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FLASH GENE
Symbol GFPT1 contributors: mct/npt/pgu - updated : 02-02-2022
HGNC name glutamine-fructose-6-phosphate transaminase 1
HGNC id 4241
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one type 2 glutamine amidotransferase domain
  • two SIS domains
  • C-terminal tail including the active site displays a rigid conformation
    • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to murine Gfpt1
    Homologene
    FAMILY
  • SIS family
  • GFAT subfamily
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • involved in regulating the availability of precursors for N and O-linked glycosylation of proteins
  • controls the flux of glucose into the hexosamine pathway
  • rate-limiting enzyme in the hexoamine biosynthetic pathway and plays an important role in type 2 diabetes
  • DPAGT1 and GFPT1 are required for protein glycosylation, which in turn is essential for correct protein folding and targeting
  • is a key rate-limiting enzyme in the hexosamine biosynthetic pathway providing building blocks for the glycosylation of proteins and lipids
  • likely critical role for muscle derived GFPT1 in the development of the neuromuscular junction (NMJ), neurotransmission, skeletal muscle integrity
  • controls the flux of glucose into the hexosamine-biosynthesis pathway that produces precursors for glycosylation of proteins
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    hexosamine biosynthesis pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GFPT1 phosphorylation by AMPK promotes VEGF-induced angiogenesis
    • cell & other
    REGULATION
    Other phosphorylation at Ser243 by PRKAB1 has an important role in the regulation of its enzymatic activity
    may be regulated by kinases other than PKA
    iron deficiency increased GFPT1 phosphorylation, which is a key enzyme in the glucosamine biosynthesis pathway and a target of 5' AMP-activated protein kinase (AMPK), leading to reduced GFPT1 enzymatic activity and consequently lower global O-GlcNAc modification in neuronal cells
    ASSOCIATED DISORDERS
    corresponding disease(s) CMSTA1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in pancreatic cancer samples compared to peri-tumor tissues, and positively associated with lymph node metastasis, pTNM stage and shorter overall survival (OS)
    Susceptibility
  • to insulin resistance of non-insulin dependent diabetes mellitus (minor role)
  • to diabetic nephropathy
    • Variant & Polymorphism SNP
  • 2 SNP increasing the risk of diabetic nephropathy
    • Candidate gene
    Marker
  • high GFPT1 expression is identified as an independent predictor of adverse clinical outcome in our small number of pancreatic cancer patients
    • Therapy target
    ANIMAL & CELL MODELS