FTO Antibody – Mouse Monoclonal

This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]

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. Specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes. 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. Ref.6 Ref.10

Cofactor: Binds 1 Fe2+ ion per subunit. Ref.10

Enzyme regulation: Activated by ascorbate. Inhibited by N-oxalylglycine, fumarate and succinate

By similarity. Ref.10

Subunit structure: Monomer. May also exist as homodimer

By similarity.

Subcellular location: Nucleus. Nucleus speckle.

Tissue specificity: Ubiquitously expressed, with relatively high expression in adrenal glands and brain; especially in hypothalamus and pituitary. Ref.4 Ref.5

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. Ref.10

Polymorphism: At least one intronic variation within the gene predisposes to childhood and adult obesity.

Involvement in disease: Growth retardation developmental delay coarse facies 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11

Sequence similarities: Belongs to the fto family.

Biophysicochemical propertiespH dependence:Optimum pH is 5.5-6. Ref.6

Sequence caution: The sequence BAB21843.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.