ID FATSO_HUMAN Reviewed; 505 AA. AC Q9C0B1; A2RUH1; Q0P676; Q7Z785; DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot. DT 29-MAY-2007, sequence version 3. DT 10-JUN-2008, entry version 25. DE Protein fatso (Fat mass and obesity-associated protein). GN Name=FTO; Synonyms=KIAA1752; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Brain; RX MEDLINE=21082932; PubMed=11214970; DOI=10.1093/dnares/7.6.347; RA Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. XIX. RT The complete sequences of 100 new cDNA clones from brain which code RT for large proteins in vitro."; RL DNA Res. 7:347-355(2000). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RC TISSUE=Brain; RX PubMed=15616553; DOI=10.1038/nature03187; RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., RA Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., RA Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., RA Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., RA Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., RA Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., RA Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., RA Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., RA Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., RA Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., RA Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., RA Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., RA Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., RA Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., RA Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., RA Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., RA Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., RA Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., RA Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., RA Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., RA Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., RA Rubin E.M., Pennacchio L.A.; RT "The sequence and analysis of duplication-rich human chromosome 16."; RL Nature 432:988-994(2004). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4). RC TISSUE=Cervix, Eye, and Lung; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [4] RP INVOLVEMENT IN PREDISPOSITION OF OBESITY, AND TISSUE SPECIFICITY. RX PubMed=17496892; DOI=10.1038/ng2048; RA Dina C., Meyre D., Gallina S., Durand E., Korner A., Jacobson P., RA Carlsson L.M.S., Kiess W., Vatin V., Lecoeur C., Delplanque J., RA Vaillant E., Pattou F., Ruiz J., Weill J., Levy-Marchal C., Horber F., RA Potoczna N., Hercberg S., Le Stunff C., Bougneres P., Kovacs P., RA Marre M., Balkau B., Cauchi S., Chevre J.-C., Froguel P.; RT "Variation in FTO contributes to childhood obesity and severe adult RT obesity."; RL Nat. Genet. 39:724-726(2007). RN [5] RP INVOLVEMENT IN PREDISPOSITION OF OBESITY, AND TISSUE SPECIFICITY. RX PubMed=17434869; DOI=10.1126/science.1141634; RA Frayling T.M., Timpson N.J., Weedon M.N., Zeggini E., Freathy R.M., RA Lindgren C.M., Perry J.R., Elliott K.S., Lango H., Rayner N.W., RA Shields B., Harries L.W., Barrett J.C., Ellard S., Groves C.J., RA Knight B., Patch A.M., Ness A.R., Ebrahim S., Lawlor D.A., Ring S.M., RA Ben-Shlomo Y., Jarvelin M.-R., Sovio U., Bennett A.J., Melzer D., RA Ferrucci L., Loos R.J., Barroso I., Wareham N.J., Karpe F., Owen K.R., RA Cardon L.R., Walker M., Hitman G.A., Palmer C.N., Doney A.S., RA Morris A.D., Davey-Smith G., Hattersley A.T., McCarthy M.I.; RT "A common variant in the FTO gene is associated with body mass index RT and predisposes to childhood and adult obesity."; RL Science 316:889-894(2007). CC -!- FUNCTION: The precise function of this protein remains to be CC determined. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=4; CC Name=1; CC IsoId=Q9C0B1-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9C0B1-2; Sequence=VSP_025004, VSP_025005; CC Note=No experimental confirmation available; CC Name=3; CC IsoId=Q9C0B1-3; Sequence=VSP_025002, VSP_025006; CC Note=No experimental confirmation available; CC Name=4; CC IsoId=Q9C0B1-4; Sequence=VSP_025003; CC Note=No experimental confirmation available; CC -!- TISSUE SPECIFICITY: Ubiquitously expressed, with relatively high CC expression in adrenal glands and brain; especially in hypothalamus CC and pituitary. CC -!- POLYMORPHISM: At least one intronic variation within the gene CC predisposes to childhood and adult obesity. CC -!- MISCELLANEOUS: This protein was called 'Fatso' (Fto) due to the CC large size of its gene. CC -!- SIMILARITY: Belongs to the fatso family. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; AB051539; BAB21843.1; ALT_INIT; mRNA. DR EMBL; AC007347; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC007496; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC007909; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC003583; AAH03583.1; -; mRNA. DR EMBL; BC030798; AAH30798.1; -; mRNA. DR EMBL; BC132892; AAI32893.1; -; mRNA. DR RefSeq; NP_001073901.1; -. DR UniGene; Hs.528833; -. DR Ensembl; ENSG00000140718; Homo sapiens. DR GeneID; 79068; -. DR KEGG; hsa:79068; -. DR NMPDR; fig|9606.3.peg.12249; -. DR HGNC; HGNC:24678; FTO. DR MIM; 610966; gene. DR HOVERGEN; Q9C0B1; -. DR ArrayExpress; Q9C0B1; -. DR CleanEx; HS_FTO; -. DR GO; GO:0007368; P:determination of left/right symmetry; ISS:HGNC. DR GO; GO:0030326; P:embryonic limb morphogenesis; ISS:HGNC. PE 2: Evidence at transcript level; KW Alternative splicing; Obesity; Polymorphism. FT CHAIN 1 505 Protein fatso. FT /FTId=PRO_0000286163. FT VAR_SEQ 1 445 Missing (in isoform 3). FT /FTId=VSP_025002. FT VAR_SEQ 1 399 Missing (in isoform 4). FT /FTId=VSP_025003. FT VAR_SEQ 1 378 Missing (in isoform 2). FT /FTId=VSP_025004. FT VAR_SEQ 379 413 LRQFWFQGNRYRKCTDWWCQPMAQLEALWKKMEGV -> ME FT WRKVSECNSVEPCREVKKWPYRCIHHGKNFSRM (in FT isoform 2). FT /FTId=VSP_025005. FT VAR_SEQ 446 455 QNLRREWHAR -> MACQGREECW (in isoform 3). FT /FTId=VSP_025006. FT VARIANT 405 405 A -> V (in dbSNP:rs16952624). FT /FTId=VAR_032078. FT CONFLICT 316 316 R -> W (in Ref. 1; BAB21843 and 3; FT AAH03583/AAH30798/AAI32893). SQ SEQUENCE 505 AA; 58282 MW; 3498A92C6E6D81B1 CRC64; MKRTPTAEER EREAKKLRLL EELEDTWLPY LTPKDDEFYQ QWQLKYPKLI LREASSVSEE LHKEVQEAFL TLHKHGCLFR DLVRIQGKDL LTPVSRILIG NPGCTYKYLN TRLFTVPWPV KGSNIKHTEA EIAAACETFL KLNDYLQIET IQALEELAAK EKANEDAVPL CMSADFPRVG MGSSYNGQDE VDIKSRAAYN VTLLNFMDPQ KMPYLKEEPY FGMGKMAVSW HHDENLVDRS AVAVYSYSCE GPEEESEDDS HLEGRDPDIW HVGFKISWDI ETPGLAIPLH QGDCYFMLDD LNATHQHCVL AGSQPRFSST HRVAECSTGT LDYILQRCQL ALQNVCDDVD NDDVSLKSFE PAVLKQGEEI HNEVEFEWLR QFWFQGNRYR KCTDWWCQPM AQLEALWKKM EGVTNAVLHE VKREGLPVEQ RNEILTAILA SLTARQNLRR EWHARCQSRI ARTLPADQKP ECRPYWEKDD ASMPLPFDLT DIVSELRGQL LEAKP //