Property Summary

NCBI Gene PubMed Count 40
Grant Count 63
R01 Count 52
Funding $6,835,661.66
PubMed Score 563.37
PubTator Score 148.57

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q06210 Q53QE6 Q9BXF8
Symbols GFA
GFAT
GFPT
MSLG
CMS12
GFAT1
CMSTA1
GFAT 1
GFAT1m
GFPT1L

Gene

PANTHER Protein Class (2)

PDB

2V4M   2ZJ3   2ZJ4  

Gene RIF (24)

PMID Text
25765662 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome
24075873 Mapping of the regulatory site of glucosamine-6P synthase identified critical residues necessary for catalysis.
23794683 The results found no correlation between end plate morphology and physiology or between genotype and phenotype in GFPT1-myasthenia.
23569079 Inhibition of GFPT1 enzymatic activity or siRNA silencing of GFPT1 expression resulted in reduced AChR expression.
23488891 Two GFPT1 untranslated mutations may cause limb-girdle myasthenia by reducing GFPT1 expression and ultimately impairing protein glycosylation.
22987706 GFPT1 is the key enzyme in the hexosamine biosynthesis pathway. Mutations in GFPT1 cause defective glycosylation in the proteins of the neuromuscular junction.
21310273 Downregulation of the GFPT1 is associated with neuromuscular transmission defect.
20845477 Observational study of gene-disease association. (HuGE Navigator)
19170765 The phosphorylation of GFAT1 at Ser243 by AMPK has an important role in the regulation of the GFAT1 enzymatic activity.
19059404 The first structures of the isomerase domain of the human GFAT in the presence of cyclic glucose-6-phosphate and linear glucosamine-6-phosphate was reported.
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AA Sequence

MCGIFAYLNYHVPRTRREILETLIKGLQRLEYRGYDSAGVGFDGGNDKDWEANACKIQLIKKKGKVKALD      1 - 70
EEVHKQQDMDLDIEFDVHLGIAHTRWATHGEPSPVNSHPQRSDKNNEFIVIHNGIITNYKDLKKFLESKG     71 - 140
YDFESETDTETIAKLVKYMYDNRESQDTSFTTLVERVIQQLEGAFALVFKSVHFPGQAVGTRRGSPLLIG    141 - 210
VRSEHKLSTDHIPILYRTARTQIGSKFTRWGSQGERGKDKKGSCNLSRVDSTTCLFPVEEKAVEYYFASD    211 - 280
ASAVIEHTNRVIFLEDDDVAAVVDGRLSIHRIKRTAGDHPGRAVQTLQMELQQIMKGNFSSFMQKEIFEQ    281 - 350
PESVVNTMRGRVNFDDYTVNLGGLKDHIKEIQRCRRLILIACGTSYHAGVATRQVLEELTELPVMVELAS    351 - 420
DFLDRNTPVFRDDVCFFLSQSGETADTLMGLRYCKERGALTVGITNTVGSSISRETDCGVHINAGPEIGV    421 - 490
ASTKAYTSQFVSLVMFALMMCDDRISMQERRKEIMLGLKRLPDLIKEVLSMDDEIQKLATELYHQKSVLI    491 - 560
MGRGYHYATCLEGALKIKEITYMHSEGILAGELKHGPLALVDKLMPVIMIIMRDHTYAKCQNALQQVVAR    561 - 630
QGRPVVICDKEDTETIKNTKRTIKVPHSVDCLQGILSVIPLQLLAFHLAVLRGYDVDFPRNLAKSVTVE     631 - 699
//

Text Mined References (50)

PMID Year Title
25765662 2015 A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24075873 2014 Mapping the UDP-N-acetylglucosamine regulatory site of human glucosamine-6P synthase by saturation-transfer difference NMR and site-directed mutagenesis.
23794683 2013 GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.
23569079 2013 Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
23488891 2014 Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22987706 2012 Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21310273 2011 Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
More...