GFPT1
entrez
2673
canonical
uniprot
Q06210
canonical
ensembl
ENSG00000198380
resolver
ensp
ENSP00000349860
resolver
ensp
ENSP00000354347
resolver
ensp
ENSP00000625908
resolver
genesymbol
GFPT1
resolver
genesymbol_syn
GFAT
resolver
genesymbol_syn
GFPT
resolver
hgnc
HGNC:4241
resolver
uniprot
Q53QE6
resolver
uniprot
Q9BXF8
resolver
uniprot_entry
GFPT1_HUMAN
resolver
uniprot_sec
Q53QE6
resolver
uniprot_sec
Q9BXF8
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by UDP-GlcNAc. {ECO:0000269|PubMed:35229715}.
uniprot
proteins
amino_acid_sequence
MCGIFAYLNYHVPRTRREILETLIKGLQRLEYRGYDSAGVGFDGGNDKDWEANACKIQLIKKKGKVKALDEEVHKQQDMDLDIEFDVHLGIAHTRWATHGEPSPVNSHPQRSDKNNEFIVIHNGIITNYKDLKKFLESKGYDFESETDTETIAKLVKYMYDNRESQDTSFTTLVERVIQQLEGAFALVFKSVHFPGQAVGTRRGSPLLIGVRSEHKLSTDHIPILYRTARTQIGSKFTRWGSQGERGKDKKGSCNLSRVDSTTCLFPVEEKAVEYYFASDASAVIEHTNRVIFLEDDDVAAVVDGRLSIHRIKRTAGDHPGRAVQTLQMELQQIMKGNFSSFMQKEIFEQPESVVNTMRGRVNFDDYTVNLGGLKDHIKEIQRCRRLILIACGTSYHAGVATRQVLEELTELPVMVELASDFLDRNTPVFRDDVCFFLSQSGETADTLMGLRYCKERGALTVGITNTVGSSISRETDCGVHINAGPEIGVASTKAYTSQFVSLVMFALMMCDDRISMQERRKEIMLGLKRLPDLIKEVLSMDDEIQKLATELYHQKSVLIMGRGYHYATCLEGALKIKEITYMHSEGILAGELKHGPLALVDKLMPVIMIIMRDHTYAKCQNALQQVVARQGRPVVICDKEDTETIKNTKRTIKVPHSVDCLQGILSVIPLQLLAFHLAVLRGYDVDFPRNLAKSVTVE
uniprot
proteins
disease_involvement
DISEASE: Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS12 is 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 variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.6.1.16
uniprot
proteins
function
FUNCTION: Rate-limiting enzyme of the hexosamine biosynthetic pathway (HBP) that catalyzes the formation of glucosamine-6-phosphate from fructose-6-phosphate and glutamine, thereby controlling the flux of glucose into this pathway (PubMed:32019926, PubMed:35229715). Inhibited by UDP-N-acetylglucosamine (UDP-GlcNAc) through a feedback loop (PubMed:32019926, PubMed:35229715). Fine-tunes the metabolic fluctuations of UDP-GlcNAc and its impacts on hyaluronan synthesis during tissue remodeling (PubMed:26887390). Via control of the HPB, regulates the availability of precursors for N- and O-linked protein glycosylation and modulates peripheral clock oscillation (By similarity). {ECO:0000250|UniProtKB:P47856, ECO:0000269|PubMed:26887390, ECO:0000269|PubMed:32019926, ECO:0000269|PubMed:35229715}.
uniprot
proteins
mass_dalton
78806
uniprot
proteins
mutagenesis
MUTAGEN 325; /note="Q->A: Increased sensitivity to UDP-GlcNAc feedback inhibition. Reduced sensitivity to UDP-GlcNAc feedback inhibition; when associated with E-469."; /evidence="ECO:0000269|PubMed:32019926"; MUTAGEN 469; /note="G->E: No change in binding with UDP-GlcNAc. Drastically reduced sensitivity to UDP-GlcNAc feedback inhibition. Reduced sensitivity to UDP-GlcNAc feedback inhibition; when associated with A-325."; /evidence="ECO:0000269|PubMed:32019926"; MUTAGEN 479; /note="G->E: Loss of binding with UDP-GlcNAc and loss of UDP-GlcNAc feedback inhibition."; /evidence="ECO:0000269|PubMed:32019926
uniprot
proteins
pathway_participation
PATHWAY: Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; alpha-D-glucosamine 6-phosphate from D-fructose 6-phosphate: step 1/1. {ECO:0000269|PubMed:32019926}.
uniprot
proteins
pubmed
11679416
uniprot
proteins
pubmed
1460020
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19059404
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21310273
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26887390
uniprot
proteins
pubmed
32019926
uniprot
proteins
pubmed
35229715
uniprot
proteins
sequence_length
699
uniprot
proteins