ACSF3

Summary

Gene Symbol: ACSF3
Description: acyl-CoA synthetase family member 3
Alias: acyl-CoA synthetase family member 3, mitochondrial, malonyl-CoA synthetase
Species: human

Top Publications

  1. pmc Malonyl-CoA synthetase, encoded by ACYL ACTIVATING ENZYME13, is essential for growth and development of Arabidopsis
    Hui Chen
    Institute of Biological Chemistry, Washington State University, Pullman, Washington 99164 6340
    Plant Cell 23:2247-62. 2011
  2. doi Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism
    Mihaela Pupavac
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada
    Mol Genet Metab 117:363-8. 2016
  3. pmc A New Approach for Fast Metabolic Diagnostics in CMAMMA
    Monique G M de Sain-van der Velden
    Department of Medical Genetics, UMC Utrecht, 85090, 3508AB, Utrecht, The Netherlands
    JIMD Rep 30:15-22. 2016
  4. pmc A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin
    Anne M Molloy
    Department of Clinical Medicine, School of Medicine, Trinity College Dublin, The University of Dublin, Dublin 2, Ireland Electronic address
    Am J Hum Genet 98:869-82. 2016
  5. pmc Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes
    Emma S Reid
    1 Genetics and Genomics Medicine Programme, UCL Institute of Child Health, London, UK
    Brain . 2016
  6. pmc Dual role of ancient ubiquitous protein 1 (AUP1) in lipid droplet accumulation and endoplasmic reticulum (ER) protein quality control
    Elizabeth J Klemm
    Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
    J Biol Chem 286:37602-14. 2011
  7. ncbi The CBFA2T3/ACSF3 locus is recurrently involved in IGH chromosomal translocation t(14;16)(q32;q24) in pediatric B-cell lymphoma with germinal center phenotype
    Itziar Salaverria
    Institute of Human Genetics, University Hospital Schleswig Holstein Campus Kiel Christian Albrechts University, Kiel, Germany
    Genes Chromosomes Cancer 51:338-43. 2012
  8. doi Analysis of differentially expressed genes and microRNAs in alcoholic liver disease
    Ying Liu
    Department of Gastroenterology, Heilongjiang Province Hospital, Harbin, Heilongjiang 150036, PR China
    Int J Mol Med 31:547-54. 2013
  9. doi Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype
    Ahmed Alfares
    Department of Medical Genetics, Montreal Children s Hospital, McGill University, Montreal, Quebec, Canada
    J Med Genet 48:602-5. 2011
  10. pmc Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
    Jennifer L Sloan
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 43:883-6. 2011

Research Grants

Scientific Experts

  • A M Molloy
  • P A Watkins
  • Monique G M de Sain-van der Velden
  • Mihaela Pupavac
  • Emma S Reid
  • David S Rosenblatt
  • Ying Liu
  • Itziar Salaverria
  • Andrzej Witkowski
  • Hui Chen
  • Jennifer L Sloan
  • Elizabeth J Klemm
  • Ahmed Alfares
  • Peter T Clayton
  • Paul Gissen
  • Stella Chen
  • Guoli Wang
  • Nanda M Verhoeven-Duif
  • Yehani Wedatilake
  • Yanming Feng
  • Suzanne Drury
  • Shamima Rahman
  • Stephanie Grunewald
  • Thomas S Jacques
  • Philippa B Mills
  • Jordan Chu
  • Sophia M Varadkar
  • Lara Abulhoul
  • Maria van der Ham
  • Peter M van Hasselt
  • Xia Tian
  • Christopher Boustred
  • Gepke Visser
  • Clare Beesley
  • Hubertus C M T Prinsen
  • Nick Lench
  • Maureen Cleary
  • Lee Jun Wong
  • Remington Fenter
  • Victor W Zhang
  • Glenn Anderson
  • David Watkins
  • Jing Wang
  • Judith J Jans
  • Alex Broomfield
  • Apostolos Papandreou
  • Wyatt W Yue
  • Koen L I van Gassen
  • Shao Hua Chen
  • Xi Jin
  • You Ming Li
  • Ilske Oschlies
  • Reiner Siebert
  • Stefan Gesk
  • Christine Damm-Welk
  • Takashi Akasaka
  • Monika Szczepanowski
  • Birgit Burkhardt
  • Lana Harder
  • Martin J S Dyer
  • Wolfram Klapper
  • Hua Weng
  • Laura Dempsey Nunez
  • Nancy Braverman
  • Marjan Huizing
  • Heidi M Dorward
  • Kevin C H Ha
  • Jennifer Thweatt
  • Nuria Carrillo-Carrasco
  • Serge Melancon
  • Natalie S Hauser
  • Michael D Geschwind
  • John Browse
  • Hidde L Ploegh
  • Jennifer J Johnston
  • Pascale de Lonlay
  • Vassilli Valayannopoulos
  • William L Nyhan
  • John Mitchell
  • Randy J Chandler
  • Suma D Chandrasekaran
  • Neena L Champaigne
  • Justin R Sysol
  • Bruce A Barshop
  • Susan A Berry
  • Julie C Sapp
  • Hyun Uk Kim
  • Natascia Anastasio
  • Kevin O'Brien
  • Irini Manoli

Detail Information

Publications12

  1. pmc Malonyl-CoA synthetase, encoded by ACYL ACTIVATING ENZYME13, is essential for growth and development of Arabidopsis
    Hui Chen
    Institute of Biological Chemistry, Washington State University, Pullman, Washington 99164 6340
    Plant Cell 23:2247-62. 2011
    ..Our results demonstrate that the malonyl-CoA synthetase encoded by AAE13 is essential for healthy growth and development, probably because it is required for the detoxification of malonate...
  2. doi Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism
    Mihaela Pupavac
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada
    Mol Genet Metab 117:363-8. 2016
    ..Of the patients with pathogenic findings, five had mutations in ACSF3, two in SUCLG1 and one in TCN2...
  3. pmc A New Approach for Fast Metabolic Diagnostics in CMAMMA
    Monique G M de Sain-van der Velden
    Department of Medical Genetics, UMC Utrecht, 85090, 3508AB, Utrecht, The Netherlands
    JIMD Rep 30:15-22. 2016
    ..MA) is assumed to differentiate combined malonic and methylmalonic aciduria (CMAMMA), due to mutations in the ACSF3 gene, from other causes of methylmalonic aciduria (classic MMAemia)...
  4. pmc A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin
    Anne M Molloy
    Department of Clinical Medicine, School of Medicine, Trinity College Dublin, The University of Dublin, Dublin 2, Ireland Electronic address
    Am J Hum Genet 98:869-82. 2016
    ..42 × 10(-89)) and acyl-CoA synthetase family member 3 (ACSF3, p = 3.48 × 10(-19)). These loci accounted for 12% of the variance in MMA concentration...
  5. pmc Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes
    Emma S Reid
    1 Genetics and Genomics Medicine Programme, UCL Institute of Child Health, London, UK
    Brain . 2016
    ..and biochemical phenotypes of well-characterized (POMGNT1, TPP1) and recently identified disorders (PGAP2, ACSF3, SERAC1, AFG3L2, DPYS)...
  6. pmc Dual role of ancient ubiquitous protein 1 (AUP1) in lipid droplet accumulation and endoplasmic reticulum (ER) protein quality control
    Elizabeth J Klemm
    Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
    J Biol Chem 286:37602-14. 2011
    ..These findings indicate a possible connection between ER protein quality control and lipid droplets...
  7. ncbi The CBFA2T3/ACSF3 locus is recurrently involved in IGH chromosomal translocation t(14;16)(q32;q24) in pediatric B-cell lymphoma with germinal center phenotype
    Itziar Salaverria
    Institute of Human Genetics, University Hospital Schleswig Holstein Campus Kiel Christian Albrechts University, Kiel, Germany
    Genes Chromosomes Cancer 51:338-43. 2012
    ..3). Candidate oncogenes targeted through this translocation are CBFA2T3 and ACSF3, which could be activated on der(16) and der(14), respectively...
  8. doi Analysis of differentially expressed genes and microRNAs in alcoholic liver disease
    Ying Liu
    Department of Gastroenterology, Heilongjiang Province Hospital, Harbin, Heilongjiang 150036, PR China
    Int J Mol Med 31:547-54. 2013
    ..co-expression genetic networks, node genes modulating the network were Acyl-coenzyme A synthetase-3 (ACSF3), Frizzled-5 (FZD5), LOC727987 and C1orf222...
  9. doi Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype
    Ahmed Alfares
    Department of Medical Genetics, Montreal Children s Hospital, McGill University, Montreal, Quebec, Canada
    J Med Genet 48:602-5. 2011
    ..Most patients have metabolic acidosis, developmental delay, seizures and cardiomyopathy. CMAMMA was also described in symptomatic patients with normal MCD activity, suggesting heterogeneity in this disorder...
  10. pmc Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
    Jennifer L Sloan
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 43:883-6. 2011
    ..We identify mutations in ACSF3, encoding a putative methylmalonyl-CoA and malonyl-CoA synthetase as a cause of CMAMMA...
  11. pmc Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesis
    Andrzej Witkowski
    Children s Hospital Oakland Research Institute, Oakland, California 94609, USA
    J Biol Chem 286:33729-36. 2011
    ..The human candidate protein ACSF3, which has a predicted N-terminal mitochondrial targeting sequence, was cloned, expressed, and characterized as a ..
  12. ncbi Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome
    Paul A Watkins
    Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    J Lipid Res 48:2736-50. 2007
    ..Knowing the full complement of ACS genes in the human genome will facilitate future studies to characterize their specific biological functions...

Research Grants2

  1. Brain Uptake and Utilization of Fatty Acids and Lipids
    Paul Watkins; Fiscal Year: 2004
    ..Mol. Neurosci., which has committed to publish the proceedings of the proposed meeting. ..
  2. XALD: Role of Very Long Chain Fatty Acyl-CoA Synthetases
    Paul Watkins; Fiscal Year: 2006
    ..Furthermore, they will facilitate elucidation of the role of enzymes belonging to the VLACS or BG families in XALD. [unreadable] [unreadable]..