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FLASH GENE
Symbol TPK1 contributors: mct - updated : 16-12-2011
HGNC name thiamin pyrophosphokinase 1
HGNC id 17358
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer homomer , dimer
HOMOLOGY
interspecies homolog to murine Tpk1
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
intracellular,nucleus
basic FUNCTION
  • catalysing phosphorylation of thiamin to thiamin pyrophosphate, an active enzyme cofactor
  • may have a role in placental diseases
  • transfers a pyrophosphate group from a nucleoside triphosphate, such as ATP, to the hydroxyl group of thiamine to produce thiamine pyrophosphate
  • essential enzyme cofactor required for the viability of all organisms
  • thiamine is taken up by specific transporters into the cell and converted to the active TPP by TPK1 in the cytosol from where it can be transported into mitochondria
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism vitamin
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TPK1D
    Susceptibility
  • to variability of birth weight
  • Variant & Polymorphism other
  • genomic variations in the fetal and maternal TPK1 gene could contribute to the variability of birth weight
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS