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FLASH GENE
Symbol CPT1B contributors: mct - updated : 28-01-2011
HGNC name carnitine palmitoyltransferase 1B (muscle)
HGNC id 2329
RNA
TRANSCRIPTS type messenger
text two alternative spliced variants
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
19 - 2595 - 738 - 2002 12015320
23 - 2454 - 691 - 2002 12015320
19 - 2721 - 772 - 2002 12015320
19 - 2912 - 772 - 2002 12015320
19 - 2951 - 772 - 2002 12015320
20 - 2658 - 772 - 2002 12015320
20 - 2697 - 772 - 2002 12015320
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose   
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two transmembrane domains (2TM) separated by a short intermembrane space segment
  • large C teminal cytosolic domain responsible for the catalytic function
  • HOMOLOGY
    Homologene
    FAMILY
  • carnitine/choline acetyltransferase family
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • trans-esterification of medium and long chain fatty acyl,chains converting palmitoyl carnitine into palmitoyl-CoA (palmitoyl-CoA shuttle)
  • have a critical role in the heart, liver, and pancreatic beta-cells
  • regulates beta-oxidation, a pathway involved in regulating theta frequency during REM (rapid eye movement) sleep
  • key enzyme in the regulation of skeletal muscle mitochondrial beta-oxidation of long-chain fatty acids
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS mitochondrial transport
    PATHWAY
    metabolism energetic , lipid/lipoprotein
    signaling
    fatty acid beta oxidation pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    inhibited by hyperinsulinemia which shunts long chain fatty acids away from oxidation and toward storage in human muscle
    ASSOCIATED DISORDERS
    corresponding disease(s)
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in skeletal muscle is sufficient to enhance fatty acid oxidation and improve high-fat diet-induced insulin resistance
    Susceptibility
  • to narcolepsy
  • to skeletal muscle fat infiltration in Afro-Caribbean men
  • Variant & Polymorphism SNP , other
  • associated with narcolepsy
  • association between common nonsynonymous coding variants in CPT1B and ectopic skeletal muscle fat among middle-aged and older African ancestry men
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    diabete  
    potential targets for the treatment of metabolic disorders, including diabetes and coronary heart disease
    cardiovascularatheromacardiac
    potential targets for the treatment of metabolic disorders, including diabetes and coronary heart disease
    ANIMAL & CELL MODELS
    lethality of homozygous CPT-1b deficiency in the mice is consistent with paucity of human cases