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Comments and Description Text from UniProtKB
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.
ModBase Predicted Comparative 3D Structure on Q06210
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