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FLASH GENE
Symbol CHKB contributors: mct - updated : 20-10-2012
HGNC name choline kinase beta
HGNC id 1938
Corresponding disease
MDC1E muscular dystrophy, congenital, 1E
Location 22q13.33      Physical location : 51.017.386 - 51.021.428
Synonym name choline kinase-like
Synonym symbol(s) CHKL, CHETK, EKB, CKEKB, EK, MDCMC, ChoKbeta
EC.number 2.7.1.32, 2.7.1.82
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem
text tightly linked to and upstream of CPT1B
STRUCTURE 4.04 kb     11 Exon(s)
MAPPING cloned Y linked N status provisional
regionally located 300 bp upstream CPT1, may be transcripted in an unique message
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 splicing 1648 45 395 - 2004 15003397
8 - 4914 13.4 127 - 2004 15003397
  • containing alternate segments in the coding region, causing a frameshift compared to variant 1
  • bicistronic transcript with the coding region of the carnitine palmitoyltransferase gene in the 3'end
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivemouthtongue  highly
     stomach   moderately
    Endocrineneuroendocrinepituitary  moderately
     parathyroid   predominantly
    Hearing/Equilibriumear   moderately
    Lymphoid/Immunespleen   moderately
    Nervousnerve   moderately
    Reproductivefemale systemplacenta  moderately
     male systemprostate  moderately
     male systemtestis  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  moderately
    Muscular   moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to rattus Chkb (85.6pc)
    ortholog to murine Chkb (86pc)
    homolog to C. elegans cka-1 (43.3pc)
    Homologene
    FAMILY
  • choline/ethanolamine kinase family
  • ChoK family of proteins
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • catalyzing the phosphorylation of choline to phosphocholine
  • catalyzing the phosphorylation of ethanolamine to phosphoethanolamine
  • involved in the metabolism of choline, a precursor of the rapid eye movement - and wake-regulating neurotransmitter acetylcholine
  • display an ethanolamine kinase role
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
  • being the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine
  • a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP binding
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MDC1E
    Susceptibility to narcolepsy
    Variant & Polymorphism SNP associated with narcolepsy
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • spontaneously occurring genomic deletion in murine Chkb results in neonatal bone deformity and hindlimb muscular dystrophy
  • loss-of-function mutation in the murine ortholog, Chkb, is reported to cause rostrocaudal muscular dystrophy (rmd), with abnormal mitochondrial morphology in rmd skeletal muscles that reflects altered phosphatidylcholine content in mitochondrial membranes, and selective autophagic elimination of mitochondria