ID:FTO_HUMAN DESCRIPTION: RecName: Full=Alpha-ketoglutarate-dependent dioxygenase FTO; EC=1.14.11.-; AltName: Full=Fat mass and obesity-associated protein; FUNCTION: Dioxygenase that repairs alkylated DNA and RNA by oxidative demethylation. Has highest activity towards single- stranded RNA containing 3-methyluracil, followed by single- stranded DNA containing 3-methylthymine. Has low demethylase activity towards single-stranded DNA containing 1-methyladenine or 3-methylcytosine. Has no activity towards 1-methylguanine. Has no detectable activity towards double-stranded DNA. Requires molecular oxygen, alpha-ketoglutarate and iron. Contributes to the regulation of the global metabolic rate, energy expenditure and energy homeostasis. Contributes to the regulation of body size and body fat accumulation. COFACTOR: Binds 1 Fe(2+) ion per subunit. ENZYME REGULATION: Activated by ascorbate. Inhibited by N- oxalylglycine, fumarate and succinate (By similarity). BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 5.5-6; SUBUNIT: Monomer. May also exist as homodimer (By similarity). SUBCELLULAR LOCATION: Nucleus (By similarity). TISSUE SPECIFICITY: Ubiquitously expressed, with relatively high expression in adrenal glands and brain; especially in hypothalamus and pituitary. DOMAIN: The 3D-structure of the Fe2OG dioxygenase domain is similar to that of the Fe2OG dioxygenase domain found in the bacterial DNA repair dioxygenase alkB and its mammalian orthologs, but sequence similarity is very low. As a consequence, the domain is not detected by protein signature databases. POLYMORPHISM: At least one intronic variation within the gene predisposes to childhood and adult obesity. DISEASE: Defects in FTO are the cause of growth retardation developmental delay coarse facies and early death (GDFD) [MIM:612938]. A severe polymalformation syndrome characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits and characteristic facial dysmorphism. In some patients, structural brain malformations, cardiac defects, genital anomalies, and cleft palate are observed. Early death occurs by the age of 3 years. SIMILARITY: Belongs to the fto family. SEQUENCE CAUTION: Sequence=BAB21843.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9C0B1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0008198 ferrous iron binding GO:0016491 oxidoreductase activity GO:0035515 oxidative RNA demethylase activity GO:0035516 oxidative DNA demethylase activity GO:0043734 DNA-N1-methyladenine dioxygenase activity GO:0046872 metal ion binding GO:0051213 dioxygenase activity GO:1990931 RNA N6-methyladenosine dioxygenase activity
Biological Process: GO:0001659 temperature homeostasis GO:0006281 DNA repair GO:0006307 DNA dealkylation involved in DNA repair GO:0006974 cellular response to DNA damage stimulus GO:0010883 regulation of lipid storage GO:0035552 oxidative single-stranded DNA demethylation GO:0035553 oxidative single-stranded RNA demethylation GO:0040014 regulation of multicellular organism growth GO:0042245 RNA repair GO:0044065 regulation of respiratory system process GO:0055114 oxidation-reduction process GO:0060612 adipose tissue development GO:0070350 regulation of white fat cell proliferation GO:0070989 oxidative demethylation GO:0080111 DNA demethylation GO:0090335 regulation of brown fat cell differentiation
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
