COX6A1

Summary

Gene Symbol: COX6A1
Description: cytochrome c oxidase subunit 6A1
Alias: CMTRID, COX6A, COX6AL, cytochrome c oxidase subunit 6A1, mitochondrial, COX VIa-L, cytochrome C oxidase subunit VIa homolog, cytochrome c oxidase polypeptide VIa-liver, cytochrome c oxidase subunit VIA-liver, cytochrome c oxidase subunit VIa polypeptide 1
Species: human

Top Publications

  1. doi Mechanism of super-assembly of respiratory complexes III and IV
    Sara Cogliati
    Centro Nacional de Investigaciones Cardiovasculares Carlos III, 28029 Madrid, Spain
    Nature 539:579-582. 2016
  2. doi mRNA degradation: an underestimated factor in steady-state transcript levels of cytochrome c oxidase subunits?
    Katharina Bremer
    Department of Biology, Queen s University, Kingston, ON K7L 3N6, Canada
    J Exp Biol 217:2212-20. 2014
  3. pmc A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease
    Gen Tamiya
    Advanced Molecular Epidemiology Research Institute, Faculty of Medicine, Yamagata University, Yamagata 990 9585, Japan Electronic address
    Am J Hum Genet 95:294-300. 2014
  4. doi Comparison of PBDE congeners as inducers of oxidative stress in zebrafish
    Crystal Y Usenko
    Department of Biology, Baylor University, Waco, Texas, USA
    Environ Toxicol Chem 34:1154-60. 2015
  5. doi Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease
    Veronika Boczonadi
    Institute of Genetic Medicine, Wellcome Trust Mitochondrial Research Centre, Newcastle University, Central Parkway NE1 3BZ Newcastle upon Tyne, UK
    Int J Biochem Cell Biol 63:32-40. 2015
  6. pmc Transcriptome markers of viral persistence in naturally-infected andes virus (bunyaviridae) seropositive long-tailed pygmy rice rats
    Corey L Campbell
    Arthropod Borne and Infectious Diseases Laboratory, Department of Microbiology, Immunology and Pathology, Colorado State University, Fort Collins, Colorado, United States of America
    PLoS ONE 10:e0122935. 2015
  7. doi ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease
    Celeste Montecchiani
    1 Laboratorio di Neurogenetica, CERC IRCCS Santa Lucia, Rome, Italy
    Brain 139:73-85. 2016
  8. doi The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits
    Jana Cesnekova
    Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic
    Biochem J 473:797-804. 2016
  9. pmc Iron Deficiency Impairs Developing Hippocampal Neuron Gene Expression, Energy Metabolism, and Dendrite Complexity
    Thomas W Bastian
    Department of Pediatrics and Center for Neurobehavioral Development, School of Medicine, Minneapolis, Minn, USA
    Dev Neurosci 38:264-276. 2016
  10. ncbi Functional analysis of the rat cytochrome c oxidase subunit 6A1 promoter in primary neurons
    Sakkapol Ongwijitwat
    Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA
    Gene 337:163-71. 2004

Research Grants

  1. METABOLIC ORGANIZATION & REGULATION IN THE VISUAL CORTEX
    Margaret Wong Riley; Fiscal Year: 2002
  2. Neurochemical Organization of Brain Stem Respiratory Nuclei
    MARGARET TT WONG RILEY; Fiscal Year: 2010

Scientific Experts

  • Gen Tamiya
  • Katharina Bremer
  • M Wong-Riley
  • MARGARET TT WONG RILEY
  • Margaret Wong Riley
  • Hana Hansikova
  • Jiri Zeman
  • Sara Cogliati
  • Jana Cesnekova
  • Celeste Montecchiani
  • Thomas W Bastian
  • Veronika Boczonadi
  • Corey L Campbell
  • Crystal Y Usenko
  • Lukas Stiburek
  • Caroline Jacques
  • Alzbeta Vondrácková
  • H Lecoeur
  • Manabu Isoda
  • Jianghua Lu
  • Daniela Fornuskova
  • E Amin
  • Zong Yun Tsai
  • A G Little
  • Michael Lazarou
  • Linhui Hao
  • Bindu Ramachandran
  • So Young Eun
  • Sakkapol Ongwijitwat
  • Jesus Vazquez
  • Marie Rodinova
  • Temistocle Lo Giudice
  • Lucia Pedace
  • Michael K Georgieff
  • Marzia Mearini
  • Roberto Massa
  • Lorene M Lanier
  • Nadia Mercader
  • William C von Hohenberg
  • José L Pedroso
  • Antonio Orlacchio
  • Carolina Garcia-Poyatos
  • Iakes Ezkurdia
  • Marta Loureiro
  • Fabrizio Gaudiello
  • Chiara Terracciano
  • Jose Antonio Enriquez
  • Adela M Guaras
  • Antonella Casella
  • Daniel J Mickelson
  • Carlo Caltagirone
  • Orlando G P Barsottini
  • Enrique Calvo
  • Toshitaka Kawarai
  • Rocío Nieto-Arellano
  • Josef Houstek
  • Peter H St George-Hyslop
  • Ulrike Schara
  • Erica D Bruce
  • Fernando Torres-Pérez
  • Maria Lane
  • Molly Kudela
  • Annie Janise
  • Rita Horvath
  • Mariana Acuna-Retamar
  • Michele Giunta
  • Mar Tulinius
  • Erika L Abel
  • Tony Schountz
  • Delphine Guillotin
  • Audrey Fleury
  • Yves Malthiery
  • Jean Fred Fontaine
  • Frederique Savagner
  • Brigitte Franc
  • Delphine Mirebeau-Prunier
  • J P Briand
  • C Pechoux
  • Dagmar Zajicova Docekalova
  • R El-Khoury
  • P Rustin
  • M Porceddu
  • E Jacotot
  • N Buron
  • A Borgne-Sanchez
  • J J Brière
  • S Muller
  • M Brabant
  • Eva Rozsypalova
  • D Rebouillat

Detail Information

Publications33

  1. doi Mechanism of super-assembly of respiratory complexes III and IV
    Sara Cogliati
    Centro Nacional de Investigaciones Cardiovasculares Carlos III, 28029 Madrid, Spain
    Nature 539:579-582. 2016
    ..Furthermore, we find that the CIV subunit COX7A2 is replaced by SCAF1 in supercomplexes containing CIII and CIV and by COX7A1 in CIV dimers, and that dimers seem to be more stable when they include COX6A2 rather than the COX6A1 isoform.
  2. doi mRNA degradation: an underestimated factor in steady-state transcript levels of cytochrome c oxidase subunits?
    Katharina Bremer
    Department of Biology, Queen s University, Kingston, ON K7L 3N6, Canada
    J Exp Biol 217:2212-20. 2014
    ..not explain the patterns seen with another subunit that did not change in mRNA level with thermal acclimation (COX6A-2)...
  3. pmc A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease
    Gen Tamiya
    Advanced Molecular Epidemiology Research Institute, Faculty of Medicine, Yamagata University, Yamagata 990 9585, Japan Electronic address
    Am J Hum Genet 95:294-300. 2014
    ..in a splicing element (pyrimidine tract) of intron 2 adjacent to the third exon of cytochrome c oxidase subunit VIa polypeptide 1 (COX6A1), which is a component of mitochondrial respiratory complex IV (cytochrome c oxidase [..
  4. doi Comparison of PBDE congeners as inducers of oxidative stress in zebrafish
    Crystal Y Usenko
    Department of Biology, Baylor University, Waco, Texas, USA
    Environ Toxicol Chem 34:1154-60. 2015
    ..At 24 hpf, cytochrome c oxidase subunit 6a (COX6a) transcription was up-regulated in embryos exposed to BDE 99, and BDE 28 exposure up-regulated the transcription ..
  5. doi Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease
    Veronika Boczonadi
    Institute of Genetic Medicine, Wellcome Trust Mitochondrial Research Centre, Newcastle University, Central Parkway NE1 3BZ Newcastle upon Tyne, UK
    Int J Biochem Cell Biol 63:32-40. 2015
    ..Isoforms of subunits COX6A and COX7A expressed in heart and skeletal muscle are different from isoforms expressed in the liver, kidney and ..
  6. pmc Transcriptome markers of viral persistence in naturally-infected andes virus (bunyaviridae) seropositive long-tailed pygmy rice rats
    Corey L Campbell
    Arthropod Borne and Infectious Diseases Laboratory, Department of Microbiology, Immunology and Pathology, Colorado State University, Fort Collins, Colorado, United States of America
    PLoS ONE 10:e0122935. 2015
    ..In the remaining acutely infected rice rat, the apoptotic pathway marker Cox6a1 was elevated, and putative anti-viral factors Abcb1a, Fam46c, Spp1, Rxra, Rxrb, Trmp2 and Trim58 were modulated...
  7. doi ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease
    Celeste Montecchiani
    1 Laboratorio di Neurogenetica, CERC IRCCS Santa Lucia, Rome, Italy
    Brain 139:73-85. 2016
    ..CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with ..
  8. doi The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits
    Jana Cesnekova
    Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic
    Biochem J 473:797-804. 2016
    ..that LACE1 mediates degradation of nuclear-encoded complex IV subunits COX4 (cytochrome c oxidase 4), COX5A and COX6A, and is required for normal activity of complexes III and IV of the respiratory chain...
  9. pmc Iron Deficiency Impairs Developing Hippocampal Neuron Gene Expression, Energy Metabolism, and Dendrite Complexity
    Thomas W Bastian
    Department of Pediatrics and Center for Neurobehavioral Development, School of Medicine, Minneapolis, Minn, USA
    Dev Neurosci 38:264-276. 2016
    ..e. BdnfVI,Camk2a,Vamp1,Psd95,Cfl1, Pfn1,Pfn2, and Gda) and mitochondrial function (i.e. Ucp2,Pink1, and Cox6a1)...
  10. ncbi Functional analysis of the rat cytochrome c oxidase subunit 6A1 promoter in primary neurons
    Sakkapol Ongwijitwat
    Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA
    Gene 337:163-71. 2004
    ..In vivo binding of NRF-2 to the rCOX6A1 promoter was confirmed with chromatin immunoprecipitation assay (ChIP). We conclude that Sp1, NRF-1, and NRF-2 are important in activating transcription of the rat COX6A1 gene.
  11. doi DNA microarray and miRNA analyses reinforce the classification of follicular thyroid tumors
    Caroline Jacques
    Institut National de la Santé et de la Recherche Médicale U694, rue des Capucins, F 49033 Angers, France
    J Clin Endocrinol Metab 98:E981-9. 2013
    ..Focusing on mitochondrial function and thyroid tumorigenesis, we used an integrative approach to identify relevant biomarkers for borderline thyroid lesions...
  12. doi High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency
    Alzbeta Vondrácková
    Department of Pediatrics and Adolescent Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic
    J Hum Genet 57:442-8. 2012
    ..Nine novel variants were identified in exons and adjacent intronic regions of COX4I2, COX6A1, COX6A2, COX7A1, COX7A2 and COX10 using high-resolution melting (HRM) analysis...
  13. pmc HIV-1 Tat protein directly induces mitochondrial membrane permeabilization and inactivates cytochrome c oxidase
    H Lecoeur
    THERAPTOSIS SA, Pasteur BioTop Research Laboratory, Institut Pasteur, Paris, France
    Cell Death Dis 3:e282. 2012
    ....
  14. doi Evolution of the nuclear-encoded cytochrome oxidase subunits in vertebrates
    A G Little
    Department of Biology, Queen s University, Kingston, Canada
    Physiol Genomics 42:76-84. 2010
    ..were identical throughout the major vertebrate taxa: no paralogs of COX6c and COX7c, two paralogs of COX4 and COX6a, and three paralogs of COX7a...
  15. pmc Selective lamina dysregulation in granular retrosplenial cortex (area 29) after anterior thalamic lesions: an in situ hybridization and trans-neuronal tracing study in rats
    E Amin
    School of Psychology, Cardiff University, Wales CF10 3AT, UK
    Neuroscience 169:1255-67. 2010
    ..Three other markers (cox6a1, CD74, ncs-1) did not appear to change activity levels after surgery...
  16. pmc Polymorphic variation in cytochrome oxidase subunit genes
    Jianghua Lu
    Department of Neurology, University of Kansas School of Medicine, Kansas City, KS 66160, USA
    J Alzheimers Dis 21:141-54. 2010
    ..Frequent untranslated region (UTR) polymorphisms were seen in COX6A1, COX6B1, COX6C, and COX7A1; heterogeneity in a COX7A1 5' UTR Sp1 site was extensive...
  17. doi Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b
    Daniela Fornuskova
    Department of Pediatrics, First Faculty of Medicine, Charles University in Prague, Ke Karlovu 2, Prague 2, 12808 Czech Republic
    Biochem J 428:363-74. 2010
    ..CcO subunits in the assembly and function of the human complex, we used stable RNA interference of COX4, COX5A and COX6A1, as well as expression of epitope-tagged Cox6a, Cox7a and Cox7b, in HEK (human embryonic kidney)-293 cells...
  18. ncbi Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase
    G M Fabrizi
    H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disorders, Columbia University College of Physicians and Surgeons, New York, NY 10032
    Gene 119:307-12. 1992
    ..The cDNA specifying COX VIa-M is a prime candidate for use in investigations of Mendelian-inherited COX deficiencies with primary involvement of muscle...
  19. doi Identification of microRNAs regulated by activin A in human embryonic stem cells
    Zong Yun Tsai
    Department of Medicinal and Applied Chemistry, College of Life Sciences, Kaohsiung Medical University, Kaohsiung 807, Taiwan
    J Cell Biochem 109:93-102. 2010
    ..Thirteen abundantly differentially expressed mRNAs, including NR4A2, ERBB4, CXCR4, PCDH9, TMEFF2, CD24, and COX6A1 genes, targeted by seven over-expressed miRNAs were identified by inverse expression levels of these seven ..
  20. doi Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria
    Michael Lazarou
    Department of Biochemistry, La Trobe University, Melbourne, Australia
    FEBS J 276:6701-13. 2009
    ..Using in vitro import and assembly assays, we found that subunits Cox6a, Cox6b and Cox7a assembled into pre-existing complex IV, while Cox4-1 and Cox6c subunits assembled into ..
  21. doi Expression of the peptide hormone hepcidin increases in cardiomyocytes under myocarditis and myocardial infarction
    Manabu Isoda
    Department of Thoracic and Cardiovascular Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
    J Nutr Biochem 21:749-56. 2010
    ..Analysis of the time course of the hepcidin to cytochrome oxidase subunit 6a (Cox6a)2 expression ratio showed that it abruptly increased more than 100-fold in hearts in the very early phase of EAM ..
  22. pmc Drosophila RNAi screen identifies host genes important for influenza virus replication
    Linhui Hao
    Institute for Molecular Virology, USA
    Nature 454:890-3. 2008
    ..genes identified; that is, for three implicated Drosophila genes, the corresponding human homologues ATP6V0D1, COX6A1 and NXF1 are shown to have key functions in the replication of H5N1 and H1N1 influenza A viruses, but not ..
  23. doi Identification of cytochrome c oxidase subunit 6A1 as a suppressor of Bax-induced cell death by yeast-based functional screening
    So Young Eun
    Department of Pharmacology, Gyeongsang Institute of Health Science, Gyeongsang National University School of Medicine, 92 Chilam dong, Jinju 660 751, Republic of Korea
    Biochem Biophys Res Commun 373:58-63. 2008
    Human cytochrome c oxidase subunit VIa polypeptide 1 (COX6A1) was identified as a novel suppressor of Bcl-2-associated X protein (Bax)-mediated cell death using yeast-based functional screening of a mammalian cDNA library...
  24. pmc Nuclear respiratory factor 1 controls myocyte enhancer factor 2A transcription to provide a mechanism for coordinate expression of respiratory chain subunits
    Bindu Ramachandran
    Diabetes Research Laboratory, Department of Medicine, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
    J Biol Chem 283:11935-46. 2008
    ..We used genome comparisons to conclude that the promoter regions of COX6A(H) and COX7A(H) lack NRF sites but have conserved myocyte enhancer factor 2 (MEF2) elements...
  25. ncbi Human COX6A1 gene: promoter analysis, cDNA isolation and expression in the monkey brain
    M Wong-Riley
    Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA
    Gene 247:63-75. 2000
    The human COX6A1 gene encodes the ubiquitous isoform of cytochrome c oxidase (COX) subunit VIa (VIa-L), and is located in a CpG island on chromosome 12q24.2...
  26. ncbi Assignment of COX6A1 to 6p21 and a pseudogene (COX6A1P) to 1p31.1 by in situ hybridization and somatic cell hybrids
    Y Hey
    CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK
    Cytogenet Cell Genet 77:167-8. 1997
  27. ncbi Cloning, characterization, and chromosomal localization of human liver form cytochrome c oxidase subunit VIa related genes
    F Merante
    Centre for Cardiovascular Research, Toronto Hospital, ON, Canada
    Genome 40:325-31. 1997
    ..In total, four COX VIa-L related sequences have been cloned and their nucleotide sequences analyzed. At least three of the sequences represent pseudogenes; their relatedness to the COX VIa-L cDNA is discussed...
  28. ncbi Molecular evolution of cytochrome c oxidase: rate variation among subunit VIa isoforms
    T R Schmidt
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan 48201, USA
    Mol Biol Evol 14:595-601. 1997
    ..acid replacement) substitutions in the COX6AH gene occurred more frequently than in the ubiquitously expressed COX6AL gene...
  29. ncbi Tissue distribution of cytochrome c oxidase isoforms in mammals. Characterization with monoclonal and polyclonal antibodies
    J W Taanman
    Institute of Molecular Biology, University of Oregon, Eugene 97403
    Biochim Biophys Acta 1225:95-100. 1993
    ..These results imply that, in humans, the deficiency of a subunit VIa isoform may have a different effect on the physiology of heart then on the physiology of skeletal muscle...
  30. ncbi Cloning, sequence analysis, and expression of a mouse cDNA encoding cytochrome c oxidase subunit VIa liver isoform
    L I Grossman
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201
    Biochim Biophys Acta 1260:361-4. 1995
    A cDNA encoding cytochrome c oxidase (COX) subunit VIa liver isoform (COX6aL) was isolated from a Mus musculus library and sequenced...
  31. ncbi Structural organization of the bovine gene for the heart/muscle isoform of cytochrome c oxidase subunit VIa
    E O Smith
    Department of Anatomy and Cell Biology, University of Michigan, Ann Arbor 48109 0616
    Biochim Biophys Acta 1174:63-71. 1993
    The bovine gene for the nuclear-encoded heart/muscle isoform of cytochrome c oxidase subunit VIa (COX6A1) was isolated from a library of bovine genomic DNA in lambda EMBL3 and sequenced...
  32. pmc Sequence of a cDNA specifying subunit VIa of human cytochrome c oxidase
    G M Fabrizi
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032
    Nucleic Acids Res 17:6409. 1989

Research Grants2

  1. METABOLIC ORGANIZATION & REGULATION IN THE VISUAL CORTEX
    Margaret Wong Riley; Fiscal Year: 2002
    ..Results from these studies are expected to provide insight into the molecular basis of metabolic responses of visual cortical neurons to changing functional demands. ..
  2. Neurochemical Organization of Brain Stem Respiratory Nuclei
    MARGARET TT WONG RILEY; Fiscal Year: 2010
    ....