FTO基因

FTO基因全稱脂肪和肥胖相關基因（Fat mass and obesity-associated），在人類基因組中位於16號染色體，此基因編碼的FTO蛋白屬AlkB家族（英語：AlkB）（即與細菌的AlkB蛋白同源^[6][7]），為α-酮戊二酸依賴性羥化酶（英語：alpha-ketoglutarate-dependent hydroxylase）^[6]。此基因可能與肥胖症有關^[8][9]。2011年何川實驗室發現FTO蛋白可將mRNA上的N6-甲基腺苷（m⁶A）去甲基化成腺苷（A），為第一個被發現的mRNA去甲基酶^[10][11]。

肥胖基因
已知的結構 PDB 直系同源搜尋: PDBe RCSB PDBID列表 3LFM、​4IDZ、​4IE0、​4IE4、​4IE5、​4IE6、​4IE7、​4CXW、​4CXX、​4CXY、​4QHO、​4QKN、​4ZS3、​4ZS2
識別號
別名	FTO；, ALKBH9, GDFD, BMIQ14, fat mass and obesity associated, alpha-ketoglutarate dependent dioxygenase
外部ID	OMIM：610966 MGI：1347093 HomoloGene：8053 GeneCards：FTO
相關疾病
二型糖尿病、​肥胖症、​morbid obesity、​黑色素瘤、​退化性關節炎、​代謝疾病、​慢性阻塞性肺病、​lethal polymalformative syndrome, Boissel type[1]
基因位置（人類） 染色體 16號染色體[2] 基因座 16q12.2 起始 53,701,692 bp[2] 終止 54,158,512 bp[2]
基因位置（小鼠） 染色體 小鼠8號染色體[3] 基因座 8 C5|8 44.34 cM 起始 92,040,153 bp[3] 終止 92,395,067 bp[3]
RNA表達模式
查閱更多表達數據
基因本體 分子功能 • oxidative DNA demethylase activity • dioxygenase activity • 金屬離子結合 • DNA-N1-methyladenine dioxygenase activity • oxidoreductase activity • ferrous iron binding • mRNA N6-methyladenosine dioxygenase activity • oxidative RNA demethylase activity 細胞組分 • nuclear speck • 細胞核 • 核質 生物學過程 • regulation of multicellular organism growth • regulation of respiratory system process • regulation of white fat cell proliferation • cellular response to DNA damage stimulus • oxidative demethylation • oxidative single-stranded RNA demethylation • regulation of lipid storage • RNA repair • adipose tissue development • DNA去甲基化 • regulation of brown fat cell differentiation • temperature homeostasis • oxidative single-stranded DNA demethylation • DNA修復 • DNA dealkylation involved in DNA repair Sources:Amigo / QuickGO
直系同源
物種	人類	小鼠
Entrez	79068	26383
Ensembl	ENSG00000140718	ENSMUSG00000055932
UniProt	Q9C0B1	Q8BGW1
mRNA​序列	​NM_001080432	NM_011936
蛋白序列	NP_001073901 ​NP_001350820 ​NP_001350823 ​NP_001350825 ​NP_001350826 ​NP_001350827 ​NP_001350828 ​NP_001350829 ​NP_001350830 ​NP_001350832 ​NP_001350834 ​NP_001350917	NP_036066
基因位置​（UCSC）	Chr 16: 53.7 – 54.16 Mb	Chr 8: 92.04 – 92.4 Mb
PubMed​查找	[4]	[5]
維基數據
檢視/編輯人類 檢視/編輯小鼠

參考文獻

• 分子與細胞生物學主題

1. 與肥胖基因相關的疾病；在維基數據上查看/編輯參考.
2. GRCh38: Ensembl release 89: ENSG00000140718 - Ensembl, May 2017
3. GRCm38: Ensembl release 89: ENSMUSG00000055932 - Ensembl, May 2017
4. Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
6. Gerken T, Girard CA, Tung YC, Webby CJ, Saudek V, Hewitson KS, Yeo GS, McDonough MA, Cunliffe S, McNeill LA, Galvanovskis J, Rorsman P, Robins P, Prieur X, Coll AP, Ma M, Jovanovic Z, Farooqi IS, Sedgwick B, Barroso I, Lindahl T, Ponting CP, Ashcroft FM, O'Rahilly S, Schofield CJ. The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase. Science. November 2007, 318 (5855): 1469–72. Bibcode:2007Sci...318.1469G. PMC 2668859 . PMID 17991826. doi:10.1126/science.1151710.
7. Sanchez-Pulido L, Andrade-Navarro MA. The FTO (fat mass and obesity associated) gene codes for a novel member of the non-heme dioxygenase superfamily. BMC Biochemistry. November 2007, 8: 23. PMC 2241624 . PMID 17996046. doi:10.1186/1471-2091-8-23.
8. Loos RJ, Yeo GS. The bigger picture of FTO: the first GWAS-identified obesity gene. Nature Reviews. Endocrinology. January 2014, 10 (1): 51–61. PMC 4188449 . PMID 24247219. doi:10.1038/nrendo.2013.227.
9. Claussnitzer M, Dankel SN, Kim KH, Quon G, Meuleman W, Haugen C, et al. FTO Obesity Variant Circuitry and Adipocyte Browning in Humans. The New England Journal of Medicine. September 2015, 373 (10): 895–907. PMC 4959911 . PMID 26287746. doi:10.1056/NEJMoa1502214.
10. Jia G, Fu Y, Zhao X, Dai Q, Zheng G, Yang Y, Yi C, Lindahl T, Pan T, Yang YG, He C. N6-methyladenosine in nuclear RNA is a major substrate of the obesity-associated FTO. Nature Chemical Biology. October 2011, 7 (12): 885–7. PMC 3218240 . PMID 22002720. doi:10.1038/nchembio.687.
11. Meyer KD, Saletore Y, Zumbo P, Elemento O, Mason CE, Jaffrey SR. Comprehensive analysis of mRNA methylation reveals enrichment in 3' UTRs and near stop codons. Cell. June 2012, 149 (7): 1635–46. PMC 3383396 . PMID 22608085. doi:10.1016/j.cell.2012.05.003.