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FLASH GENE
Symbol TPK1 contributors: mct - updated : 16-12-2011
HGNC name thiamin pyrophosphokinase 1
HGNC id 17358
DNA
TYPE functioning gene
STRUCTURE 384.11 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site
text structure
  • numerous putative transcription factor binding sites, which might be responsible for the ubiquitous expression
  • minimal region required for basal activity of the promoter, which was encoded in a sequence between -105 and +441 relative to the transcription start site, and importance of the Sp1 cis-element in regulating the TPK1 gene expression (
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2449 - 243 - 2005 16262001
    8 - 2302 - 194 - 2005 16262001
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   lowly
    Cardiovascularheart   moderately
    Digestiveintestinesmall intestine  highly
     liver   lowly
    Nervousbrain   lowly
    Reproductivemale systemtestis  highly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta, highly expressed
    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