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MGP001191

UniProt Annotations

Entry Information
Gene Nameglutamine--fructose-6-phosphate transaminase 1
Protein EntryGFPT1_HUMAN
UniProt IDQ06210
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; Synonyms=GFAT1m; IsoId=Q06210-1; Sequence=Displayed; Name=2; IsoId=Q06210-2; Sequence=VSP_007497;
Catalytic ActivityL-glutamine + D-fructose 6-phosphate = L- glutamate + D-glucosamine 6-phosphate.
DiseaseMyasthenic syndrome, congenital, with tubular aggregates, 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. {ECO:0000269|PubMed:21310273}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionControls 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. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1.
PathwayNucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D- glucosamine biosynthesis; alpha-D-glucosamine 6-phosphate from D- fructose 6-phosphate: step 1/1.
SimilarityContains 1 glutamine amidotransferase type-2 domain. {ECO:0000255|PROSITE-ProRule:PRU00609}.
SimilarityContains 2 SIS domains. {ECO:0000255|PROSITE- ProRule:PRU00797}.
SubunitHomotetramer (Probable), may also exist as homodimers. {ECO:0000269|PubMed:19059404}.
Tissue SpecificityIsoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle. {ECO:0000269|PubMed:11679416}.
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