| Tbio | Alpha-ketoglutarate-dependent dioxygenase FTO |
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 (PubMed:18775698, PubMed:20376003). Specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes (PubMed:22002720, PubMed:26458103). 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 (PubMed:18775698, PubMed:20376003). In particular, it is involved in the regulation of thermogenesis and the control of adipocyte differentiation into brown or white fat cells (PubMed:26287746).
This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]
This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 | 1 | 0.0 | 0.0 |
| Body Weight | 14 | 0.0 | 0.0 |
| Breast Neoplasms | 445 | 0.0 | 0.0 |
| Diabetes Mellitus, Type 2 | 142 | 0.0 | 0.0 |
| Growth Retardation, Developmental Delay, Coarse Facies, And Early Death | 1 | 0.0 | 0.0 |
| Pediatric Obesity | 4 | 0.0 | 0.0 |
| Weight Gain | 100 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8520 | 4.3e-12 |
| psoriasis | 6694 | 1.8e-05 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Obesity | 678 | 6.768 | 3.4 |
| Acquired metabolic disease | 336 | 0.0 | 3.0 |
| Breast cancer | 3578 | 0.0 | 5.3092647973834E-11 |
| Chronic obstructive pulmonary disease | 184 | 0.0 | 3.0 |
| Melanoma | 711 | 0.0 | 3.0 |
| Metabolic syndrome X | 52 | 0.0 | 3.0 |
| Osteoarthritis | 184 | 0.0 | 1.1 |
| Type 2 diabetes mellitus | 272 | 0.0 | 3.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Polycystic ovary syndrome | 360 | 3.183 | 1.6 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| diabetes mellitus | 1728 | 4.904 | 2.5 |
| Disease | Target Count |
|---|---|
| Growth Retardation, Developmental Delay, and Facial Dysmorphism | 1 |
| Disease | log2 FC | p |
|---|---|---|
| Breast cancer | -1.400 | 5.3e-11 |
| ovarian cancer | -2.000 | 4.3e-12 |
| psoriasis | -2.000 | 1.8e-05 |
MKRTPTAEEREREAKKLRLLEELEDTWLPYLTPKDDEFYQQWQLKYPKLILREASSVSEELHKEVQEAFL 1 - 70 TLHKHGCLFRDLVRIQGKDLLTPVSRILIGNPGCTYKYLNTRLFTVPWPVKGSNIKHTEAEIAAACETFL 71 - 140 KLNDYLQIETIQALEELAAKEKANEDAVPLCMSADFPRVGMGSSYNGQDEVDIKSRAAYNVTLLNFMDPQ 141 - 210 KMPYLKEEPYFGMGKMAVSWHHDENLVDRSAVAVYSYSCEGPEEESEDDSHLEGRDPDIWHVGFKISWDI 211 - 280 ETPGLAIPLHQGDCYFMLDDLNATHQHCVLAGSQPRFSSTHRVAECSTGTLDYILQRCQLALQNVCDDVD 281 - 350 NDDVSLKSFEPAVLKQGEEIHNEVEFEWLRQFWFQGNRYRKCTDWWCQPMAQLEALWKKMEGVTNAVLHE 351 - 420 VKREGLPVEQRNEILTAILASLTARQNLRREWHARCQSRIARTLPADQKPECRPYWEKDDASMPLPFDLT 421 - 490 DIVSELRGQLLEAKP 491 - 505 //
