ND5 genes in a colorectal tumor cell line.
16740593 Respiration dysfunction in cell with a mutation in COX I can be complementated by cell fusion with another cell carrying a mutation in cytochrome b.
16671096 A missense mutation within the mitochondrial cytochrome c oxidase I gene is associated with cancer.
15931342 Observational study of genetic testing. (HuGE Navigator)
15308583 Observational study of gene-disease association. (HuGE Navigator)
15036329 High percentage of a 24.2 kb duplicated molecule was found in lymphocytes whereas the corresponding deletion dimer dominated in muscle.
14759509 The expression of COX I subunits (I and III)was studied in blood platelets during aging.
14607829 study points to a role for surfeit 1(SURF1) in promoting the association of cytochrome c oxidase II with the cytochrome c oxidase I.cytochrome c oxidase subunit 4.cytochrome c oxidase subunit 5A subassembly
12140182 C6489A missense mutation in the mitochondrial DNA (mtDNA) CO I gene encoding the cytochrome c oxidase (COX) subunit I in a 17-year-old girl with epilepsia partialis continua
11849212 Observational study of gene-disease association. (HuGE Navigator)
11345519 Observational study of gene-disease association. (HuGE Navigator)

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.
11130070 2000 Mitochondrial genome variation and the origin of modern humans.
10980727 2000 Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.
10577941 1999 Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.
9851701 1998 MtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase.
9389715 1997 Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia.
7530363 1995 Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs.
7219534 1981 Sequence and organization of the human mitochondrial genome.
6260957 1980 Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing.
1757091 1991 Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.
1322638 1992 A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I.