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FLASH GENE
Symbol CKMT1A contributors: mct - updated : 07-02-2018
HGNC name creatine kinase, mitochondrial 1A
HGNC id 31736
Location 15q15.3      Physical location : 43.985.083 - 43.991.419
Synonym name
  • acidic-type mitochondrial creatine kinase
  • creatine kinase, mitochondrial 1A (ubiquitous)
  • Synonym symbol(s) CKMT1, UMTCK, CKMT, U-MtCK, mia-CK, FLJ50967
    EC.number 2.7.3.2
    DNA
    TYPE functioning gene
    STRUCTURE 6.34 kb     10 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1879 - 417 - 2014 24522192
    10 - 1972 - 448 - 2014 24522192
    10 - 1733 - 448 - 2014 24522192
    9 - 1747 - 417 - 2014 24522192
    9 - 1731 - 259 - 2014 24522192
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadiposebrown highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer dimer , octamer
    HOMOLOGY
    Homologene
    FAMILY
  • creatine kinase isoenzyme family
  • ATP:guanido phosphotransferase family
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • involved in the transfer of high energy phosphate from mitochondria to the cytosolic carrier
  • inhibits apoptosis by suppressing the mitochondrial apoptotic pathway
  • is a key regulator of the permeability transition pore (PT-pore) through a complex that is distinct from the classical PT-pore
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text transport of high energy phosphate from mitochondria to cytosolic carrier
    PATHWAY
    metabolism energetic
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • cardiolipin
  • ankyrin repeat domains of ASB9 can associate with the substrate binding site of CMKT1A in a SOCS box-independent manner
  • MECOM promotes CKMT1A expression by repressing the myeloid differentiation regulator RUNX1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in gastric cancer
    tumoral     --over  
    is associated with a poor prognosis in breast cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • might serve as a tumor marker
  • Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    targeting CKMT1A is thus a promising therapeutic strategy for this MECOM-driven AML subtype that is highly resistant to current treatment regimens
    ANIMAL & CELL MODELS