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FLASH GENE
Symbol CKM contributors: npt/mct - updated : 30-08-2010
HGNC name creatine kinase, muscle
HGNC id 1994
DNA
TYPE functioning gene
STRUCTURE 16.46 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
cytosine-phosphate-guanine/HTF
Binding site   enhancer   transcription factor
text structure
  • a conserved CArG site, an E box, and a GC-rich MPEX site, and the last two elements contribute to expression in both types of striated muscle
  • three CACCC boxes within the CKM enhancer and two flanking the MPEX sequence, and KLF3 binds positive elements in the MCK promoter (MPEX and CACCC boxes)
  • MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    text major isoform ma expressed in skeletal muscle, mb isoform expressed predominantly in cardiac muscle
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1620 43 381 - Hamburg (1990)
    EXPRESSION
    Rna function in both heart and brain but not placenta (Hamburg1990)
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   moderately
    Nervousbrain   moderately
    Respiratoryrespiratory tractlarynx  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies ortholog to rattus Ckm
    ortholog to murine Ckm
    homolog to zebrafish ckm
    Homologene
    FAMILY
  • atp:guanido phosphotransferase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    text
  • restricted to terminally differentiated striated muscle
  • basic FUNCTION
  • reversibly catalyzing the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate)
  • playing a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa
  • being an important serum marker for myocardial infarction
  • catalyzes the reversible transfer of the gamma phosphate from ATP to creatine forming the high energy compound creatine phosphate (Nuss 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text energy homeostasis
    PATHWAY
    metabolism energetic
    signaling
    a component
  • homodimerizing or heterodimerizing with CKB
  • (M and B are the type of subunit)
  • MM being the major form in skeletal muscle and myocardium
  • MB existing in myocardium
  • BB existing in many tissues, especially brain
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • interacting with KLF3 (likely that KLF3 serves as a positive regulator of muscle gene transcription)
  • physically interact with the slow skeletal muscle-type MYBPC1 (CKM binds to the C-terminal domains of MYBPC1, which is also the binding site of myosin)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    with Jun-D, myogenin, myosin, in muscle wasting of human cachexia (Ramamoorthy 2009)
    constitutional     --low  
    early down-regulation plays a major role in actin filament instability
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS