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 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
  2. 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. 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
  4. 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
  5. 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
  6. 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
  7. 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

Scientific Experts

  • P A Watkins
  • Ying Liu
  • Itziar Salaverria
  • Jennifer L Sloan
  • Andrzej Witkowski
  • Elizabeth J Klemm
  • Ahmed Alfares
  • Shao Hua Chen
  • Xi Jin
  • You Ming Li
  • Takashi Akasaka
  • Reiner Siebert
  • Lana Harder
  • Monika Szczepanowski
  • Christine Damm-Welk
  • Stefan Gesk
  • Ilske Oschlies
  • Birgit Burkhardt
  • Wolfram Klapper
  • Martin J S Dyer
  • Susan A Berry
  • Suma D Chandrasekaran
  • Kevin C H Ha
  • Jennifer J Johnston
  • Heidi M Dorward
  • Nuria Carrillo-Carrasco
  • Randy J Chandler
  • Pascale de Lonlay
  • Hidde L Ploegh
  • Jennifer Thweatt
  • Julie C Sapp
  • Irini Manoli
  • Jacek Majewski
  • Serge Melancon
  • Laura Dempsey Nunez
  • Neena L Champaigne
  • Khalid Al-Thihli
  • Nancy Braverman
  • Natalie S Hauser
  • Justin R Sysol
  • David S Rosenblatt
  • Natascia Anastasio
  • Vassilli Valayannopoulos
  • Leslie G Biesecker
  • Bruce A Barshop
  • William L Nyhan
  • Eric Spooner
  • Caitlin Krause
  • Marjan Huizing
  • Michael D Geschwind
  • John Mitchell
  • Charles P Venditti
  • Kevin O'Brien
  • Dimitar K Gavrilov
  • Stuart Smith
  • Philip M James

Detail Information

Publications7

  1. 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...
  2. 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...
  3. 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...
  4. 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...
  5. 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...
  6. 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 ..
  7. 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 Grants11

  1. Acyl-CoA synthetase ACSVL3 in Malignant Glioma: Metabolism and Oncogenic Cellular
    Paul Watkins; Fiscal Year: 2009
    ..Results of these studies will provide a critical assessment of the mechanism by which this enzyme contributes to the malignant phenotype, and the potential therapeutic benefit of targeting this enzyme in glioma. ..
  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. ..
  3. 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. ..
  4. XALD--ROLE OF VERY LONG CHAIN FATTY ACYL COA SYNTHETASES
    Paul Watkins; Fiscal Year: 2002
    ..abstract_text> ..
  5. Acyl-CoA synthetase ACSVL3 in Malignant Glioma: Metabolism and Oncogenic Cellular
    Paul A Watkins; Fiscal Year: 2010
    ..Results of these studies will provide a critical assessment of the mechanism by which this enzyme contributes to the malignant phenotype, and the potential therapeutic benefit of targeting this enzyme in glioma. ..