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FLASH GENE
Symbol TPK1 contributors: mct - updated : 16-12-2011
HGNC name thiamin pyrophosphokinase 1
HGNC id 17358
Corresponding disease
TPK1D thiamin pyrophosphokinase 1 deficiency
Location 7q35      Physical location : 144.149.042 - 144.533.146
Synonym name
  • placental protein 20
  • thiamine diphosphokinase
  • Synonym symbol(s) HTPK1, PP20
    EC.number 2.7.6.2
    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
    Physical map
    FLJ40722 7q35 hypothetical protein FLJ40722 MGC41943 7q35 hypothetical protein MGC41943 LOC392136 7 similar to Multifunctional protein ADE2 LOC392137 7 similar to 60S ribosomal protein L26 KIAA0738 7q35 similar to 60S ribosomal protein L26 LOC135948 7q35 similar to Olfactory receptor 2F2 (Olfactory receptor 7-1) (OR7-1) OR2F1 7q35 olfactory receptor, family 2, subfamily F, member 1 LOC346524 7q35 similar to olfactory receptor MOR257-3 LOC135946 7q35 similar to Olfactory receptor 6B1 (Olfactory receptor 7-3) (OR7-3) LOC135944 7q35 similar to olfactory receptor MOR261-13 LOC392138 7 similar to olfactory receptor MOR261-1 LOC346525 7q35 similar to Olfactory receptor 2A12 OR2A2P 7 olfactory receptor, family 2, subfamily A, member 2 pseudogene LOC135942 7q35 similar to seven transmembrane helix receptor LOC135941 7q35 similar to seven transmembrane helix receptor LOC392140 7 similar to seven transmembrane helix receptor LOC202861 7q35 similar to seven transmembrane helix receptor LOC389592 7 similar to hypothetical protein MGC41943 FLJ43692 7q35 FLJ43692 protein LOC392141 7 similar to Olfactory receptor 2A1 OR2A9P 7 olfactory receptor, family 2, subfamily A, member 9 pseudogene LOC389593 7 similar to Olfactory receptor 2A7 LOC392142 7 hypothetical gene supported by BC016940 LOC346528 7q35 similar to Olfactory receptor 2A1 ARHGEF5 7q33-q35 Rho guanine nucleotide exchange factor (GEF) 5 LOC135935 7q35 similar to OG-2 homeodomain protein-like; similar to U65067 (PID:g1575526) LOC392143 7 similar to peptidyl-Pro cis trans isomerase TPK1 7q34 thiamin pyrophosphokinase 1 LOC340312 7q35 similar to Importin alpha-2 subunit (Karyopherin alpha-2 subunit) (SRP1-alpha) (RAG cohort protein 1) LOC392144 7 similar to ribosomal protein L7
    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