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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
    Physical map
    LOC391382 2 similar to F-box/LRR-repeat protein 12 (F-box and leucine-rich repeat protein 12) C1D 2p13-p12 similar to F-box/LRR-repeat protein 12 (F-box and leucine-rich repeat protein 12) LOC116143 2p13.3 hypothetical protein BC014022 LOC56902 2p13.3 putatative 28 kDa protein PPP3R1 2p16-p15 protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I) DKFZP566K1924 2p13.3 DKFZP566K1924 protein PLEK 2p14 pleckstrin LOC391383 2 similar to WD repeat domain 4 protein; WD repeat-containing protein 4 MGC47799 LOC391384 2 similar to KIAA0779 protein GPR73 2p14-p13.1 G protein-coupled receptor 73 KIAA0053 2p13.3 G protein-coupled receptor 73 BMP10 2p13.3 bone morphogenetic protein 10 LOC391385 2 similar to 18 kDa antrum mucosa protein; BRICHOS domain containing 1 GDDR 2p13.3 down-regulated in gastric cancer GDDR GKN1 2p13.3 gastrokine 1 ANTXR1 2p13.1 anthrax toxin receptor 1 GFPT1 2p13 glutamine-fructose-6-phosphate transaminase 1 HIRIP5 2p12 HIRA interacting protein 5 LOC388957 2 similar to expressed sequence C79663 LOC388958 2 hypothetical gene supported by AF090101 AAK1 2p24.3-p14 AP2 associated kinase 1 ANXA4 2p13 annexin A4 FLJ13057 2p13.3 hypothetical protein FLJ13057 similar to germ cell-less RY1 2p13.3 putative nucleic acid binding protein RY-1 MAD 2p12 MAX dimerization protein 1 FLJ25084 2p13.3 hypothetical protein FLJ25084 PCBP1 2p13-p12 poly(rC) binding protein 1 LOC151518 2p13.3 hypothetical LOC151518 MRPL36P1 2p13.2 hypothetical LOC151518 FLJ20558 2p13.3 hypothetical protein FLJ20558 TIA1 2p13 TIA1 cytotoxic granule-associated RNA binding protein PCYOX1 2p13.3 prenylcysteine oxidase 1 SNRPG 2p12 small nuclear ribonucleoprotein polypeptide G FLJ14668 2p13.3 hypothetical protein FLJ14668 TGFA 2p13 transforming growth factor, alpha ADD2 2p14-p13 adducin 2 (beta) CLECSF13 2p13.3 likely ortholog of mouse C-type (calcium dependent, carbohydrate recognition domain) lectin, superfamily member 13 CD207 2p13 CD207 antigen, langerin VAX2 2p13.3 ventral anterior homeobox 2 ATP6V1B1 2p13 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 1 (Renal tubular acidosis with deafness) FLJ12056 2p13.2 hypothetical protein FLJ12056 TEX261 2p13.2 testis expressed gene 261 LOC115131 2p13.2 similar to POSSIBLE GUSTATORY RECEPTOR CLONE PTE01 OR7E91P 2p12 olfactory receptor, family 7, subfamily E, member 91 pseudogene
    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