TAILIEUCHUNG - Báo cáo khoa học: Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1

Human hypoxanthine-guanine phosphoribosyltransferase (HPRT) (EC ) catalyzes the conversion of hypoxanthine and guanine to their respective nucleoside monophosphates. Human HPRT deficiency as a result of genetic mutations is linked to both Lesch–Nyhan disease and gout. In the present study, we have characterized phosphoribosyltransferase domain containing protein 1 (PRTFDC1), a human HPRT homolog of unknown function. | Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1 Martin Welin1 Louise Egeblad2 Andreas Johansson1 Pal Stenmark1 f Liya Wang2 Susanne Flodin1 Tomas Nyman1 Lionel Tresaugues1 Tetyana Kotenyova1 Ida Johansson1 Staffan Eriksson2 Hans Eklund3 and Par Nordlund1 1 StructuralGenomics Consortium Department of MedicalBiochemistry and Biophysics Karolinska Institutet Stockholm Sweden 2 Department of Anatomy Physiology and Biochemistry Swedish University of AgriculturalSciences Uppsala Sweden 3 Department of Molecular Biology BiomedicalCenter Swedish University of AgriculturalSciences Uppsala Sweden Keywords characterization crystal structure homolog HPRT phosphoribosyltransferase PRTFDC1 Correspondence P. Nordlund or S. Eriksson Structural Genomics Consortium Department of Medical Biochemistry and Biophysics Karolinska Institutet S-17177 Stockholm Sweden Department of Anatomy Physiology and Biochemistry Swedish University of AgriculturalSciences Box 575 SE-75123 Uppsala Sweden Fax 46 8 524 868 50 46 18 55 0762 Tel 46 8 524 868 60 46 18 471 4187 E-mail These authors contributed equally to this work ỶPresent address Center for Biomembrane Research Department of Biochemistry and Biophysics Stockholm University Sweden Database Structural data are available in the Protein Data Bank under the accession number 2JBH Received 15 November 2009 revised 18 August 2010 accepted 30 September 2010 doi Human hypoxanthine-guanine phosphoribosyltransferase HPRT EC catalyzes the conversion of hypoxanthine and guanine to their respective nucleoside monophosphates. Human HPRT deficiency as a result of genetic mutations is linked to both Lesch-Nyhan disease and gout. In the present study we have characterized phosphoribosyltransferase domain containing protein 1 PRTFDC1 a human HPRT homolog of unknown function. The PRTFDC1 structure has been determined at

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