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FLASH GENE
Symbol GFPT1 contributors: mct/npt/pgu - updated : 08-02-2010
HGNC name glutamine-fructose-6-phosphate transaminase 1
HGNC id 4241
Corresponding disease
CMSTA1 congenital myasthenic syndrome with tubular aggregates-1
Location 2p13.3      Physical location : 69.546.904 - 69.614.382
Synonym name
  • glutamine : fructose-6-phosphate amidotransferase-1
  • hexosephosphate aminotransferase 1
  • D-fructose-6-phosphate amidotransferase 1
  • Synonym symbol(s) GFA, GFPT, GFAT, GFAT1, GFAT1m
    EC.number 2.6.1.16
    DNA
    TYPE functioning gene
    STRUCTURE 67.48 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    motif
    text structure
  • multiple transcription start sites
  • a novel single nucleotide polymorphism identified at position -1412 (G to C) had a functional effect on promoter activity
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 8642 - 681 - 2007 17941647
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
     salivary gland   highly
    Endocrinepancreas   highly
    Reproductivemale systemtestis  highly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Connectiveadipose  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte
    Nervousastrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    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     intracellular
    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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    hexosamine biosynthesis pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    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
    ASSOCIATED DISORDERS
    corresponding disease(s) CMSTA1
    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
    Therapy target
    ANIMAL & CELL MODELS