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Reviewed, UniProtKB/Swiss-Prot Q9C0B1 (FTO_HUMAN)

Last modified March 2, 2010. Version 44. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
Protein fto
Alternative name(s):
Fat mass and obesity-associated protein
Gene names
Name:FTO
Synonyms:KIAA1752
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length505 AA.
Sequence statusComplete.
Protein existenceEvidence 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 diversityAlternative splicing
Polymorphism
   DiseaseObesity
   PTMAcetylation
   Technical termComplete proteome
Gene Ontology (GO)
   Biological processDNA 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 componentnucleus

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular functionDNA 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 505505Protein fto
PRO_0000286163

Amino acid modifications

Modified residue2161N6-acetyllysine Ref.7

Natural variations

Alternative sequence1 – 445445Missing in isoform 3.
VSP_025002
Alternative sequence1 – 399399Missing in isoform 4.
VSP_025003
Alternative sequence1 – 378378Missing in isoform 2.
VSP_025004
Alternative sequence379 – 41335LRQFW…KMEGV → MEWRKVSECNSVEPCREVKK WPYRCIHHGKNFSRM in isoform 2.
VSP_025005
Alternative sequence446 – 45510QNLRREWHAR → MACQGREECW in isoform 3.
VSP_025006
Natural variant4051A → V: dbSNP rs16952624.
VAR_032078

Experimental info

Sequence conflict3161R → W in BAB21843. Ref.1
Sequence conflict3161R → W in AAH03583. Ref.3
Sequence conflict3161R → W in AAH30798. Ref.3
Sequence conflict3161R → W in AAI32893. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 29, 2007. Version 3.
Checksum: 3498A92C6E6D81B1

FASTA50558,282
        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 

« Hide

Isoform 2.

Checksum: 5FA0B71723B0564B
Show »

FASTA12714,936
Isoform 3.

Checksum: 54A786243F09AF34
Show »

FASTA606,924
Isoform 4.

Checksum: AFE4D8E4F34B2F74
Show »

FASTA10612,218

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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.
IPIIPI00028277.
IPI00845224.
IPI00845477.
IPI00845501.
RefSeqNP_001073901.1.
UniGeneHs.528833

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

STRINGQ9C0B1.

Proteomic databases

PRIDEQ9C0B1.

Genome annotation databases

EnsemblENST00000471389; ENSP00000418823; ENSG00000140718; Homo sapiens. [Genome view]
GeneID79068.
KEGGhsa:79068.
NMPDRfig|9606.3.peg.12249.
UCSCuc002ehr.1. human.
uc010cbz.1. human.

Organism-specific databases

CTD79068.
GeneCardsGC16P052295.
H-InvDBHIX0013037.
HGNCHGNC:24678. FTO.
HPACAB017123.
MIM610966. gene.
Orphanet210144. Lethal polymalformative syndrome, Boissel type.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG05326.
HOGENOMHBG715650.
HOVERGENHBG101847.
InParanoidQ9C0B1.
OMAHGCLFRD.
OrthoDBEOG94TRV4.
PhylomeDBQ9C0B1.

Gene expression databases

ArrayExpressQ9C0B1.
BgeeQ9C0B1.
CleanExHS_FTO.
GenevestigatorQ9C0B1.

Family and domain databases

ProtoNetSearch...

Other Resources

NextBio67845.
SOURCESearch...

Entry information

Entry nameFTO_HUMAN
AccessionPrimary (citable) accession number: Q9C0B1
Secondary accession number(s): A2RUH1 expand/collapse secondary AC list , 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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
DisclaimerAny 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.

Relevant documents

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents