DISEASES

Disease-gene associations mined from literature

Literature on FTO

FTO [ENSP00000418823]

Alpha-ketoglutarate-dependent dioxygenase FTO; RNA demethylase that mediates oxidative demethylation of different RNA species, such as mRNAs, tRNAs and snRNAs, and acts as a regulator of fat mass, adipogenesis and energy homeostasis (PubMed:22002720, PubMed:26458103, PubMed:28002401, PubMed:30197295, PubMed:26457839, PubMed:25452335). Specifically demethylates N(6)- methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes (PubMed:22002720, PubMed:26458103, PubMed:30197295, PubMed:26457839, PubMed:25452335). M6A demethylation by FTO affects mRNA expression and stability . Also able to demethylate m6A in U6 small nuclear RNA (snRNA) . Mediates demethylation of N(6),2'-O- dimethyladenosine cap (m6A(m)), by demethylating the N(6)- methyladenosine at the second transcribed position of mRNAs and U6 snRNA . Demethylation of m6A(m) in the 5'-cap by FTO affects mRNA stability by promoting susceptibility to decapping . Also acts as a tRNA demethylase by removing N(1)-methyladenine from various tRNAs . Has no activity towards 1-methylguanine . Has no detectable activity towards double-stranded DNA . Also able to repair alkylated DNA and RNA by oxidative demethylation: demethylates single-stranded RNA containing 3-methyluracil, single- stranded DNA containing 3-methylthymine and has low demethylase activity towards single-stranded DNA containing 1-methyladenine or 3- methylcytosine . Ability to repair alkylated DNA and RNA is however unsure in vivo (PubMed:18775698, PubMed:20376003). Involved in the regulation of fat mass, adipogenesis and body weight, thereby contributing to the regulation of body size and body fat accumulation . Involved in the regulation of thermogenesis and the control of adipocyte differentiation into brown or white fat cells . Regulates activity of the dopaminergic midbrain circuitry via its ability to demethylate m6A in mRNAs (By similarity). Plays an oncogenic role in a number of acute myeloid leukemias by enhancing leukemic oncogene-mediated cell transformation: acts by mediating m6A demethylation of target transcripts such as MYC, CEBPA, ASB2 and RARA, leading to promote their expression . ECO:0000269|PubMed:20376003, ECO:0000269|PubMed:22002720, ECO:0000269|PubMed:25452335, ECO:0000269|PubMed:26287746, ECO:0000269|PubMed:26457839, ECO:0000269|PubMed:26458103, ECO:0000269|PubMed:28002401, ECO:0000269|PubMed:28017614,

Synonyms:  FTO,  A0A1B0GTC3,  A0A1B0GTC5,  A0A1B0GTI3,  A0A1B0GTY1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM