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FLASH GENE
Symbol TKT contributors: npt/mct - updated : 04-07-2016
HGNC name transketolase
HGNC id 11834
Corresponding disease
CHDRSS congenital heart disease, mental retardation, short stature
WKS Wernicke-Korsakoff syndrome
Location 3p21.1      Physical location : 53.258.723 - 53.290.130
Synonym symbol(s) TKT1, TK, FLJ34765, HEL107, HEL-S-48
EC.number 2.2.1.1
DNA
TYPE functioning gene
STRUCTURE 31.41 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 2117 67.9 623 - 2010 20667822
15 - 2895 67.9 623 - 2010 20667822
15 - 2203 - 540 - 2010 20667822
     - 631 - 2010 20667822
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticthymus    
Endocrinepancreas    
 thyroid    
Nervousbrain    
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Lymphoid    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer homomer , dimer
HOMOLOGY
interspecies homolog to murine Tkt
Homologene
FAMILY
  • transketolase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • linking the pentose phosphate pathway with the glycolytic pathway
  • playing an important role in brain metabolism
  • may play a role in the prevention and therapy of diabetes, and cancer (Zhao 2009)
  • enzyme of nonoxidative branches of the pentose phosphate pathway (PPP) (Vizán 2009)
  • thiamin diphosphate (ThDP) and Ca2+ dependent enzyme that catalyzes the interketol transfer between ketoses and aldoses as part of the pentose phosphate pathway
  • may play a role in cancerogenesis
  • Ca(2+)-dependent enzyme that catalyzes the interketol transfer between ketoses and aldoses as part of the pentose phosphate pathway
  • key enzyme of the nonoxidative pentose phosphate pathway (PPP)
  • plays an important role in the proliferation of metastatic ovarian cancer cells
  • is an important enzyme of the pentose phosphate pathway (PPP), necessary for NADPH synthesis and nucleic acid synthesis and cell division
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component homodimer with two active sites that locate at the interface between the contacting monomers (Zhao 2009)
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • thiamine pyrophosphate
  • protein
  • AKT1 phosphorylation and regulation of TKT is a nodal point for amino acid control of purine synthesis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) WKS , CHDRSS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    in cases with diabetic neuropathy
    constitutional       loss of function
    in cases with alcoholic neuropathy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveovary
    ould be used as novel therapeutic target for advanced disease
    ANIMAL & CELL MODELS
    TKT-null mouse embryos are not viable and disruption of one TKT allele can cause growth retardation and preferential reduction of adipose tissue (Xu 2002)