LOCUS       NP_001073901             505 aa            linear   PRI 28-APR-2025
DEFINITION  alpha-ketoglutarate-dependent dioxygenase FTO isoform 3 [Homo
            sapiens].
ACCESSION   NP_001073901 XP_051200
VERSION     NP_001073901.1
DBSOURCE    REFSEQ: accession NM_001080432.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 505)
  AUTHORS   Li,B., Wang,L., Du,M. and He,H.
  TITLE     FTO in oral diseases: Functions, mechanisms, and therapeutic
            potential
  JOURNAL   FASEB J 38 (20), e70115 (2024)
   PUBMED   39436191
  REMARK    GeneRIF: FTO in oral diseases: Functions, mechanisms, and
            therapeutic potential.
            Review article
REFERENCE   2  (residues 1 to 505)
  AUTHORS   Li,Q. and Mu,S.
  TITLE     FTO mediates the diabetic kidney disease progression through
            regulating the m6A modification of NLRP3
  JOURNAL   BMC Nephrol 25 (1), 345 (2024)
   PUBMED   39390397
  REMARK    GeneRIF: FTO mediates the diabetic kidney disease progression
            through regulating the m[6]A modification of NLRP3.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 505)
  AUTHORS   Shan,L., Tao,M., Zhang,W., Zhao,J.D., Liu,X.C., Fang,Z.H. and
            Gao,J.R.
  TITLE     Comprehensive analysis of the m6A demethylase FTO in endothelial
            dysfunction by MeRIP sequencing
  JOURNAL   Exp Cell Res 442 (2), 114268 (2024)
   PUBMED   39343042
  REMARK    GeneRIF: Comprehensive analysis of the m[6]A demethylase FTO in
            endothelial dysfunction by MeRIP sequencing.
REFERENCE   4  (residues 1 to 505)
  AUTHORS   Nabeel-Shah,S., Pu,S., Burke,G.L., Ahmed,N., Braunschweig,U.,
            Farhangmehr,S., Lee,H., Wu,M., Ni,Z., Tang,H., Zhong,G., Marcon,E.,
            Zhang,Z., Blencowe,B.J. and Greenblatt,J.F.
  TITLE     Recruitment of the m6A/m6Am demethylase FTO to target RNAs by the
            telomeric zinc finger protein ZBTB48
  JOURNAL   Genome Biol 25 (1), 246 (2024)
   PUBMED   39300486
  REMARK    GeneRIF: Recruitment of the m[6]A/m6Am demethylase FTO to target
            RNAs by the telomeric zinc finger protein ZBTB48.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 505)
  AUTHORS   Hussain,M., Waheed,A., Elahi,A. and Mustafa,G.
  TITLE     Fat Mass and Obesity-Related (FTO) Gene Variant Is a Predictor of
            CVD in T2DM Patients
  JOURNAL   J Diabetes Res 2024, 5914316 (2024)
   PUBMED   39257882
  REMARK    GeneRIF: Fat Mass and Obesity-Related (FTO) Gene Variant Is a
            Predictor of CVD in T2DM Patients.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 505)
  AUTHORS   Zeggini,E., Weedon,M.N., Lindgren,C.M., Frayling,T.M.,
            Elliott,K.S., Lango,H., Timpson,N.J., Perry,J.R., Rayner,N.W.,
            Freathy,R.M., Barrett,J.C., Shields,B., Morris,A.P., Ellard,S.,
            Groves,C.J., Harries,L.W., Marchini,J.L., Owen,K.R., Knight,B.,
            Cardon,L.R., Walker,M., Hitman,G.A., Morris,A.D., Doney,A.S.,
            McCarthy,M.I. and Hattersley,A.T.
  CONSRTM   Wellcome Trust Case Control Consortium (WTCCC)
  TITLE     Replication of genome-wide association signals in UK samples
            reveals risk loci for type 2 diabetes
  JOURNAL   Science 316 (5829), 1336-1341 (2007)
   PUBMED   17463249
  REMARK    Erratum:[Science. 2007 Aug 24;317(5841):1035-6]
REFERENCE   7  (residues 1 to 505)
  AUTHORS   Scott,L.J., Mohlke,K.L., Bonnycastle,L.L., Willer,C.J., Li,Y.,
            Duren,W.L., Erdos,M.R., Stringham,H.M., Chines,P.S., Jackson,A.U.,
            Prokunina-Olsson,L., Ding,C.J., Swift,A.J., Narisu,N., Hu,T.,
            Pruim,R., Xiao,R., Li,X.Y., Conneely,K.N., Riebow,N.L., Sprau,A.G.,
            Tong,M., White,P.P., Hetrick,K.N., Barnhart,M.W., Bark,C.W.,
            Goldstein,J.L., Watkins,L., Xiang,F., Saramies,J., Buchanan,T.A.,
            Watanabe,R.M., Valle,T.T., Kinnunen,L., Abecasis,G.R., Pugh,E.W.,
            Doheny,K.F., Bergman,R.N., Tuomilehto,J., Collins,F.S. and
            Boehnke,M.
  TITLE     A genome-wide association study of type 2 diabetes in Finns detects
            multiple susceptibility variants
  JOURNAL   Science 316 (5829), 1341-1345 (2007)
   PUBMED   17463248
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (residues 1 to 505)
  AUTHORS   Dina,C., Meyre,D., Gallina,S., Durand,E., Korner,A., Jacobson,P.,
            Carlsson,L.M., 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. and
            Froguel,P.
  TITLE     Variation in FTO contributes to childhood obesity and severe adult
            obesity
  JOURNAL   Nat Genet 39 (6), 724-726 (2007)
   PUBMED   17496892
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            GeneRIF: Association with obesity in adult and childre.
            Interestingly, this association receives clear confirmation under a
            Transmission Disequilibrium Test design which is robust to
            population stratification.
REFERENCE   9  (residues 1 to 505)
  AUTHORS   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., Smith,G.D., Hattersley,A.T.
            and McCarthy,M.I.
  TITLE     A common variant in the FTO gene is associated with body mass index
            and predisposes to childhood and adult obesity
  JOURNAL   Science 316 (5826), 889-894 (2007)
   PUBMED   17434869
  REMARK    GeneRIF: A genome-wide search for type 2 diabetes-susceptibility
            genes identified a common variant in the FTO gene that predisposes
            to diabetes through an effect on body mass index
            GeneRIF: Observational study and genome-wide association study of
            gene-disease association and gene-environment interaction. (HuGE
            Navigator)
REFERENCE   10 (residues 1 to 505)
  AUTHORS   Peters,T., Ausmeier,K. and Ruther,U.
  TITLE     Cloning of Fatso (Fto), a novel gene deleted by the Fused toes (Ft)
            mouse mutation
  JOURNAL   Mamm Genome 10 (10), 983-986 (1999)
   PUBMED   10501967
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA324897.1, AK096554.1,
            AB051539.1, BC001284.1, BC030798.1, U79260.1 and AC007347.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jan 18, 2007 this sequence version replaced XP_051200.6.
            
            Summary: This gene is a nuclear protein of the AlkB related
            non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily
            but the exact physiological function of this gene is not known.
            Other non-heme iron enzymes function to reverse alkylated DNA and
            RNA damage by oxidative demethylation. Studies in mice and humans
            indicate a role in nervous and cardiovascular systems and a strong
            association with body mass index, obesity risk, and type 2
            diabetes. [provided by RefSeq, Jul 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.127247.1,
                                           SRR1803614.160619.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000471389.6/ ENSP00000418823.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..505
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q12.2"
     Protein         1..505
                     /product="alpha-ketoglutarate-dependent dioxygenase FTO
                     isoform 3"
                     /EC_number="1.14.11.53"
                     /note="alpha-ketoglutarate-dependent dioxygenase FTO; fat
                     mass and obesity-associated protein; AlkB homolog 9; fat
                     mass and obesity associated; m6A(m)-demethylase FTO; tRNA
                     N1-methyl adenine demethylase FTO; mRNA
                     N(6)-methyladenosine demethylase FTO; mRNA
                     (2'-O-methyladenosine-N(6)-)-demethylase FTO; U6 small
                     nuclear RNA N(6)-methyladenosine-demethylase FTO; U6 small
                     nuclear RNA (2'-O-methyladenosine-N(6)-)-demethylase FTO;
                     intragenic FTO exon 9 containing transcript"
                     /calculated_mol_wt=58151
     Site            4
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9C0B1.3)"
     Region          32..327
                     /region_name="Fe2OG dioxygenase domain.
                     /evidence=ECO:0000269|PubMed:20376003"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0B1.3)"
     Region          36..325
                     /region_name="FTO_NTD"
                     /note="FTO catalytic domain; pfam12933"
                     /db_xref="CDD:463755"
     Region          213..224
                     /region_name="Loop L1, predicted to block binding of
                     double-stranded DNA or RNA.
                     /evidence=ECO:0000269|PubMed:20376003"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0B1.3)"
     Site            216
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9C0B1.3)"
     Region          329..498
                     /region_name="FTO_CTD"
                     /note="FTO C-terminal domain; pfam12934"
                     /db_xref="CDD:432887"
     CDS             1..505
                     /gene="FTO"
                     /gene_synonym="ALKBH9; BMIQ14; GDFD; IFEX9"
                     /coded_by="NM_001080432.3:30..1547"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS32448.1"
                     /db_xref="GeneID:79068"
                     /db_xref="HGNC:HGNC:24678"
                     /db_xref="MIM:610966"
ORIGIN      
        1 mkrtptaeer ereakklrll eeledtwlpy ltpkddefyq qwqlkypkli lreassvsee
       61 lhkevqeafl tlhkhgclfr dlvriqgkdl ltpvsrilig npgctykyln trlftvpwpv
      121 kgsnikhtea eiaaacetfl klndylqiet iqaleelaak ekanedavpl cmsadfprvg
      181 mgssyngqde vdiksraayn vtllnfmdpq kmpylkeepy fgmgkmavsw hhdenlvdrs
      241 avavysysce gpeeesedds hlegrdpdiw hvgfkiswdi etpglaiplh qgdcyfmldd
      301 lnathqhcvl agsqprfsst hrvaecstgt ldyilqrcql alqnvcddvd nddvslksfe
      361 pavlkqgeei hnevefewlr qfwfqgnryr kctdwwcqpm aqlealwkkm egvtnavlhe
      421 vkreglpveq rneiltaila sltarqnlrr ewharcqsri artlpadqkp ecrpywekdd
      481 asmplpfdlt divselrgql leakp
//
