Recombinant Human Glutamine--fructose-6-phosphate aminotransferase (GFPT1 GFAT GFPT)

1. high GFAT1 expression is identified as an independent predictor of adverse clinical outcome in our small number of pancreatic cancer patients, and the practical prognostic nomogram model may help clinicians in decision making and the design of clinical studies. PMID: 27996048
2. study reports nine new mutations of GFPT1 in limb-girdle congenital myasthenic syndrome (LG-CMS) PMID: 28712002
3. Findings indicate that GFAT1 functions as a novel suppressor of EMT and tumor metastasis in gastric cancer. PMID: 27509259
4. GNPDA1 siRNA induced GFAT2 which was hardly measurable in these cells under standard culture conditions, GNPDA2 siRNA increased GFAT1, and GFAT1 siRNA increased the expression of hyaluronan synthase 2 (HAS2). Silencing of GFAT1 stimulated GNPDA1 and GDPDA2, and inhibited cell migration. PMID: 26887390
5. High GFAT1 expression is associated with hepatocellular carcinoma. PMID: 28186970
6. mTORC2 responds to glutamine catabolite levels to modulate the hexosamine biosynthesis enzyme GFAT1, and is essential for proper expression and nuclear accumulation of the GFAT1 transcriptional regulator, Xbp1s. PMID: 27570073
7. GFAT1 phosphorylation by AMPK promotes VEGF-induced angiogenesis. PMID: 28008135
8. The AMPK-GFAT1 signaling axis serves as an important communication point between two nutrient-sensitive signaling pathways and is likely to play a significant role in controlling physiological processes in many other tissues. PMID: 28336748
9. Increased GFPT1 expression is associated with triple-negative breast cancer. PMID: 26715276
10. This study demonstrated that Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. PMID: 21975507
11. 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome PMID: 25765662
12. Two GFPT1 untranslated mutations may cause limb-girdle myasthenia by reducing GFPT1 expression and ultimately impairing protein glycosylation. PMID: 23488891
13. Mapping of the regulatory site of glucosamine-6P synthase identified critical residues necessary for catalysis. PMID: 24075873
14. Inhibition of GFPT1 enzymatic activity or siRNA silencing of GFPT1 expression resulted in reduced AChR expression. PMID: 23569079
15. The results found no correlation between end plate morphology and physiology or between genotype and phenotype in GFPT1-myasthenia. PMID: 23794683
16. GFPT1 is the key enzyme in the hexosamine biosynthesis pathway. Mutations in GFPT1 cause defective glycosylation in the proteins of the neuromuscular junction. PMID: 22987706
17. Downregulation of the GFPT1 is associated with neuromuscular transmission defect. PMID: 21310273
18. An increased concentration of wild-type GFAT in mesangial cells is enhanced both TGF-beta1 and fibronectin PMID: 12802498
19. Genetic variation in GFPT1 is unlikely to have a major impact on susceptibility to diabetic nephropathy. PMID: 14988277
20. Variants in the GFPT1 gene show suggestive evidence of an association with diabetic nephropathy among African-American individuals, and increased GFPT1 gene expression may characterize Caucasian subjects with diabetic nephropathy. PMID: 15308130
21. On the basis of the docking results, a binding pocket of human GFAT1 dimer for UDP-GlcNAc is defined. PMID: 15595739
22. two polymorphisms in the 5'-flanking region of GFAT, of which the -913 polymorphism seems to alter the risk for obesity and intramyocellular lipid accumulation in male subjects. PMID: 15613432
23. A novel single nucleotide polymorphism identified at position -1412 (G to C) had a functional effect on promoter activity and EMSA revealed specific binding of nuclear proteins to this region. PMID: 15878746
24. Testing for association of an +36T>C polymorphism in the glutamine: fructose-6-phosphate amidotransferase 1 gene and type 2 diabetes in Japanese and Caucasians. PMID: 17024311
25. These findings suggest for the first time that hGfat1 may be regulated by kinases other than PKA. PMID: 17941647
26. The first structures of the isomerase domain of the human GFAT in the presence of cyclic glucose-6-phosphate and linear glucosamine-6-phosphate was reported. PMID: 19059404
27. The phosphorylation of GFAT1 at Ser243 by AMPK has an important role in the regulation of the GFAT1 enzymatic activity. PMID: 19170765
28. A novel variant of glutamine: fructose-6-phosphate amidotransferase-1 (GFAT1) mRNA is selectively expressed in striated muscle. PMID: 11679416
29. expression profiles of GFAT1 mRNA in various human tissues using reverse transcriptase-polymerase chain reaction. The identification and cDNA cloning of a novel GFAT1 splice variant expressed abundantly in skeletal muscle and heart is reported. PMID: 11587069

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HGNC: 4241

OMIM: 138292

KEGG: hsa:2673

STRING: 9606.ENSP00000354347

UniGene: Hs.580300