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FLASH GENE
Symbol CPT1A contributors: mct - updated : 28-01-2015
HGNC name carnitine palmitoyltransferase 1A (liver)
HGNC id 2328
Corresponding disease
CPT1A carnitine palmitoyltransferase deficiency I A
Location 11q13.2      Physical location : 68.522.090 - 68.609.399
Synonym name carnitine O-palmitoyltransferase I, liver isoform
Synonym symbol(s) CPT1, CPT1-L, L-CPT1
EC.number 2.3.1.21
DNA
TYPE functioning gene
STRUCTURE 87.31 kb     19 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (CAAT box)
cytosine-phosphate-guanine/HTF
text structure alternative promoter
MAPPING cloned Y linked N status confirmed
Physical map
ALDH3B2 11q13 aldehyde dehydrogenase 3 family, member B2 RPL37P2 11q13 ribosomal protein L37 pseudogene 2 LOC132740 11q13.1 similar to unc-93 homolog B1; unc93 (C.elegans) homolog B; unc-93 related protein LOC390215 11 similar to seven transmembrane helix receptor OR7E11P 11q11 olfactory receptor, family 7, subfamily E, member 11 pseudogene LOC390216 11 similar to mannosyltransferase LOC158490 11q13.1 similar to hypothetical protein FLJ10661 LOC387785 11 LOC387785 LOC390217 11 similar to chromosome 11 open reading frame2; chromosome  11 open reading frame2 LOC341128 11q13.1 similar to seven transmembrane helix receptor UNC93B1 11q13 unc-93 homolog B1 (C. elegans) ALDH3B1 11q13 aldehyde dehydrogenase 3 family, member B1 NDUFS8 11q13 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) TCIRG1 11q13.4-q13.5 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3 CHK 11q13.1 choline kinase CGI-85 11q13 choline kinase C11orf24 11q13 chromosome 11 open reading frame 24 LRP5 11q13 low density lipoprotein receptor-related protein 5 C11orf23 11q13 chromosome 11 open reading frame 23 GAL 11q13.3-q13.5 galanin MTL5 11q13.2-q13.3 metallothionein-like 5, testis-specific (tesmin) CPT1A 11q13.1-q13.2 carnitine palmitoyltransferase 1A (liver) MRPL21 11q13.1 mitochondrial ribosomal protein L21 IGHMBP2 11q13.2-q13.4 immunoglobulin mu binding protein 2 MRGD 11 mas-related G protein-coupled MRGD MGC21621 11q13.1 G protein-coupled receptor MrgF TPCN2 11q13.1 two pore segment channel 2 LOC338694 11q13.2 hypothetical protein LOC338694 MYEOV 11q13.1 myeloma overexpressed gene (in a subset of t(11;14) positive multiple myelomas) LOC390218 11 similar to Interferon-induced transmembrane protein 3 (Interferon-inducible protein 1-8U) LOC220061 11q13.2 similar to proline rich antigen 2 CCND1 11q13.3 cyclin D1 (PRAD1: parathyroid adenomatosis 1) ORAOV1 11q13 oral cancer overexpressed 1 FGF19 11q13.1 fibroblast growth factor 19 FGF4 11q13.3 fibroblast growth factor 4 (heparin secretory transforming protein 1, Kaposi sarcoma oncogene) FGF3 11q13.3 fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
19 - 5260 88.3 773 - 1997 9070950
19 - 2671 - 756 - 1997 9070950
differing in the 3' UTR and has multiple coding region differences
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveliver   highly Homo sapiens
Endocrinepancreas    
Nervousbrain   lowly
Urinarykidney   highly
Visualeyeretina    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Connectivebone   
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
 fibroblast
VisualMuller cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two transmembrane domains (2TM)
  • a short intermembrane space segment
  • a regulatory domain, termed N, adopts an inhibitory and non-inhibitory state, Nalpha and Nbeta, respectively, which differ in their association with the C-terminal catalytic domain (CD)
  • large C teminal cytosolic domain responsible for the catalytic function
  • HOMOLOGY
    interspecies homolog to murine Cpt1a
    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
    text
  • in liver mitochondria exists as a hexamer but during preparation and storage of mitochondria the order of oligomerization is rapidly reduced to the trimer
  • basic FUNCTION
  • transesterification of medium and long fatty acyl chains generating palmitoylcarnitine and CoAsH (palmitoyl-CoA shuttle system)
  • controls the rate of entry of long-chain fatty acids into the mitochondrial matrix for beta-oxidation
  • have a critical role in the heart, liver, and pancreatic beta-cells
  • is a prime target to increase hepatic long-chain fatty acids (LCFA) beta-oxidation
  • catalyzes the first committed and regulated step in mitochondrial fatty acid oxidation, and forms hetero-oligomeric complexes of different molecular masses with ACSL1 and VDAC1 in the mitochondrial outer membrane
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS mitochondrial transport
    PATHWAY
    metabolism energetic , lipid/lipoprotein
    signaling
    fatty acid beta oxidation cycle
    a component
  • CPT1A forms hetero-oligomeric complexes with ACSL1 and VDAC1 and is part of an outer membrane fatty acid transfer complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • strong protein-protein interaction between CPT1A, ACSL1, and VDAC1
  • GHRL exerts its orexigenic action through regulation of hypothalamic AMP-activated protein kinase pathway, leading to a decline in malonyl-CoA levels and desinhibition CPT1A
  • PDCD1 promotes fatty acid beta-oxidation (FAO) of endogenous lipids by increasing expression of CPT1A, and inducing lipolysis as indicated by elevation of the lipase PNPLA2, the lipolysis marker glycerol and release of fatty acids
  • 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) CPT1A
    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
    constitutional       gain of function
    with moderate stimulation of fatty acid oxidation is sufficient to substantially reduce hepatic triglyceride levels accumulation
    Susceptibility to infant death
    Variant & Polymorphism other homozygozity for the c.1436C>T sequence variant, increasing infant mortality
    Candidate gene
    Marker
    Therapy target acting directly on the degree of its malonyl-CoA sensitivity may be a relevant strategy to prevent and/or correct hepatic steatosis
    SystemTypeDisorderPubmed
    cardiovascularatheromacardiac
    potential targets for the treatment of metabolic disorders, including diabetes and coronary heart disease
    diabete  
    potential targets for the treatment of metabolic disorders, including diabetes and coronary heart disease
    metabolismlipid 
    interventions that increase CPT1A activity could have potential benefits in the treatment of nonalcoholic fatty liver disease (NAFLD), hypertriglyceridemia
    ANIMAL & CELL MODELS