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FLASH GENE
Symbol CPT1B contributors: mct - updated : 28-01-2011
HGNC name carnitine palmitoyltransferase 1B (muscle)
HGNC id 2329
Location 22q13.33      Physical location : 51.007.290 - 51.017.096
Synonym name
  • carnitine O-palmitoyltransferase I, mitochondrial muscle isoform
  • carnitine palmitoyltransferase I-like protein
    • Synonym symbol(s) CPT1M, CPT1, M-CPTI, KIAA1670, FLJ55729, FLJ58750, MCCPT1
    EC.number 2.3.1.21
    DNA
    TYPE functioning gene
    STRUCTURE 9.81 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • peroxisome proliferator-activated receptor (PPAR) responsive element (PPRE) and a myocite-specific (MEF2) site that binds MEF2A and MEF2C
  • its promoter was found to be necessary for the tissue-specific hormonal and dietary regulation of the gene expression
    • MAPPING cloned Y linked N status confirmed
    Physical map
    PANX2 22q13.33 pannexin 2 PP2447 22q13.33 hypothetical protein PP2447 SELO 22q13.33 selenoprotein O TUBGCP6 22q13.31-q13.33 tubulin, gamma complex associated protein 6 HDAC10 22q13.31 histone deacetylase 10 MAPK12 22q13.33 mitogen-activated protein kinase 12 MAPK11 22q13.33 mitogen-activated protein kinase 11 PLXNB2 22q13.31-q13.33 plexin B2 KIAA0685 22q13.3 plexin B2 SBF1 22q13.33 SET binding factor 1 FLJ21135 ALDRL6 22q13.3 aldehyde reductase (aldose reductase) like 6 BC002942 22q13.33 hypothetical protein BC002942 384D8-2 22q13.33 hypothetical protein 384D8_6 SCO2 22q13.33 SCO cytochrome oxidase deficient homolog 2 (yeast) ECGF1 22q13.3 endothelial cell growth factor 1 (platelet-derived) LOC391341 22 similar to MGC52679 protein LOC113730 22q13.33 hypothetical protein BC009980 LOC388918 22 LOC388918 CHKL-CPT1B 22q13.33 choline kinase-like, carnitine palmitoyltransferase 1B (muscle) transcription unit CPT1B 22q13.3 carnitine palmitoyltransferase 1B (muscle) CHKL 22q13.33 choline kinase-like MAPK8IP2 22q13.2-q13.33 mitogen-activated protein kinase 8 interacting protein 2 ARSA 22q13.33 arylsulfatase A SHANK3 22q13-3 SH3 and multiple ankyrin repeat domains 3 ACR 22q13.33 acrosin LOC150417 22q13.33 u2 small nuclear ribonucleoprotein A' pseudogene RABL2B 22q13.33 RAB, member of RAS oncogene family-like 2B LOC284942 22q13.33 similar to RPL23AP7 protein
    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