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FLASH GENE
Symbol PKLR contributors: mct/npt - updated : 01-06-2009
HGNC name pyruvate kinase, liver and RBC
HGNC id 9020
RNA
TRANSCRIPTS type messenger
text with two isoforms, transcribed from a distinct promoter
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 splicing 3035 58.4 543 liver Kanno (1992)
  • also known as type L
  • using an alternate 5' exon as compared to variant 1
    • 11 splicing 3053 61.7 574 erythroytic Kanno (1992)
  • also known as type R
    		•
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Skin/Tegumentskin   moderately
    Urinarykidney   predominantly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to rattus Pklr (92.6 pc)
    homolog to murine Pklr (91.6 pc)
    Homologene
    FAMILY
  • pyruvate kinase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • catalyzing the production of phosphoenolpyruvate from pyruvate and ATP
  • plays an important role in the Tp53-mediated inhibition of translation under conditions of DNA damage (Yoon 2009)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate , energetic
    signaling
    final step of glycolysis
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
  • Mg2+
  • K+
    • protein TP53 target gene and plays an important role in the tumor-suppressor function of TP53 (Yoon 2009)
    cell & other
    REGULATION
    induced by TP53 in response to the stress of DNA damage, plays an important role in the tumor-suppressor function of TP53 (Yoon 2009)
    ASSOCIATED DISORDERS
    corresponding disease(s) PKLR , PYKH
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS