GeneID: 304


Common Name: FTO Type: Gene
Chromosome: 16 (NC_000016.10) Locus: NG_012969.1 (FTO)
HUGO Symbol: FTO Full Name: FTO alpha-ketoglutarate dependent dioxygenase
Exons: 9 Introns: 8

This gene encodes a member of the AlkB family of α-ketoglutarate (αKG, also known as 2-oxoglutarate)-dependent mononuclear non-haem iron (αKG-NHFe) enzymes that catalyze a wide range of biochemical reactions. Nine mammalian AlkB homologs exist (ALKBH1-8, FTO), but only a subset functions as DNA/RNA repair enzymes. FTO comprises an amino-terminal AlkB-like catalytic domain and a carboxy-terminal domain, and interaction between these two domains is needed for FTO activity. FTO repairs 3-methylthymine (m3T) and 3-methyluracil (m3U) in ssDNA, but it is best known for demethylating N6-methyladenine (m6A) in RNA. m6A modification affects all aspects of mRNA metabolism (e.g., mRNA stability, translation efficiency, splicing and localization) and its dysregulation has been linked to a range of human diseases, such as obesity, neurological disorders and male infertility. In the context of hematopoiesis, m6A was found to regulate the expansion and self-renewal of hematopoietic stem cells. Genetic variance in FTO gene associated with acute chest syndrome (ACS) and episodes of pain in patients with sickle cell disease. ACS is a form of acute lung injury caused by vaso-occlusion within the pulmonary microvasculature. Etiologies either trigger vaso-occlusion (e.g., infection, asthma, hypoventilation) or are a result of vaso-occlusion (e.g., bone marrow and fat emboli).

Synonyms: KIAA1752 , MGC5149 , ALKBH9


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Publications / Origin

  1. Melton CW, Haynes J, Sickle acute lung injury: role of prevention and early aggressive intervention strategies on outcome., Clin. Chest Med., 27(3), 487-502, vii, 2006 PubMed
  2. Han Z, Niu T, Chang J, Lei X, Zhao M, Wang Q, Cheng W, Wang J, Feng Y, Chai J, Crystal structure of the FTO protein reveals basis for its substrate specificity., Nature, 464(7292), 1205-9, 2010 PubMed
  3. Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013 PubMed
  4. Fedeles BI, Singh V, Delaney JC, Li D, Essigmann JM, The AlkB Family of Fe(II)/α-Ketoglutarate-dependent Dioxygenases: Repairing Nucleic Acid Alkylation Damage and Beyond., J. Biol. Chem., 290(34), 20734-42, 2015 PubMed
  5. Cao G, Li HB, Yin Z, Flavell RA, Recent advances in dynamic m6A RNA modification., Open Biol, 6(4), 160003, 2016 PubMed
Created on 2019-10-15 11:02:40, Last reviewed on (Show full history)

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