Protein Description

Gene Symbol FTO
Entrez ID 79068
Uniprot ID Q9C0B1
Description fat mass and obesity associated
Chromosomal Location chr16: 53,701,692-54,158,512
Ontology GO ID GO Term Definition Evidence

BP

GO:0001659

temperature homeostasis

A homeostatic process in which an organism modulates its internal body temperature.

IEA

BP

GO:0006307

DNA dealkylation involved in DNA repair

The repair of alkylation damage, e.g. the removal of the alkyl group at the O6-position of guanine by O6-alkylguanine-DNA alkyltransferase (AGT).

IDA

BP

GO:0010883

regulation of lipid storage

Any process that modulates the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development.

IMP

BP

GO:0035552

oxidative single-stranded DNA demethylation

Removal of the methyl group from one or more nucleotides within a single-stranded DNA molecule involving the oxidation (i.e. electron loss) of one or more atoms.

IDA

BP

GO:0035553

oxidative single-stranded RNA demethylation

Removal of the methyl group from one or more nucleotides within a single-stranded RNA molecule involving the oxidation (i.e. electron loss) of one or more atoms.

IDA|IMP

BP

GO:0040014

regulation of multicellular organism growth

Any process that modulates the frequency, rate or extent of growth of the body of an organism so that it reaches its usual body size.

IEA

BP

GO:0042245

RNA repair

Any process that results in the repair of damaged RNA.

IDA

BP

GO:0044065

regulation of respiratory system process

Any process that modulates the frequency, rate or extent of a respiratory system process, an organ system process carried out by any of the organs or tissues of the respiratory system.

IEA

BP

GO:0060612

adipose tissue development

The process whose specific outcome is the progression of adipose tissue over time, from its formation to the mature structure. Adipose tissue is specialized tissue that is used to store fat.

IEA

BP

GO:0070350

regulation of white fat cell proliferation

Any process that modulates the frequency, rate or extent of white fat cell proliferation.

IEA

BP

GO:0070989

oxidative demethylation

The process of removing one or more methyl groups from a molecule, involving the oxidation (i.e. electron loss) of one or more atoms in the substrate.

IDA

BP

GO:0080111

DNA demethylation

The removal of a methyl group from one or more nucleotides within an DNA molecule.

IDA

BP

GO:0090335

regulation of brown fat cell differentiation

Any process that modulates the rate, frequency, or extent of brown fat cell differentiation. Brown fat cell differentiation is the process in which a relatively unspecialized cell acquires specialized features of a brown adipocyte, an animal connective tissue cell involved in adaptive thermogenesis. Brown adipocytes contain multiple small droplets of triglycerides and a high number of mitochondria.

IMP

CC

GO:0005634

nucleus

A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

IDA|ISS

CC

GO:0016607

nuclear speck

A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.

IDA

MF

GO:0008198

ferrous iron binding

Interacting selectively and non-covalently with ferrous iron, Fe(II).

IDA

MF

GO:0035515

oxidative RNA demethylase activity

Catalysis of the removal of a methyl group from one or more nucleosides within a RNA molecule involving the oxidation (i.e. electron loss) of one or more atoms.

IDA

MF

GO:0035516

oxidative DNA demethylase activity

Catalysis of the removal of the methyl group from one or more nucleotides within a DNA molecule involving the oxidation (i.e. electron loss) of one or more atoms.

IDA

MF

GO:0043734

DNA-N1-methyladenine dioxygenase activity

Catalysis of the oxidative demethylation of N1-methyladenine and N3-methylcytosine in DNA, with concomitant decarboxylation of 2-oxoglutarate and releases oxidized methyl group on N1-methyladenine and N3-methylcytosine as formaldehyde.

IDA

MF

GO:1990931

RNA N6-methyladenosine dioxygenase activity

Catalysis of the oxidative demethylation of N6-methyladenosine RNA, with concomitant decarboxylation of 2-oxoglutarate and releases oxidized methyl group on N6-methyladenosine as formaldehyde.

IMP

Domain ID Description

IPR024366

Alpha-ketoglutarate-dependent dioxygenase FTO, C-terminal

IPR024367

Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain

IPR027450

Alpha-ketoglutarate-dependent dioxygenase AlkB-like

IPR032868

Alpha-ketoglutarate-dependent dioxygenase FTO

Pathway ID Pathway Term Pathway Source

WP3407

FTO Obesity Variant Mechanism

WikiPathways

UMLS CUI UMLS Term

C0005910

Body Weight

C0006142

Malignant Neoplasm Of Breast

C0011860

Diabetes Mellitus, Non-Insulin-Dependent

C0025202

Melanoma

C0028754

Obesity

C0524620

Metabolic Syndrome X

C1458155

Mammary Neoplasms

C2607914

Allergic Rhinitis (Disorder)

Tissue Cell Type

adrenal gland

glandular cells

cerebellum

cells in granular layer

cervix, uterine

glandular cells

epididymis

glandular cells

nasopharynx

respiratory epithelial cells

pancreas

exocrine glandular cells

pancreas

islets of Langerhans

parathyroid gland

glandular cells

placenta

decidual cells

salivary gland

glandular cells

skeletal muscle

myocytes

soft tissue

fibroblasts

testis

Leydig cells

thyroid gland

glandular cells

Database Name

DisGeNET

DISEASES

DGA

Pubmed ID Author Year Title

12734205

Wood et al.

2003

The Molecular Phenotype of Polycystic Ovary Syndrome (PCOS) Theca Cells and New Candidate PCOS Genes Defined by Microarray Analysis

Gene Symbol Entrez ID Uniprot ID Score

CKB

1152

P12277

0.63

EEF2

1938

P13639

0.63

LDHA

3939

P00338

0.63

LDHB

3945

P07195

0.63

MVD

4597

P53602

0.63

SLC9A3R1

9368

O14745

0.63

NPEPPS

9520

P55786

0.63

NDRG1

10397

Q92597

0.63

TKFC

26007

Q3LXA3

0.63

CNDP2

55748

Q96KP4

0.63

BCCIP

56647

Q9P287

0.63

NEDD8

4738

Q15843

0.63

PEPD

5184

P12955

0.63

CTSA

5476

P10619

0.63

SUMO1

7341

P63165

0.63

GABARAPL2

11345

P60520

0.63

ZMAT3

64393

Q9HA38

0.63

SLX4

84464

Q8IY92

0.63