RABBIT ANTI HUMAN FTO

GWB-A347AE

Polyclonal IgG

Two peptides designed to the N- and C-terminal regions of the human FTO gene.

Dioxygenase that repairs alkylated DNA and RNA by oxidative demethylation. Has highest activity towards single-stranded RNA containing 3-methyluracil followed by single-stranded DNA containing 3-methylthymine. Has low demethylase activity towards single-stranded DNA containing 1-methyladenine or 3-methylcytosine. Has no activity towards 1-methylguanine. Has no detectable activity towards double-stranded DNA. Requires molecular oxygen alpha-ketoglutarate and iron. Contributes to the regulation of the global metabolic rate energy expenditure and energy homeostasis. Contributes to the regulation of body size and body fat accumulation. Ref. 6Ref. 9Cofactor: Binds 1 Fe2+ ion per subunit. Ref. 9Enzyme regulationActivated by ascorbate. Inhibited by N-oxalylglycine fumarate and succinate By similarity. Ref. 9Subunit structureMonomer. May also exist as homodimer By similarity. Subcellular locationNucleus By similarity. Tissue specificityUbiquitously expressed with relatively high expression in adrenal glands and brain; especially in hypothalamus and pituitary. Ref. 4Ref. 5

At least one intronic variation within the gene predisposes to childhood and adult obesity. Involvement in diseaseDefects in FTO are the cause of growth retardation developmental delay coarse facies and early death (GRDDCFED) [MIM:612938]. The disease consists of a severe children multiple congenital anomaly syndrome with death by the age of 3 years. All affected individuals had postnatal growth retardation microcephaly severe psychomotor delay functional brain deficits and characteristic facial dysmorphism. In some patients structural brain malformations cardiac defects genital anomalies and cleft palate were also observed. Ref. 10Sequence similaritiesBelongs to the fto family. Biophysicochemical properties pH dependence:Optimum pH is 5. 5-6. Ref. 6Sequence cautionThe sequence BAB21843. 1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. [1] \" Molecular cloning and expression of a new member of the nerve growth factor receptor family that is characteristic for Hodgkin\' s disease. \" Duerkop H. Latza U. Hummel M. Eitelbach F. Seed B. Stein H. Cell 68:421-427(1992) [PubMed: 1310894] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG). Tissue: Lymphoid tissue. [2] \" Opposite effects of the CD30 ligand are not due to CD30 mutations: results from cDNA cloning and sequence comparison of the CD30 antigen from different sources. \" Jung W. Krueger S. Renner C. Gause A. Sahin U. Trumper L. Pfreundschuh M. Mol. Immunol. 31:1329-1334(1994) [PubMed: 7527901] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG). [3] \" A variant CD30 protein lacking extracellular and transmembrane domains is induced in HL-60 by tetradecanoylphorbol acetate and is expressed in alveolar macrophages. \" Horie R. Ito K. Tatewaki M. Nagai M. Aizawa S. Higashihara M. Ishida T. Inoue J. Takizawa H. Watanabe T. Blood 88:2422-2432(1996) [PubMed: 8839832] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT). [4] \" Structure of the Hodgkin\' s disease associated human CD30 gene and the influence of a microsatellite region on its expression in CD30+ cell lines. \" Durkop H. Oberbarnscheidt M. Latza U. Bulfone-Paus S. Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databasesCited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] ALTERNATIVE SPLICING (ISOFORM LONG). Tissue: Placenta. [5] NIEHS SNPs programSubmitted (DEC-2003) to the EMBL/GenBank/DDBJ databasesCited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] VARIANTS TYR-273 AND GLY-402. [6] \" The DNA sequence and biological annotation of human chromosome 1. \" Gregory S. G. Barlow K. F. McLay K. E. Kaul R. Swarbreck D. Dunham A. Scott C. E. Howe K. L. Woodfine K. Spencer C. C. A. Jones M. C. Gillson C. Searle S. Zhou Y. Kokocinski F. McDonald L. Evans R. Phillips K. Atkinson A. Cooper R. Jones C. Hall R. E. Andrews T. D. Lloyd C. Ainscough R. Almeida J. P. Ambrose K. D. Anderson F. Andrew R. W. Ashwell R. I. S. Aubin K. Babbage A. K. Bagguley C. L. Bailey J. Beasley H. Bethel G. Bird C. P. Bray-Allen S. Brown J. Y. Brown A. J. Buckley D. Burton J. Bye J. Carder C. Chapman J. C. Clark S. Y. Clarke G. Clee C. Cobley V. Collier R. E. Corby N. Coville G. J. Davies J. Deadman R. Dunn M. Earthrowl M. Ellington A. G. Errington H. Frankish A. Frankland J. French L. Garner P. Garnett J. Gay L. Ghori M. R. J. Gibson R. Gilby L. M. Gillett W. Glithero R. J. Grafham D. V. Griffiths C. Griffiths-Jones S. Grocock R. Hammond S. Harrison E. S. I. Hart E. Haugen E. Heath P. D. Holmes S. Holt K. Howden P. J. Hunt A. R. Hunt S. E. Hunter G. Isherwood J. James R. Johnson C. Johnson D. Joy A. Kay M. Kershaw J. K. Kibukawa M. Kimberley A. M. King A. Knights A. J. Lad H. Laird G. Lawlor S. Leongamornlert D. A. Lloyd D. M. Loveland J. Lovell J. Lush M. J. Lyne R. Martin S. Mashreghi-Mohammadi M. Matthews L. Matthews N. S. W. McLaren S. Milne S. Mistry S. Moore M. J. F. Nickerson T. O\' Dell C. N. Oliver K. Palmeiri A. Palmer S. A. Parker A. Patel D. Pearce A. V. Peck A. I. Pelan S. Phelps K. Phillimore B. J. Plumb R. Rajan J. Raymond C. Rouse G. Saenphimmachak C. Sehra H. K. Sheridan E. Shownkeen R. Sims S. Skuce C. D. Smith M. Steward C. Subramanian S. Sycamore N. Tracey A. Tromans A. Van Helmond Z. Wall M. Wallis J. M. White S. Whitehead S. L. Wilkinson J. E. Willey D. L. Williams H. Wilming L. Wray P. W. Wu Z. Coulson A. Vaudin M. Sulston J. E. Durbin R. M. Hubbard T. Wooster R. Dunham I. Carter N. P. McVean G. Ross M. T. Harrow J. Olson M. V. Beck S. Rogers J. Bentley D. R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] VARIANT ARG-297. [7] \" The status quality and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). \" The MGC Project TeamGenome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT). Tissue: Blood. [8] \" T cell receptor-dependent cell death of T cell hybridomas mediated by the CD30 cytoplasmic domain in association with tumor necrosis factor receptor-associated factors. \" Lee S. Y. Park C. G. Choi Y. J. Exp. Med. 183:669-674(1996) [PubMed: 8627180] [Abstract]Cited for: INTERACTION WITH TRAF1 AND TRAF2. [9] \" Binding sites of cytoplasmic effectors TRAF1 2 and 3 on CD30 and other members of the TNF receptor superfamily. \" Boucher L. -M. Marengere L. E. Lu Y. Thukral S. Mak T. W. Biochem. Biophys. Res. Commun. 233:592-600(1997) [PubMed: 9168896] [Abstract]Cited for: INTERACTION WITH TRAF3. [10] \" Cloning and characterization of a cDNA encoding the human homolog of tumor necrosis factor receptor-associated factor 5 (TRAF5). \" Mizushima S. Fujita M. Ishida T. Azuma S. Kato K. Hirai M. Otsuka M. Yamamoto T. Inoue J. Gene 207:135-140(1998) [PubMed: 9511754] [Abstract]Cited for: INTERACTION WITH TRAF5.