Entity Details

Primary name FTO_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9C0B1
EntryNameFTO_HUMAN
FullNameAlpha-ketoglutarate-dependent dioxygenase FTO
TaxID9606
Evidenceevidence at protein level
Length505
SequenceStatuscomplete
DateCreated2007-05-01
DateModified2021-06-02

Ontological Relatives

GenesFTO

GO terms

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GOName
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006307 DNA dealkylation involved in DNA repair
GO:0008198 ferrous iron binding
GO:0010883 regulation of lipid storage
GO:0016607 nuclear speck
GO:0016740 transferase activity
GO:0035515 oxidative RNA demethylase activity
GO:0035516 oxidative DNA demethylase activity
GO:0035552 oxidative single-stranded DNA demethylation
GO:0035553 oxidative single-stranded RNA demethylation
GO:0040014 regulation of multicellular organism growth
GO:0042245 RNA repair
GO:0043231 intracellular membrane-bounded organelle
GO:0043734 DNA-N1-methyladenine dioxygenase activity
GO:0061157 mRNA destabilization
GO:0070989 oxidative demethylation
GO:0080111 DNA demethylation
GO:0090335 regulation of brown fat cell differentiation
GO:1990931 RNA N6-methyladenosine dioxygenase activity
GO:1990984 tRNA demethylase activity

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus
Nucleus speckle

Domains

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DomainNameCategoryType
IPR024366 Alpha-ketoglutarate-dependent dioxygenase FTO, C-terminalDomainDomain
IPR024367 Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domainDomainDomain
IPR032868 Alpha-ketoglutarate-dependent dioxygenase FTOFamilyFamily
IPR037151 Alpha-ketoglutarate-dependent dioxygenase AlkB-like superfamilyFamilyHomologous superfamily
IPR038413 FTO, C-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
612938 OMIMGrowth retardation, developmental delay, and facial dysmorphism (GDFD)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. The disease is caused by variants affecting the gene represented in this entry.
601665 OMIMObesity (OBESITY)A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. Disease susceptibility is associated with variants affecting the gene represented in this entry. It is unclear whether variations associated with obesity directly affect FTO function or alter the expression of adjacent genes such as IRX3, rather than FTO itself (PubMed:24646999, PubMed:26287746). A pathogenic intronic FTO variation (rs1421085) disrupts an evolutionarily conserved motif for ARID5B binding (PubMed:26287746). Loss of ARID5B binding results in overexpression of two genes distal to FTO, IRX3 and IRX5. IRX3 and IRX5 overexpression shifts pre-adipocytes differentiation from brown to white fat cells, resulting in increased lipid storage and loss of mitochondrial thermogenesis (PubMed:26287746).

Drugs

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DrugNameSourceType
DB11638 ArtenimolDrugbanksmall molecule