4ie5: Difference between revisions
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{{STRUCTURE_4ie5| PDB=4ie5 | SCENE= }} | |||
===Crystal structure of the human fat, mass and obesity associated protein (FTO) in complex with N-[(3-hydroxypyridin-2-yl)carbonyl]glycine (MD6)=== | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/FTO_HUMAN FTO_HUMAN]] Defects in FTO are the cause of growth retardation developmental delay coarse facies and early death (GDFD) [MIM:[http://omim.org/entry/612938 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.<ref>PMID:19559399</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/FTO_HUMAN FTO_HUMAN]] 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.<ref>PMID:18775698</ref> <ref>PMID:20376003</ref> | |||
==About this Structure== | |||
[[4ie5]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4IE5 OCA]. | |||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | |||
[[Category: Aik, W S.]] | |||
[[Category: McDonough, M A.]] | |||
[[Category: Schofield, C J.]] | |||
[[Category: Dioxygenase]] | |||
[[Category: Double-stranded beta helix]] | |||
[[Category: Jelly-roll motif]] | |||
[[Category: Nucleic acid demethylase]] | |||
[[Category: Oxidoreductase]] | |||
[[Category: Oxidoreductase-oxidoreductase inhibitor complex]] | |||