GFPT1

From Wikipedia, the free encyclopedia

Glutamine-fructose-6-phosphate transaminase 1

Identifiers

GFPT1; GFA; GFAT; GFAT1; GFAT1m; GFPT

External IDs

OMIM: 138292 MGI: 95698 HomoloGene: 68220

Gene ontology
Molecular Function:	• glutamine-fructose-6-phosphate transaminase (isomerizing) activity • sugar binding • transferase activity
Cellular Component:	• cytoplasm
Biological Process:	• carbohydrate metabolic process • fructose 6-phosphate metabolic process • energy reserve metabolic process • glutamine metabolic process • metabolic process • carbohydrate biosynthetic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_002056 (mRNA)
NP_002047 (protein)

NM_013528 (mRNA)
NP_038556 (protein)

Location

Chr 2: 69.41 - 69.47 Mb

Chr 6: 87.01 - 87.05 Mb

Pubmed search

[1]

[2]

Glutamine-fructose-6-phosphate transaminase 1, also known as GFPT1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: GFPT1 glutamine-fructose-6-phosphate transaminase 1.

[edit] Further reading

Schleicher ED, Weigert C (2001). "Role of the hexosamine biosynthetic pathway in diabetic nephropathy.". Kidney Int. Suppl. 77: S13-8. PMID 10997685.
McKnight GL, Mudri SL, Mathewes SL, et al. (1993). "Molecular cloning, cDNA sequence, and bacterial expression of human glutamine:fructose-6-phosphate amidotransferase.". J. Biol. Chem. 267 (35): 25208-12. PMID 1460020.
Traxinger RR, Marshall S (1991). "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. PMID 2037571.
Whitmore TE, Mudri SL, McKnight GL (1995). "Physical mapping of the human glutamine:fructose-6-phosphate amidotransferase gene (GFPT) to chromosome 2p13.". Genomics 26 (2): 422-3. PMID 7601477.
Zhou J, Neidigh JL, Espinosa R, et al. (1995). "Human glutamine: fructose-6-phosphate amidotransferase: characterization of mRNA and chromosomal assignment to 2p13.". Hum. Genet. 96 (1): 99-101. PMID 7607664.
Sayeski PP, Paterson AJ, Kudlow JE (1994). "The murine glutamine:fructose-6-phosphate amidotransferase-encoding cDNA sequence.". Gene 140 (2): 289-90. PMID 8144040.
Nerlich AG, Sauer U, Kolm-Litty V, et al. (1998). "Expression of glutamine:fructose-6-phosphate amidotransferase in human tissues: evidence for high variability and distinct regulation in diabetes.". Diabetes 47 (2): 170-8. PMID 9519709.
Oki T, Yamazaki K, Kuromitsu J, et al. (1999). "cDNA cloning and mapping of a novel subtype of glutamine:fructose-6-phosphate amidotransferase (GFAT2) in human and mouse.". Genomics 57 (2): 227-34. doi:10.1006/geno.1999.5785. PMID 10198162.
Chang Q, Su K, Baker JR, et al. (2000). "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. doi:10.1074/jbc.M001049200. PMID 10806197.
Niimi M, Ogawara T, Yamashita T, et al. (2001). "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. PMID 11587069.
DeHaven JE, Robinson KA, Nelson BA, Buse MG (2001). "A novel variant of glutamine: fructose-6-phosphate amidotransferase-1 (GFAT1) mRNA is selectively expressed in striated muscle.". Diabetes 50 (11): 2419-24. PMID 11679416.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
Weigert C, Friess U, Brodbeck K, et al. (2004). "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. doi:10.1007/s00125-003-1122-8. PMID 12802498.
Ng DP, Walker WH, Chia KS, et al. (2004). "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. PMID 14988277.
Elbein SC, Zheng H, Jia Y, et al. (2005). "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. doi:10.1016/j.ymgme.2004.05.004. PMID 15308130.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
Chou KC (2005). "Molecular therapeutic target for type-2 diabetes.". J. Proteome Res. 3 (6): 1284-8. doi:10.1021/pr049849v. PMID 15595739.
Weigert C, Thamer C, Brodbeck K, et al. (2005). "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. doi:10.1210/jc.2004-0058. PMID 15613432.
Burt D, Brodbeck K, Häring HU, et al. (2005). "Partial characterisation of the human GFAT promoter: effect of single nucleotide polymorphisms on promoter function.". Biochim. Biophys. Acta 1740 (1): 85-90. doi:10.1016/j.bbadis.2005.01.007. PMID 15878746.