InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FTO

Summary

InnateDB Protein

IDBP-377069.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FTO

Protein Name

fat mass and obesity associated

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000415636

InnateDB Gene

IDBG-31147 (FTO)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:22002720}. Nucleus speckle {ECO:0000269PubMed:22002720}.

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.

Tissue Specificity

Ubiquitously expressed, with relatively high expression in adrenal glands and brain; especially in hypothalamus and pituitary. {ECO:0000269PubMed:17434869, ECO:0000269PubMed:17496892}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.

Experimentally validated
Total	17 [view]
Protein-Protein	17 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008198	ferrous iron binding
GO:0035515	oxidative RNA demethylase activity
GO:0035516	oxidative DNA demethylase activity
GO:0043734	DNA-N1-methyladenine dioxygenase activity

Biological Process

GO:0006307	DNA dealkylation involved in DNA repair
GO:0035552	oxidative single-stranded DNA demethylation
GO:0035553	oxidative single-stranded RNA demethylation
GO:0042245	RNA repair
GO:0070989	oxidative demethylation
GO:0080111	DNA demethylation