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    COX4I1 cytochrome c oxidase subunit 4I1 [ Homo sapiens (human) ]

    Gene ID: 1327, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The ratio of cytochrome c oxidase subunit 4 isoform 4I1 and 4I2 mRNA is changed in permanent atrial fibrillation.

    The ratio of cytochrome c oxidase subunit 4 isoform 4I1 and 4I2 mRNA is changed in permanent atrial fibrillation.
    Vogt S, Ramzan R, Cybulski P, Rhiel A, Weber P, Ruppert V, Irqsusi M, Rohrbach S, Niemann B, Mirow N, Rastan AJ., Free PMC Article

    08/12/2024
    Cytochrome c oxidase IV isoform 1 (COX4-1) regulates the proliferation, migration and invasion of trophoblast cells via modulating mitochondrial function.

    Cytochrome c oxidase IV isoform 1 (COX4-1) regulates the proliferation, migration and invasion of trophoblast cells via modulating mitochondrial function.
    Yu J, Duan Y, Lu Q, Chen M, Ning F, Ye Y, Lu S, Ou D, Sha X, Gan X, Zhao M, Lash GE.

    06/10/2024
    Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4-1 Deficiency.

    Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4-1 Deficiency.
    Douiev L, Miller C, Keller G, Benyamini H, Abu-Libdeh B, Saada A., Free PMC Article

    04/30/2022
    Upregulation of COX4-2 via HIF-1alpha in Mitochondrial COX4-1 Deficiency.

    Upregulation of COX4-2 via HIF-1α in Mitochondrial COX4-1 Deficiency.
    Douiev L, Miller C, Ruppo S, Benyamini H, Abu-Libdeh B, Saada A., Free PMC Article

    08/28/2021
    In case of myocardial insufficiency and dilated cardiomyopathy, decreased expression of COX 4 results in an impaired CytOx activity. Higher enzymatic activity but equal oxygen consumption contribute to the pathophysiology of the myocardial insufficiency and appears as an indicator of oxidative stress. This kind of dysregulation should be in the focus for the development of diagnostic and therapy procedures

    Myocardial insufficiency is related to reduced subunit 4 content of cytochrome c oxidase.
    Vogt S, Ruppert V, Pankuweit S, Paletta JPJ, Rhiel A, Weber P, Irqsusi M, Cybulski P, Ramzan R., Free PMC Article

    11/10/2018
    COX4I1 variant K101N was identified in a patient with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.

    Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.
    Abu-Libdeh B, Douiev L, Amro S, Shahrour M, Ta-Shma A, Miller C, Elpeleg O, Saada A., Free PMC Article

    12/16/2017
    This cohort study showed that the COX411 gene was down regulation between patients with idiopathic Parkinson disease and controls

    Analysis of blood-based gene expression in idiopathic Parkinson disease.
    Shamir R, Klein C, Amar D, Vollstedt EJ, Bonin M, Usenovic M, Wong YC, Maver A, Poths S, Safer H, Corvol JC, Lesage S, Lavi O, Deuschl G, Kuhlenbaeumer G, Pawlack H, Ulitsky I, Kasten M, Riess O, Brice A, Peterlin B, Krainc D., Free PMC Article

    10/28/2017
    We provide evidence that COX4-1 controls BMI1 expression via a redox mechanism

    Nuclear-encoded cytochrome c oxidase subunit 4 regulates BMI1 expression and determines proliferative capacity of high-grade gliomas.
    Oliva CR, Markert T, Gillespie GY, Griguer CE., Free PMC Article

    12/19/2015
    COXIV mRNA (1.6 fold; P<0.01) and COXIV protein expression (1.5 fold; P<0.05) were increased by training but COXIV protein expression was decreased (20%; P<0.01) by acute exercise pre- and post-training.

    Short-term intensified cycle training alters acute and chronic responses of PGC1α and Cytochrome C oxidase IV to exercise in human skeletal muscle.
    Stepto NK, Benziane B, Wadley GD, Chibalin AV, Canny BJ, Eynon N, McConell GK., Free PMC Article

    07/27/2013
    COX activity (electron transport complex IV) is reduced by 29% in maternal history of Alzheimer's disease compared to normal controls, and by 30% compared to paternal history of Alzheimer's disease.

    Reduced mitochondria cytochrome oxidase activity in adult children of mothers with Alzheimer's disease.
    Mosconi L, de Leon M, Murray J, E L, Lu J, Javier E, McHugh P, Swerdlow RH., Free PMC Article

    08/25/2012
    Studies suggest a model that links cell signaling with the phosphorylation state of Cytochrome c (Cytc) and cytochrome c oxidase (COX).

    Regulation of mitochondrial respiration and apoptosis through cell signaling: cytochrome c oxidase and cytochrome c in ischemia/reperfusion injury and inflammation.
    Hüttemann M, Helling S, Sanderson TH, Sinkler C, Samavati L, Mahapatra G, Varughese A, Lu G, Liu J, Ramzan R, Vogt S, Grossman LI, Doan JW, Marcus K, Lee I., Free PMC Article

    05/12/2012
    Studies suggest that the main function of nuclear encoded subunits of cytochrome c oxidase appears to be "only" to control the activity of the mitochondrial subunits.

    Cytochrome c oxidase: evolution of control via nuclear subunit addition.
    Pierron D, Wildman DE, Hüttemann M, Markondapatnaikuni GC, Aras S, Grossman LI., Free PMC Article

    05/12/2012
    Studies indicate that the mechanism for proton pumping in cytochrome c oxidase is based on an electrostatic analysis of a kinetic experiment for the O to E transition.

    The mechanism for proton pumping in cytochrome c oxidase from an electrostatic and quantum chemical perspective.
    Blomberg MR, Siegbahn PE.

    05/12/2012
    Studies indicate that nitric oxide (NO) inhibition of cytochrome c oxidase (CcOX) is rapid and reversible and may occur in competition with oxygen.

    Cytochrome c oxidase and nitric oxide in action: molecular mechanisms and pathophysiological implications.
    Sarti P, Forte E, Mastronicola D, Giuffrè A, Arese M.

    05/12/2012
    Studies indicate that the cytochrome oxidase enzyme-substrate (ES) Michaelis complex of cell respiration, the dioxygen adduct of heme a(3), which he termed Compound A.

    Active site intermediates in the reduction of O(2) by cytochrome oxidase, and their derivatives.
    Wikström M.

    05/12/2012
    Observational study of gene-disease association. (HuGE Navigator)

    Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article

    12/5/2010
    Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4

    Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b.
    Fornuskova D, Stiburek L, Wenchich L, Vinsova K, Hansikova H, Zeman J.

    07/26/2010
    Data found that subunits Cox6a, Cox6b and Cox7a assembled into pre-existing complex IV, while Cox4-1 and Cox6c subunits assembled into subcomplexes that may represent rate-limiting intermediates.

    Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria.
    Lazarou M, Smith SM, Thorburn DR, Ryan MT, McKenzie M.

    02/22/2010
    Under conditions of reduced oxygen availability, hypoxia-inducible factor 1 reciprocally regulates COX4 subunit expression by activating transcription of the genes encoding COX4-2 and LON, a mitochondrial protease that is required for COX4-1 degradation.

    HIF-1 regulates cytochrome oxidase subunits to optimize efficiency of respiration in hypoxic cells.
    Fukuda R, Zhang H, Kim JW, Shimoda L, Dang CV, Semenza GL.

    01/21/2010
    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

    Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1.
    Williams SL, Valnot I, Rustin P, Taanman JW.

    01/21/2010
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