ID:GFPT1_HUMAN DESCRIPTION: RecName: Full=Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1; EC=2.6.1.16; AltName: Full=D-fructose-6-phosphate amidotransferase 1; AltName: Full=Glutamine:fructose-6-phosphate amidotransferase 1; Short=GFAT 1; Short=GFAT1; AltName: Full=Hexosephosphate aminotransferase 1; FUNCTION: Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. CATALYTIC ACTIVITY: L-glutamine + D-fructose 6-phosphate = L- glutamate + D-glucosamine 6-phosphate. PATHWAY: Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D- glucosamine biosynthesis; alpha-D-glucosamine 6-phosphate from D- fructose 6-phosphate: step 1/1. SUBUNIT: Homotetramer (Potential). TISSUE SPECIFICITY: Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle. DISEASE: Defects in GFPT1 are the cause of myasthenia, congenital, with tubular aggregates, type 1 (CMSTA1) [MIM:610542]. A congenital myasthenic syndrome characterized by onset of proximal muscle weakness in the first decade. Individuals with this condition have a recognizable pattern of weakness of shoulder and pelvic girdle muscles, and sparing of ocular or facial muscles. EMG classically shows a decremental response to repeated nerve stimulation, a sign of neuromuscular junction dysfunction. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors. SIMILARITY: Contains 1 glutamine amidotransferase type-2 domain. SIMILARITY: Contains 2 SIS domains.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q06210
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006002 fructose 6-phosphate metabolic process GO:0006047 UDP-N-acetylglucosamine metabolic process GO:0006048 UDP-N-acetylglucosamine biosynthetic process GO:0006112 energy reserve metabolic process GO:0006487 protein N-linked glycosylation GO:0006541 glutamine metabolic process GO:0032922 circadian regulation of gene expression GO:0036498 IRE1-mediated unfolded protein response GO:0048511 rhythmic process GO:1901135 carbohydrate derivative metabolic process GO:1901137 carbohydrate derivative biosynthetic process
BioCyc Knowledge Library UDPNACETYLGALSYN-PWY - UDP-N-acetyl-D-glucosamine biosynthesis II
Reactome (by CSHL, EBI, and GO)
Protein Q06210 (Reactome details) participates in the following event(s):
R-HSA-449715 GFPT1,2 transfer an amino group from L-Gln to F6P to form GlcN6P R-HSA-381038 XBP1(S) activates chaperone genes R-HSA-381070 IRE1alpha activates chaperones R-HSA-446210 Synthesis of UDP-N-acetyl-glucosamine R-HSA-381119 Unfolded Protein Response (UPR) R-HSA-446219 Synthesis of substrates in N-glycan biosythesis R-HSA-392499 Metabolism of proteins R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein R-HSA-446203 Asparagine N-linked glycosylation R-HSA-597592 Post-translational protein modification
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
