FTO_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)

Gene names: FTO , KIAA1752
Protein names and data: FTO_HUMAN , Alpha-ketoglutarate-dependent dioxygenase FTO; 1.14.11.- , Fat mass and obesity-associated protein Lenght: 505 a.a.
Mass: 58282 Da
fasta formatted sequence

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.
Disease:
Cellular location: Nucleus (By similarity).
Tissue specificity: Ubiquitously expressed, with relatively high expression in adrenal glands and brain; especially in hypothalamus and pituitary.

Genetic variants

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

Database cross-references

UniProt: Q9C0B1
Ensembl: ENST00000431610
Ensembl: ENST00000460382
Ensembl: ENST00000463855
Ensembl: ENST00000471389
MIM: 610966
MIM: 612938
neXtProt: NX_Q9C0B1
Antibodypedia: Q9C0B1 (may not find the protein thus also not any antibody)
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