Reviewed, UniProtKB/Swiss-Prot Q9C0B1 (FTO_HUMAN)

Names and origin

Protein names

Recommended name:
Protein fto

Alternative name(s):
Fat mass and obesity-associated protein

Gene names

Name:	FTO
Synonyms:	KIAA1752

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	505 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	The precise function of this protein remains to be determined.
Tissue specificity	Ubiquitously expressed, with relatively high expression in adrenal glands and brain; especially in hypothalamus and pituitary. Ref.4 Ref.5
Polymorphism	At least one intronic variation within the gene predisposes to childhood and adult obesity.
Sequence similarities	Belongs to the fto family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Obesity
PTM	Acetylation
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	DNA dealkylation Inferred from direct assay. Source: UniProtKB DNA demethylation Inferred from direct assay. Source: UniProtKB RNA repair Inferred from direct assay. Source: UniProtKB oxidative demethylation Inferred from direct assay. Source: UniProtKB
Cellular component	nucleus Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	DNA demethylase activity Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9C0B1-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9C0B1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-378: Missing.
     379-413: LRQFWFQGNRYRKCTDWWCQPMAQLEALWKKMEGV → MEWRKVSECNSVEPCREVKKWPYRCIHHGKNFSRM

Note: No experimental confirmation available.

Isoform 3 (identifier: Q9C0B1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-445: Missing.
     446-455: QNLRREWHAR → MACQGREECW

Note: No experimental confirmation available.

Isoform 4 (identifier: Q9C0B1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-399: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 505	505	Protein fto		PRO_0000286163
Amino acid modifications
	Modified residue	216	1	N6-acetyllysine Ref.7
Natural variations
	Alternative sequence	1 – 445	445	Missing in isoform 3.		VSP_025002
	Alternative sequence	1 – 399	399	Missing in isoform 4.		VSP_025003
	Alternative sequence	1 – 378	378	Missing in isoform 2.		VSP_025004
	Alternative sequence	379 – 413	35	LRQFW…KMEGV → MEWRKVSECNSVEPCREVKK WPYRCIHHGKNFSRM in isoform 2.		VSP_025005
	Alternative sequence	446 – 455	10	QNLRREWHAR → MACQGREECW in isoform 3.		VSP_025006
	Natural variant	405	1	A → V: dbSNP rs16952624.		VAR_032078
Experimental info
	Sequence conflict	316	1	R → W in BAB21843. Ref.1
	Sequence conflict	316	1	R → W in AAH03583. Ref.3
	Sequence conflict	316	1	R → W in AAH30798. Ref.3
	Sequence conflict	316	1	R → W in AAI32893. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 29, 2007. Version 3. Checksum: 3498A92C6E6D81B1	FASTA	505	58,282
	10 20 30 40 50 60 MKRTPTAEER EREAKKLRLL EELEDTWLPY LTPKDDEFYQ QWQLKYPKLI LREASSVSEE 70 80 90 100 110 120 LHKEVQEAFL TLHKHGCLFR DLVRIQGKDL LTPVSRILIG NPGCTYKYLN TRLFTVPWPV 130 140 150 160 170 180 KGSNIKHTEA EIAAACETFL KLNDYLQIET IQALEELAAK EKANEDAVPL CMSADFPRVG 190 200 210 220 230 240 MGSSYNGQDE VDIKSRAAYN VTLLNFMDPQ KMPYLKEEPY FGMGKMAVSW HHDENLVDRS 250 260 270 280 290 300 AVAVYSYSCE GPEEESEDDS HLEGRDPDIW HVGFKISWDI ETPGLAIPLH QGDCYFMLDD 310 320 330 340 350 360 LNATHQHCVL AGSQPRFSST HRVAECSTGT LDYILQRCQL ALQNVCDDVD NDDVSLKSFE 370 380 390 400 410 420 PAVLKQGEEI HNEVEFEWLR QFWFQGNRYR KCTDWWCQPM AQLEALWKKM EGVTNAVLHE 430 440 450 460 470 480 VKREGLPVEQ RNEILTAILA SLTARQNLRR EWHARCQSRI ARTLPADQKP ECRPYWEKDD 490 500 ASMPLPFDLT DIVSELRGQL LEAKP
	Isoform 2. Checksum: 5FA0B71723B0564B	FASTA	127	14,936
	10 20 30 40 50 60 MEWRKVSECN SVEPCREVKK WPYRCIHHGK NFSRMTNAVL HEVKREGLPV EQRNEILTAI 70 80 90 100 110 120 LASLTARQNL RREWHARCQS RIARTLPADQ KPECRPYWEK DDASMPLPFD LTDIVSELRG QLLEAKP
	Isoform 3. Checksum: 54A786243F09AF34	FASTA	60	6,924
	10 20 30 40 50 60 MACQGREECW CQSRIARTLP ADQKPECRPY WEKDDASMPL PFDLTDIVSE LRGQLLEAKP
	Isoform 4. Checksum: AFE4D8E4F34B2F74	FASTA	106	12,218
	10 20 30 40 50 60 MAQLEALWKK MEGVTNAVLH EVKREGLPVE QRNEILTAIL ASLTARQNLR REWHARCQSR 70 80 90 100 IARTLPADQK PECRPYWEKD DASMPLPFDL TDIVSELRGQ LLEAKP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O. DNA Res. 7:347-355(2000) [PubMed: 11214970] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A. Nature 432:988-994(2004) [PubMed: 15616553] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. Tissue: Brain.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4). Tissue: Cervix, Eye and Lung.
[4]	"Variation in FTO contributes to childhood obesity and severe adult obesity." Dina C., Meyre D., Gallina S., Durand E., Korner A., Jacobson P., Carlsson L.M.S., Kiess W., Vatin V., Lecoeur C., Delplanque J., Vaillant E., Pattou F., Ruiz J., Weill J., Levy-Marchal C., Horber F., Potoczna N. , Hercberg S., Le Stunff C., Bougneres P., Kovacs P., Marre M., Balkau B., Cauchi S., Chevre J.-C., Froguel P. Nat. Genet. 39:724-726(2007) [PubMed: 17496892] [Abstract] Cited for: INVOLVEMENT IN PREDISPOSITION OF OBESITY, TISSUE SPECIFICITY.
[5]	"A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity." Frayling T.M., Timpson N.J., Weedon M.N., Zeggini E., Freathy R.M., Lindgren C.M., Perry J.R., Elliott K.S., Lango H., Rayner N.W., Shields B., Harries L.W., Barrett J.C., Ellard S., Groves C.J., Knight B., Patch A.M., Ness A.R. , Ebrahim S., Lawlor D.A., Ring S.M., Ben-Shlomo Y., Jarvelin M.-R., Sovio U., Bennett A.J., Melzer D., Ferrucci L., Loos R.J., Barroso I., Wareham N.J., Karpe F., Owen K.R., Cardon L.R., Walker M., Hitman G.A., Palmer C.N., Doney A.S., Morris A.D., Davey-Smith G., Hattersley A.T., McCarthy M.I. Science 316:889-894(2007) [PubMed: 17434869] [Abstract] Cited for: INVOLVEMENT IN PREDISPOSITION OF OBESITY, TISSUE SPECIFICITY.
[6]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[7]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-216, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB051539 mRNA. Translation: BAB21843.1. Different initiation. AC007347 Genomic DNA. No translation available. AC007496 Genomic DNA. No translation available. AC007909 Genomic DNA. No translation available. BC003583 mRNA. Translation: AAH03583.1. BC030798 mRNA. Translation: AAH30798.1. BC132892 mRNA. Translation: AAI32893.1. BC137091 mRNA. Translation: AAI37092.1.
IPI	IPI00028277. IPI00845224. IPI00845477. IPI00845501.
RefSeq	NP_001073901.1.
UniGene	Hs.528833
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q9C0B1.
Proteomic databases
PRIDE	Q9C0B1.
Genome annotation databases
Ensembl	ENST00000471389; ENSP00000418823; ENSG00000140718; Homo sapiens. [Genome view]
GeneID	79068.
KEGG	hsa:79068.
NMPDR	fig|9606.3.peg.12249.
UCSC	uc002ehr.1. human. uc010cbz.1. human.
Organism-specific databases
CTD	79068.
GeneCards	GC16P052295.
H-InvDB	HIX0013037.
HGNC	HGNC:24678. FTO.
HPA	CAB017123.
MIM	610966. gene.
Orphanet	210144. Lethal polymalformative syndrome, Boissel type.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG05326.
HOGENOM	HBG715650.
HOVERGEN	HBG101847.
InParanoid	Q9C0B1.
OMA	HGCLFRD.
OrthoDB	EOG94TRV4.
PhylomeDB	Q9C0B1.
Gene expression databases
ArrayExpress	Q9C0B1.
Bgee	Q9C0B1.
CleanEx	HS_FTO.
Genevestigator	Q9C0B1.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	67845.
SOURCE	Search...

Entry information

Entry name

FTO_HUMAN

Accession

Primary (citable) accession number: Q9C0B1
Secondary accession number(s): A2RUH1 , B2RNS0, Q0P676, Q7Z785

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 1, 2007
Last sequence update:	May 29, 2007
Last modified:	March 2, 2010
This is version 44 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.