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FLASH GENE
Symbol PFKM contributors: mct/npt - updated : 12-12-2009
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)
    Physical map
    AMIGO2 12q13.11 amphoterin induced gene 2 MGC16044 12q13.11 hypothetical protein MGC16044 LOC387854 12 LOC387854 LOC387855 12 LOC387855 FLJ21908 12q13.11 hypothetical protein FLJ21908 P11 12q13.1 26 serine protease EPAC 12q13.1 Rap1 guanine-nucleotide-exchange factor directly activated by cAMP FLJ20489 12q13.11 hypothetical protein FLJ20489 HDAC7A 12q13.1 histone deacetylase 7A VDR 12q13.1 vitamin D (1,25- dihydroxyvitamin D3) receptor MGC5576 12q13.1 hypothetical protein MGC5576 COL2A1 12q13.1 collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) LOC283389 12q13.12 hypothetical gene supported by BC029593 SENP1 12q12-q13 hypothetical gene supported by BC029593 PFKM 12q13.1 phosphofructokinase, muscle ASB8 12q13.12 ankyrin repeat and SOCS box-containing 8 LOC390311 12 similar to prohibitin LOC387856 12 similar to expressed sequence AI836003 LOC121275 12q13.12 similar to Olfactory receptor 10AD1 LOC341567 12q13.12 HANP1 FLJ31295 12q13.12 hypothetical protein FLJ31295 LOC390312 12 similar to olfactory receptor MOR160-1 ANP32D 12p11.1 acidic (leucine-rich) nuclear phosphoprotein 32 family, member D MGC35033 12q13.12 hypothetical protein MGC35033 LOC341568 12q13.12 similar to seven transmembrane helix receptor LOC390313 12 similar to seven transmembrane helix receptor LALBA 12q13.1 lactalbumin, alpha- LOC121270 12q13.12 similar to olfactory receptor MOR122-1 FLJ20436 12q13.12 hypothetical protein FLJ20436 CCNT1 12q13.1 cyclin T1 LOC255411 12q13.12 hypothetical LOC255411 ADCY6 12q12-q13 adenylate cyclase 6 LOC390314 12 similar to Protein C20orf27 CACNB3 12q13 calcium channel, voltage-dependent, beta 3 subunit DDX23 12q13.12 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 RHO6 12q12-q13 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 NYD-SP28 12q13.12 NYD-SP28 protein FKBP11 12q13.2 FK506 binding protein 11, 19 kDa ARF3 12q13.1 ADP-ribosylation factor 3 WNT10B 12q13.1 wingless-type MMTV integration site family, member 10B
    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)
    • 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)