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FLASH GENE
Symbol CHKB contributors: mct - updated : 20-10-2012
HGNC name choline kinase beta
HGNC id 1938
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