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FLASH GENE
Symbol CKMT1B contributors: mct - updated : 07-02-2018
HGNC name creatine kinase, mitochondrial 1B
HGNC id 1995
Location 15q15.3      Physical location : 43.885.251 - 43.891.603
Synonym name
  • acidic-type mitochondrial creatine kinase
  • creatine kinase, mitochondrial 1 (ubiquitous)
  • Synonym symbol(s) CKMT, CKMT1, UMTCK, Mia-CK
    EC.number 2.7.3.2
    DNA
    TYPE functioning gene
    STRUCTURE 6.35 kb     10 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1779 - 417 - 2014 24522192
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
    Nervousbrain   highly
    Reproductivefemale systemplacenta   
    Visualeye   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    HOMOLOGY
    Homologene
    FAMILY
  • ATP:guanido phosphotransferase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine
  • 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
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ankyrin repeat domains of ASB9 can associate with the substrate binding site of CKMT1A, CKMT1B in a SOCS box-independent manner
  • MECOM promotes CKMT1A, CKMT1B 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     --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, CKMT1B is thus a promising therapeutic strategy for this MECOM-driven AML subtype that is highly resistant to current treatment regimens
    ANIMAL & CELL MODELS