InnateDB Protein
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IDBP-480253.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FTO
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Protein Name
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fat mass and obesity associated
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000418823
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InnateDB Gene
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IDBG-31147 (FTO)
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Protein Structure
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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. {ECO:0000269PubMed:18775698, ECO:0000269PubMed:20376003, ECO:0000269PubMed:22002720}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:22002720}. Nucleus speckle {ECO:0000269PubMed:22002720}.
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Disease Associations |
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. {ECO:0000269PubMed:19559399}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitously expressed, with relatively high expression in adrenal glands and brain; especially in hypothalamus and pituitary. {ECO:0000269PubMed:17434869, ECO:0000269PubMed:17496892}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
17
[view]
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Protein-Protein |
17
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9C0B1
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PhosphoSite |
PhosphoSite-Q9C0B1
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TrEMBL |
B4DHN4
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UniProt Splice Variant |
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Entrez Gene |
79068
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UniGene |
Hs.636768
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RefSeq |
NP_001073901
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HUGO |
HGNC:24678
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OMIM |
610966
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CCDS |
CCDS32448
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HPRD |
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IMGT |
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EMBL |
AB051539
AC007347
AC007496
AC007909
AK295196
BC003583
BC030798
BC132892
BC137091
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GenPept |
AAH03583
AAH30798
AAI32893
AAI37092
BAB21843
BAG58196
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