Search results for GFPT1

Showing 13 results out of 14

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Protein (5 results from a total of 6)

Identifier: R-HSA-532216
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: GFPT1: Q06210
Identifier: R-HSA-4341665
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: GFPT1: Q06210
Identifier: R-HSA-4341671
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: GFPT1: Q06210
Identifier: R-HSA-4341655
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: GFPT1: Q06210
Identifier: R-HSA-4341662
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: GFPT1: Q06210

DNA Sequence (1 results from a total of 1)

Identifier: R-HSA-5642312
Species: Homo sapiens
Compartment: nucleoplasm
Primary external reference: ENSEMBL: ENSEMBL:ENSG00000198380

Reaction (3 results from a total of 3)

Identifier: R-HSA-1791088
Species: Homo sapiens
Compartment: nucleoplasm, cytosol
The GFPT1 gene is transcribed to yield mRNA and the mRNA is translated to yield protein.
Identifier: R-HSA-4085027
Species: Homo sapiens
Compartment: cytosol
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. GFPT1 and 2 are required for normal functioning of neuromuscular synaptic transmission. Defects in GFPT1 cause myasthenia, congenital, with tubular aggregates 1 (CMSTA1; MIM:610542), characterised by altered muscle fibre morphology and impaired neuromuscular junction development (Senderek et al. 2011). The missense mutations observed do not always result in significant reduction in enzyme activity, but biopsies show reduced amounts of GFPT1 protein suggesting increased turnover or defective translation (Senderek et al. 2011). Example mutations are R111C, W240*, D348Y, T15A and T147Qfs*61 (Senderek et al. 2011).
Identifier: R-HSA-449715
Species: Homo sapiens
Compartment: cytosol
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).

Set (2 results from a total of 2)

Identifier: R-HSA-4341668
Species: Homo sapiens
Compartment: cytosol
Identifier: R-HSA-532205
Species: Homo sapiens
Compartment: cytosol

Pathway (1 results from a total of 1)

Identifier: R-HSA-4085023
Species: Homo sapiens
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. GFPT1 and 2 are required for normal functioning of neuromuscular synaptic transmission. Defects in GFPT1 lead to myasthenia, congenital, with tubular aggregates 1 (CMSTA1; MIM:610542), characterised by altered muscle fibre morphology and impaired neuromuscular junction development. Sufferers of CMSTA1 show a good response to acetylcholinesterase inhibitors (Senderek et al. 2011). The missense mutations observed do not always result in significant reduction in enzyme activity, but biopsies show reduced amounts of GFPT1 protein suggesting increased turnover or defective translation (Senderek et al. 2011).

Icon (1 results from a total of 1)

Species: Homo sapiens
Curator: Bijay Jassal
Designer: Cristoffer Sevilla
GFPT1 icon
Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1.
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