Reviewed, UniProtKB/Swiss-Prot Q9C0B1 (FATSO_HUMAN)

Names and origin

Protein names

Protein fatso
Also known as:
     Fat mass and obesity-associated protein

Gene names

Name:	FTO
Synonyms:	KIAA1752

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein existence

Evidence at transcript 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.
Polymorphism	At least one intronic variation within the gene predisposes to childhood and adult obesity.
Miscellaneous	This protein was called 'Fatso' (Fto) due to the large size of its gene.
Sequence similarities	Belongs to the fatso family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Obesity
Gene Ontology (GO)
Biological process	determination of left/right symmetry Inferred from sequence or structural similarity. Source: HGNC embryonic limb morphogenesis Inferred from sequence or structural similarity. Source: HGNC
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
Notes: 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
Notes: No experimental confirmation available.

Isoform 4 (identifier: Q9C0B1-4)
The sequence of this isoform differs from the canonical sequence as follows:
     1-399: Missing.
Notes: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 505	505	Protein fatso
Natural variations
	Alternative sequence	1 – 445	445	Missing in isoform 3.
	Alternative sequence	1 – 399	399	Missing in isoform 4.
	Alternative sequence	1 – 378	378	Missing in isoform 2.
	Alternative sequence	379 – 413	35	LRQFW…KMEGV → MEWRKVSECNSVEPCREVKK WPYRCIHHGKNFSRM in isoform 2.
	Alternative sequence	446 – 455	10	QNLRREWHAR → MACQGREECW in isoform 3.
	Natural variant	405	1	A → V: dbSNP rs16952624.
Experimental info
	Sequence conflict	316	1	R → W in BAB21843. Ref.1
	Sequence conflict	316	1	R → W in AAH03583, AAH30798 and 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 [UniParc]. Checksum: 5FA0B71723B0564B		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 [UniParc]. Checksum: 54A786243F09AF34		60	6,924
	10 20 30 40 50 60 MACQGREECW CQSRIARTLP ADQKPECRPY WEKDDASMPL PFDLTDIVSE LRGQLLEAKP
	Isoform 4 [UniParc]. Checksum: AFE4D8E4F34B2F74		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.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
RefSeq	NP_001073901.1.
UniGene	Hs.528833
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000140718. Homo sapiens. [Contig view]
GeneID	79068.
KEGG	hsa:79068.
NMPDR	fig|9606.3.peg.12249.
Organism-specific databases
HGNC	HGNC:24678. FTO.
MIM	610966. gene.
HUGE	Search...
GenAtlas	Search...
GeneCards	Search...
GeneLynx	Search...
Phylogenomic databases
HOVERGEN	Q9C0B1.
Gene expression databases
ArrayExpress	Q9C0B1.
CleanEx	HS_FTO.
Family and domain databases
ProDom	Q9C0B1. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	Search...

Entry information

Entry name

FATSO_HUMAN

Accession

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

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 1, 2007
Last sequence update:	May 29, 2007
Last modified:	June 10, 2008
This is version 25 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)