NDUFS6

Summary

Gene Symbol: NDUFS6
Description: NADH:ubiquinone oxidoreductase subunit S6
Alias: CI-13kA, CI-13kD-A, CI13KDA, NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial, NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase), NADH-ubiquinone oxidoreductase 13 kDa-A subunit, NADH:ubiquinone oxidoreductase NDUFS6 subunit, complex I 13kDa subunit A, complex I, mitochondrial respiratory chain, 13-kD subunit
Species: human

Top Publications

  1. ncbi CD147 interacts with NDUFS6 in regulating mitochondrial complex I activity and the mitochondrial apoptotic pathway in human malignant melanoma cells
    Z Luo
    X Chen Department of Dermatology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan 410008, China
    Curr Mol Med 14:1252-64. 2014
  2. pmc Accessory NUMM (NDUFS6) subunit harbors a Zn-binding site and is essential for biogenesis of mitochondrial complex I
    Katarzyna Kmita
    Structural Bioenergetics Group, Institute of Biochemistry II, Medical School, Goethe University, 60438 Frankfurt am Main, Germany
    Proc Natl Acad Sci U S A 112:5685-90. 2015
  3. pmc Proteome Analysis of Renoprotection Mediated by a Novel Cyclic Helix B Peptide in Acute Kidney Injury
    Cheng Yang
    Department of Urology, Zhongshan Hospital, Fudan University, Shanghai, 200032, China
    Sci Rep 5:18045. 2015
  4. doi The origin of the supernumerary subunits and assembly factors of complex I: A treasure trove of pathway evolution
    Dei M Elurbe
    Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Center, Nijmegen, The Netherlands
    Biochim Biophys Acta 1857:971-9. 2016
  5. pmc Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy
    Bi xia Ke
    Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, VIC 3052, Australia
    Proc Natl Acad Sci U S A 109:6165-70. 2012
  6. doi Deficiency in mitochondrial complex I activity due to Ndufs6 gene trap insertion induces renal disease
    Josephine M Forbes
    Glycation, Nutrition and Metabolism Laboratory, Baker IDI Heart and Diabetes Institute, Melbourne, Australia
    Antioxid Redox Signal 19:331-43. 2013
  7. pmc Novel insights into the role of Neurospora crassa NDUFAF2, an evolutionarily conserved mitochondrial complex I assembly factor
    Bruno Pereira
    Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal
    Mol Cell Biol 33:2623-34. 2013
  8. ncbi cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed
    J Loeffen
    Nijmegen Center for Mitochondrial Disorders, University Children s Hospital Nijmegen, The Netherlands
    Biochem Biophys Res Commun 247:751-8. 1998
  9. ncbi Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain
    T Emahazion
    Medical Genetics Unit, Department of Genetics and Pathology, Biomedical Center, Uppsala University, Uppsala, Sweden
    Cytogenet Cell Genet 82:115-9. 1998
  10. pmc NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency
    Denise M Kirby
    Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Victoria, Australia
    J Clin Invest 114:837-45. 2004

Scientific Experts

  • X Chen
  • Ronen Spiegel
  • Luigi Scotto
  • David R Thorburn
  • Bi xia Ke
  • Michael Lazarou
  • Michael T Ryan
  • Dei M Elurbe
  • Katarzyna Kmita
  • Cheng Yang
  • Z Luo
  • Josephine M Forbes
  • Bruno Pereira
  • Adrienne Laskowski
  • Akira Ohtake
  • Miguel A Martin
  • Denise M Kirby
  • Martijn A Huynen
  • Xiaohui Liu
  • Volker Zickermann
  • Ruiming Rong
  • Gerhard Hummer
  • Junjun Liu
  • Long Li
  • Klaus Zwicker
  • Shangfeng Liu
  • Ville R I Kaila
  • Carola Hunte
  • Judith Warnau
  • Meiyu Hu
  • Xiao Huang
  • Yaqiu Long
  • Tongyu Zhu
  • Shouliang Zhao
  • Ulrich Brandt
  • Christophe Wirth
  • Sergio Guerrero-Castillo
  • X Xie
  • J Zhang
  • M Chen
  • T Long
  • W Tang
  • W Zeng
  • Y Kuang
  • J Su
  • Darren C Henstridge
  • Tuong Vi Nguyen
  • Mark E Cooper
  • Arnaldo Videira
  • Margarida Duarte
  • Karly C Sourris
  • Sally A Penfold
  • Lukas N Groschner
  • Melinda T Coughlan
  • David R Grubb
  • Salvatore Pepe
  • Jasper C Komen
  • Michael M H Cheung
  • James J Pitt
  • Belinda M Hardman
  • Joseph J Smolich
  • Felicity A Rodda
  • Jane Koleff
  • Matthew McKenzie
  • T Emahazion
  • J Loeffen
  • Antoni L Andreu
  • Yolanda Campos
  • Daniel Fernandez-Moreira
  • Joaquin Arenas
  • Alberto Blazquez
  • Rafael Garesse
  • Luis G Gutierrez-Solana
  • Paz Briones
  • Lee Parry
  • Renato Salemi
  • Robert W Taylor
  • Hans Henrik M Dahl
  • Katrina M Bell
  • Avihu Boneh
  • Edwin P Kirk
  • Canny Sugiana
  • R Smeets
  • R Triepels
  • R Sengers
  • L van den Heuvel
  • F Trijbels
  • J Smeitink
  • U Gyllensten
  • A J Brookes

Detail Information

Publications14

  1. ncbi CD147 interacts with NDUFS6 in regulating mitochondrial complex I activity and the mitochondrial apoptotic pathway in human malignant melanoma cells
    Z Luo
    X Chen Department of Dermatology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan 410008, China
    Curr Mol Med 14:1252-64. 2014
    ..The yeast two-hybrid (Y2H) assay identified NDUFS6 (which encodes a subunit of mitochondrial respiratory chain complex I) as a candidate that interacts with CD147 ..
  2. pmc Accessory NUMM (NDUFS6) subunit harbors a Zn-binding site and is essential for biogenesis of mitochondrial complex I
    Katarzyna Kmita
    Structural Bioenergetics Group, Institute of Biochemistry II, Medical School, Goethe University, 60438 Frankfurt am Main, Germany
    Proc Natl Acad Sci U S A 112:5685-90. 2015
    ..We show that the accessory NUMM subunit of complex I (human NDUFS6) harbors a Zn-binding site and resolve its position by X-ray crystallography...
  3. pmc Proteome Analysis of Renoprotection Mediated by a Novel Cyclic Helix B Peptide in Acute Kidney Injury
    Cheng Yang
    Department of Urology, Zhongshan Hospital, Fudan University, Shanghai, 200032, China
    Sci Rep 5:18045. 2015
    ..DEPs in the oxidative phosphorylation pathway elicited by CHBP are NADH-ubiquinone oxidoreductase Fe-S protein 6 (NDUFS6), alpha-aminoadipic semialdehyde synthase (AASS) and ATP-binding cassette sub-family D member 3 (ABCD3)...
  4. doi The origin of the supernumerary subunits and assembly factors of complex I: A treasure trove of pathway evolution
    Dei M Elurbe
    Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Center, Nijmegen, The Netherlands
    Biochim Biophys Acta 1857:971-9. 2016
    ..case in which a complex I protein itself appears to have been the source of a new protein from another complex: NDUFS6 gave rise to cytochrome c oxidase subunit COX4/COX5b...
  5. pmc Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy
    Bi xia Ke
    Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, VIC 3052, Australia
    Proc Natl Acad Sci U S A 109:6165-70. 2012
    ..In humans, mutations in the NDUFS6 gene, encoding a CI subunit, cause severe CI deficiency and neonatal death...
  6. doi Deficiency in mitochondrial complex I activity due to Ndufs6 gene trap insertion induces renal disease
    Josephine M Forbes
    Glycation, Nutrition and Metabolism Laboratory, Baker IDI Heart and Diabetes Institute, Melbourne, Australia
    Antioxid Redox Signal 19:331-43. 2013
    ..To determine whether an abnormality in mitochondrial complex I per se is associated with development of renal disease, mice with a knockdown of the complex I gene, Ndufs6 were studied.
  7. pmc Novel insights into the role of Neurospora crassa NDUFAF2, an evolutionarily conserved mitochondrial complex I assembly factor
    Bruno Pereira
    Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal
    Mol Cell Biol 33:2623-34. 2013
    ..4 (NDUFA12), 18.4 (NDUFS6), and 21 (NDUFS4) kDa. Our results demonstrate that the 13...
  8. ncbi cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed
    J Loeffen
    Nijmegen Center for Mitochondrial Disorders, University Children s Hospital Nijmegen, The Netherlands
    Biochem Biophys Res Commun 247:751-8. 1998
    ..human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits...
  9. ncbi Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain
    T Emahazion
    Medical Genetics Unit, Department of Genetics and Pathology, Biomedical Center, Uppsala University, Uppsala, Sweden
    Cytogenet Cell Genet 82:115-9. 1998
    ..Radiation hybrid mapping of these PCRs located 15 complex I genes to chromosomes l, 4, 5 (2 genes), 7 (2 genes), 8, 9 (2 genes), 11, 14, 16 (2 genes), 18, and 19...
  10. pmc NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency
    Denise M Kirby
    Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Victoria, Australia
    J Clin Invest 114:837-45. 2004
    ..b>NDUFS6, a complex I subunit gene not previously associated with complex I deficiency, was grossly underexpressed in the 2 ..
  11. ncbi Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene
    Miguel A Martin
    Centro de Investigacion, Hospital Universitario 12 de Octubre, Madrid, Spain
    Arch Neurol 62:659-61. 2005
    ..Mutations in the nuclear-encoded subunits of complex I of the mitochondrial respiratory chain are a recognized cause of Leigh syndrome (LS). Recently, 6 mutations in the NDUFS1 gene were identified in 3 families...
  12. pmc Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I
    Michael Lazarou
    Department of Biochemistry, La Trobe University, Melbourne, Australia
    Mol Cell Biol 27:4228-37. 2007
    ..Subunit exchange may also act as an efficient mechanism to prevent the accumulation of oxidatively damaged subunits that would otherwise be detrimental to mitochondrial oxidative phosphorylation and have the potential to cause disease...
  13. pmc Integrative genomics analysis of chromosome 5p gain in cervical cancer reveals target over-expressed genes, including Drosha
    Luigi Scotto
    Department of Pathology, Columbia University Medical Center, New York, New York, USA
    Mol Cancer 7:58. 2008
    ..These changes may possess oncogenic properties by deregulating tumor-related genes. Gain of short arm of chromosome 5 (5p) is the most frequent karyotypic change in CC...
  14. pmc Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews
    Ronen Spiegel
    Genetic Institute, Ha Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel
    Eur J Hum Genet 17:1200-3. 2009
    ..6 Mb region of identical haplotype in the affected babies. Sequence analysis of the nuclear gene encoding for the NDUFS6 mitochondrial complex I subunit located within this region identified the c...