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FLASH GENE
Symbol CKM contributors: npt/mct - updated : 30-08-2010
HGNC name creatine kinase, muscle
HGNC id 1994
Location 19q13.32      Physical location : 45.809.671 - 45.826.233
Synonym name creatine kinase-M
Synonym symbol(s) CKMM, M-CK, MCK, MM-CK
EC.number 2.7.3.2
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
    Physical map
    TOMM40 19q13 translocase of outer mitochondrial membrane 40 homolog (yeast) APOE 19q13.2 apolipoprotein E APOC1 19q13.2 apolipoprotein C-I APOC4 19q13.2 apolipoprotein C-IV APOC2 19q13.2 apolipoprotein C-II CLPTM1 19q13.2 cleft lip and palate associated transmembrane protein 1 RELB 19q13.32 v-rel reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3 (avian) SFRS16 19q13.3 splicing factor, arginine/serine-rich 16 (suppressor-of-white-apricot homolog, Drosophila) ZNF342 19q13.32 zinc finger protein 342 GEMIN7 19q13.32 gem (nuclear organelle) associated protein 7 EIF5AP3 19q13.2 eukaryotic translation initiation factor 5A pseudogene 3 LOC284352 19q13.32 hypothetical protein LOC284352 FLJ33600 19q13.32 FLJ33600 protein MGC2650 19q13.32 hypothetical protein MGC2650 LOC388552 19 similar to BC043666 protein XTP7 19q13.32 protein 7 transactivated by hepatitis B virus X antigen (HBxAg) MARK4 19q13.2 MAP/microtubule affinity-regulating kinase 4 CKM 19q13.2 creatine kinase, muscle LOC390943 19 similar to 40S ribosomal protein S16 KLC2L 19q13.3 similar to 40S ribosomal protein S16 ERCC2 19q13.3 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) RAI 19q13.32 RelA-associated inhibitor ASE-1 19q13.3 RelA-associated inhibitor ERCC1 19q13.3 excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) FOSB 19q13.3 FBJ murine osteosarcoma viral oncogene homolog B RTN2 19q13.3 reticulon 2 VASP 19q13.2-q13.3 vasodilator-stimulated phosphoprotein FLJ40125 19q13.32 hypothetical protein FLJ40125 OPA3 19q13.32 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) GPR4 19q13.3 G protein-coupled receptor 4 EML2 19q13.32 echinoderm microtubule associated protein like 2 GIPR 19q13.3 gastric inhibitory polypeptide receptor SNRPD2 19q13.2 small nuclear ribonucleoprotein D2 polypeptide 16.5kDa FLJ20084 19q13.32 hypothetical protein FLJ20084 20D7-FC4 LOC388553 19 LOC388553
    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