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FLASH GENE
Symbol PFKM contributors: mct/npt - updated : 22-09-2015
HGNC name phosphofructokinase, muscle
HGNC id 8877
Corresponding disease
GSD7 glycogen storage disease, type VII
Location 12q13.11      Physical location : 48.499.655 - 48.540.187
Synonym name
  • phosphofructokinase, polypeptide X
  • phosphohexokinase
  • 6-phosphofructokinase, muscle type
    • Synonym symbol(s) PFKX, PFK-1, GSD7, MGC8699
    EC.number 2.7.1.11
    DNA
    TYPE functioning gene
    STRUCTURE 26.86 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure at least two promoter regions
    MAPPING cloned Y linked Y status provisional
    Map pter - D12S345 - cen - D12S85 - PFKM - D12S361 - D12S347 - D12S368 - D12S390 - D12S96 - qter
    Authors Howard (96)
    regionally located previously assigned to chr 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 3234 85 780 - Yamada (2004)
    - - 3536 - 851 - Yamada (2004)
    - - 3088 - 780 - Yamada (2004)
    - - 3177 - 780 - Yamada (2004)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveintestinesmall intestine   
    Gustatory (taste)tongue   highly
    Nervousbrain   highly
    Reproductivemale systemtestis   
    Respiratorylung    
    Skin/Tegumentskin    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscular    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer tetramer
    HOMOLOGY
    Homologene
    FAMILY
  • phosphofructokinase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • rate-limiting enzyme in glycolysis
  • muscle isoform of phosphofructokinase (PFK), which phosphorylates fructose-6-phosphate to fructose-1,6-bisphosphate, commiting glucose to glycolysis (Garcia 2009)
  • glycolytic efficiency, which is important for the survival of cancer cells, depends primarily on the preferential expression of PFKL over the PFKM and PFKP isoforms
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS coagulation/hemostasis
    PATHWAY
    metabolism energetic , monocarbon
    signaling
  • fructose metabolism
  • energy pathway
  • glucose metabolism
  • glycogen metabolism
    • a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, nucleotide,
  • Mg2+
  • ATP
    • protein
    cell & other
    REGULATION
    activated by ADP
    AMP
    fructose bisphosphate
    inhibited by ATP
    citrate
    ASSOCIATED DISORDERS
    corresponding disease(s) GSD7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Pfkm(-/-) mice had high lethality around weaning and reduced lifespan, because of the metabolic alterations (Garcia 2009)