gfat-1 encodes two isoforms of glucosamine--fructose-6-phosphate aminotransferase (EC:2.6.1.16, also known as glutamine-fructose-6-phosphate transaminase), paralogous to GFAT-2; GFAT-1 is predicted to catalyze the first, and rate-limiting, step of the hexosamine pathway in which glucosamine-6-phosphate is synthesized from L-glutamine and fructose-6-phosphate and ultimately converted to UDP-N-acetylglucosamine (UDP-GlcNAc); gfat-1 gain-of-function mutations result in resistance to endoplasmic reticulum stress and increased longevity as a result of increased UDP-Hex-NAc levels accompanied by increased activity of protein quality control mechanisms such as ER-associated protein degradation (ERAD), proteasomal activity, and autophagy; gfat-1 is expressed in many larval and adult tissues, most prominently in epidermal seam cells and the pharynx, and gfat-1 transcripts are somewhat enriched during oogenesis; gfat-1(RNAi) animals have an osmotically-sensitive embryonic lethal phenotype, presumably because of defects in chitin and eggshell synthesis.
Predicted to enable glutamine-fructose-6-phosphate transaminase (isomerizing) activity. Involved in IRE1-mediated unfolded protein response. Expressed in tail. Used to study Machado-Joseph disease. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 12; obesity; and type 2 diabetes mellitus. Is an ortholog of human GFPT1 (glutamine--fructose-6-phosphate transaminase 1).
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.