GFPT1,2 transfer an amino group from L-Gln to F6P to form GlcN6P

Stable Identifier
R-HSA-449715
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Synonyms
Formation of glucosamine 6-phosphate from fructose 6-phosphate and glutamine
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Glucosamine-fructose 6-phosphate aminotransferases 1 and 2 (GFPT1,2) are the first and rate-limiting enzymes in the hexosamine synthesis pathway, and thus formation of hexosamines like N-acetylglucosamine (GlcNAc). These enzymes probably play a role in limiting the availability of substrates for the N- and O- linked glycosylation of proteins (McKnight et al. 1992, Oki et al. 1999). GFPT1 and 2 are required for normal functioning of neuromuscular synaptic transmission. Defects in GFPT1 lead to altered muscle fibre morphology and impaired neuromuscular junction development (Senderek et al. 2011).

Literature References
PubMed ID Title Journal Year
1460020 Molecular cloning, cDNA sequence, and bacterial expression of human glutamine:fructose-6-phosphate amidotransferase

McKnight, GL, Mudri, SL, Mathewes, SL, Traxinger, RR, Marshall, S, Sheppard, PO, O'Hara, PJ

J Biol Chem 1992
21310273 Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

Senderek, J, Müller, JS, Dusl, M, Strom, TM, Guergueltcheva, V, Diepolder, I, Laval, SH, Maxwell, S, Cossins, J, Krause, S, Muelas, N, Vilchez, JJ, Colomer, J, Mallebrera, CJ, Nascimento, A, Nafissi, S, Kariminejad, A, Nilipour, Y, Bozorgmehr, B, Najmabadi, H, Rodolico, C, Sieb, JP, Steinlein, OK, Schlotter, B, Schoser, B, Kirschner, J, Herrmann, R, Voit, T, Oldfors, A, Lindbergh, C, Urtizberea, A, von der Hagen, M, Hübner, A, Palace, J, Bushby, K, Straub, V, Beeson, D, Abicht, A, Lochmüller, H

Am J Hum Genet 2011
10198162 cDNA cloning and mapping of a novel subtype of glutamine:fructose-6-phosphate amidotransferase (GFAT2) in human and mouse

Oki, T, Yamazaki, K, Kuromitsu, J, Okada, M, Tanaka, I

Genomics 1999
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
glutamine-fructose-6-phosphate transaminase (isomerizing) activity of GFPT1,2 [cytosol]
Physical Entity
Activity
Orthologous Events
Authored
Reviewed
Created