GFPT1 explained

Glucosamine—fructose-6-phosphate aminotransferase isomerizing 1 is an enzyme that in humans is encoded by the GFPT1 gene.^{[1] [2]}

Glutamine-fructose-6-phosphate transaminase 1 is the first and rate-limiting enzyme of the hexosamine pathway. GFAT controls the flux of glucose into the hexosamine pathway and catalyzes the formation of glucosamine 6-phosphate.

Further reading

• Schleicher ED, Weigert C . Role of the hexosamine biosynthetic pathway in diabetic nephropathy . Kidney Int. Suppl. . 77 . S13–8 . 2001 . 10997685 . 10.1046/j.1523-1755.2000.07703.x. free .
• Traxinger RR, Marshall S . Coordinated regulation of glutamine:fructose-6-phosphate amidotransferase activity by insulin, glucose, and glutamine. Role of hexosamine biosynthesis in enzyme regulation . J. Biol. Chem. . 266 . 16 . 10148–54 . 1991 . 10.1016/S0021-9258(18)99202-1 . 2037571 . free .
• Whitmore TE, Mudri SL, McKnight GL . Physical mapping of the human glutamine:fructose-6-phosphate amidotransferase gene (GFPT) to chromosome 2p13 . Genomics . 26 . 2 . 422–3 . 1995 . 7601477 . 10.1016/0888-7543(95)80235-E .
• Zhou J . Human glutamine: fructose-6-phosphate amidotransferase: characterization of mRNA and chromosomal assignment to 2p13 . Hum. Genet. . 96 . 1 . 99–101 . 1995 . 7607664 . 10.1007/BF00214194 . vanc. Neidigh JL . Espinosa R . 3 . Lebeau . Michelle M. . McClain . Donald A. . 25484995 .
• Sayeski PP, Paterson AJ, Kudlow JE . The murine glutamine:fructose-6-phosphate amidotransferase-encoding cDNA sequence . Gene . 140 . 2 . 289–90 . 1994 . 8144040 . 10.1016/0378-1119(94)90560-6 .
• Nerlich AG . Expression of glutamine:fructose-6-phosphate amidotransferase in human tissues: evidence for high variability and distinct regulation in diabetes . Diabetes . 47 . 2 . 170–8 . 1998 . 9519709 . 10.2337/diabetes.47.2.170 . vanc. Sauer U . Kolm-Litty V . 3 . Wagner . E. . Koch . M. . Schleicher . E. D. .
• Oki T . cDNA cloning and mapping of a novel subtype of glutamine:fructose-6-phosphate amidotransferase (GFAT2) in human and mouse . Genomics . 57 . 2 . 227–34 . 1999 . 10198162 . 10.1006/geno.1999.5785 . vanc. Yamazaki K . Kuromitsu J . 3 . Okada . M . Tanaka . I .
• Chang Q . Phosphorylation of human glutamine:fructose-6-phosphate amidotransferase by cAMP-dependent protein kinase at serine 205 blocks the enzyme activity . J. Biol. Chem. . 275 . 29 . 21981–7 . 2000 . 10806197 . 10.1074/jbc.M001049200 . vanc. Su K . Baker JR . 3 . Yang . X . Paterson . AJ . Kudlow . JE . free.
• Niimi M . Identification of GFAT1-L, a novel splice variant of human glutamine: fructose-6-phosphate amidotransferase (GFAT1) that is expressed abundantly in skeletal muscle . J. Hum. Genet. . 46 . 10 . 566–71 . 2001 . 11587069 . 10.1007/s100380170022 . vanc. Ogawara T . Yamashita T . 3 . Yamamoto . Y. . Ueyama . A. . Kambe . T. . Okamoto . T. . Ban . T. . Tamanoi . H. . free .
• DeHaven JE, Robinson KA, Nelson BA, Buse MG . A novel variant of glutamine: fructose-6-phosphate amidotransferase-1 (GFAT1) mRNA is selectively expressed in striated muscle . Diabetes . 50 . 11 . 2419–24 . 2001 . 11679416 . 10.2337/diabetes.50.11.2419 . free .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Weigert C . Glutamine:fructose-6-phosphate aminotransferase enzyme activity is necessary for the induction of TGF-beta1 and fibronectin expression in mesangial cells . Diabetologia . 46 . 6 . 852–5 . 2004 . 12802498 . 10.1007/s00125-003-1122-8 . vanc. Friess U . Brodbeck K . 3 . Häring . H. U. . Schleicher . E. D. . free .
• Ng DP . Scrutiny of the glutamine-fructose-6-phosphate transaminase 1 (GFPT1) locus reveals conserved haplotype block structure not associated with diabetic nephropathy . Diabetes . 53 . 3 . 865–9 . 2004 . 14988277 . 10.2337/diabetes.53.3.865 . vanc. Walker WH . Chia KS . 3 . Choo . S. . Warram . J. H. . Krolewski . A. S. . free .
• Elbein SC . Molecular screening of the human glutamine-fructose-6-phosphate amidotransferase 1 (GFPT1) gene and association studies with diabetes and diabetic nephropathy . Mol. Genet. Metab. . 82 . 4 . 321–8 . 2005 . 15308130 . 10.1016/j.ymgme.2004.05.004 . vanc. Zheng H . Jia Y . 3 . Chu . Winston . Cooper . Judith J. . Hale . Terri . Zhang . Zhengxian .
• Gerhard DS . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Chou KC . Molecular therapeutic target for type-2 diabetes . J. Proteome Res. . 3 . 6 . 1284–8 . 2005 . 15595739 . 10.1021/pr049849v .
• Weigert C . The -913 G/A glutamine:fructose-6-phosphate aminotransferase gene polymorphism is associated with measures of obesity and intramyocellular lipid content in nondiabetic subjects . J. Clin. Endocrinol. Metab. . 90 . 3 . 1639–43 . 2005 . 15613432 . 10.1210/jc.2004-0058 . vanc. Thamer C . Brodbeck K . 3 . Guirguis . A . Machicao . F . Machann . J . Schick . F . Stumvoll . M . Fritsche . A . free .
• Burt D . Partial characterisation of the human GFAT promoter: effect of single nucleotide polymorphisms on promoter function . Biochim. Biophys. Acta . 1740 . 1 . 85–90 . 2005 . 15878746 . 10.1016/j.bbadis.2005.01.007 . vanc. Brodbeck K . Häring HU . 3 . Schleicher . Erwin D. . Weigert . Cora . free .

Notes and References

1. McKnight GL, Mudri SL, Mathewes SL, Traxinger RR, Marshall S, Sheppard PO, O'Hara PJ . Molecular cloning, cDNA sequence, and bacterial expression of human glutamine:fructose-6-phosphate amidotransferase . J Biol Chem . 267 . 35 . 25208–12 . Jan 1993 . 10.1016/S0021-9258(19)74026-5 . 1460020 . free .
2. Web site: Entrez Gene: GFPT1 glutamine-fructose-6-phosphate transaminase 1.