Property Summary

NCBI Gene PubMed Count 71
PubMed Score 203.17
PubTator Score 208.31

Knowledge Summary


No data available


  Differential Expression (8)

Disease log2 FC p
psoriasis -3.000 5.2e-06
osteosarcoma -3.587 8.0e-09
group 4 medulloblastoma -1.700 5.6e-07
astrocytoma 1.200 5.5e-03
medulloblastoma, large-cell -1.900 2.9e-06
colon cancer -2.400 1.2e-02
ulcerative colitis -1.500 1.3e-07
ovarian cancer -1.100 7.0e-06

Protein-protein Interaction (3)

Gene RIF (58)

26808626 Methylation at 2 CpG sites in CPT1A on chromosome 11 was significantly associated with MetS. Significant associations were replicated in both European and African ancestry participants.
26716645 High CPT1A expression is associated with ovarian cancer.
26276667 Targeting the leukemia cell metabolism by the CPT1a inhibition
26110892 This large-scale epigenome-wide study discovered and replicated robust associations between DNA methylation at CpG loci and obesity indices
26041663 CPT1 is active on the outer surface of mitochondria and serves as a regulatory site for fatty acid oxidation due to its sensitivity for malonyl-CoA. CPT1a is the hepatic isoform.
25501281 The present study was designed to evaluate the involvement of hexokinase and CPT-1 in the cell growth and proliferation of human prostate cancer cell lines, PC3, and LNCaP-FGC-10.
25183267 CPT1A inhibition with RNAi resulted in triglyceride accumulation in HepG2 cells. The CPT1A promoter region was determined to contain two putative Sp1 binding sites, namely Sp1a and Sp1b, which might act as the GBE regulation response DNA element.
24920721 CPT1A methylation was strongly associated with fasting very-low low-density lipoprotein cholesterol and trigylcerides.
24618825 High grade glioblastoma is associated with increased level of ZFP57, a protein involved in gene imprinting, and aberrant expression of CPT1A and CPT1C.
24118240 The results suggest the generality of carnitine palmitoyltransferase-1 inhibition under various stress conditions associated with ROS generation, providing an insight into a mechanism for oxidative dysfunction in mitochondrial metabolism.
24037959 the structure of the regulatory domain of CPT1C was determined (residues Met1-Phe50) by NMR spectroscopy.
23992672 The association of the arctic variant of CPT1A with infectious disease outcomes in children between birth and 2.5 years of age suggests that this variant may play a role in the historically high incidence
23842279 HIV-1 Vpr enhances PPARbeta/delta-induced PDK4, carnitine palmitoyltransferase I (CPT1), and acetyl-coenzyme A acyltransferase 2 (ACAA2) mRNA expression in cells
23090344 The CPT1A p.P479L variant is common to some coastal BC First Nations, and homozygosity for this variant is associated with unexpected death in infancy
22871568 Exposure to all-trans RA (ATRA) up-regulated the expression of carnitine palmitoyl transferase-1 (CPT1-L) in HepG2 cells in a dose- and time-dependent manner.
22533991 we have identified CPT1A as a novel transcriptional target of PAX3-FKHR and revealed the novel function of CPT1A in promoting cell motility.
22278432 Data suggest that CPT1A, leptin receptor (LEPR), and insulin receptor (INSR) mRNA levels are higher in blood cells/blood from overweight children compared with normal weight children; INSR and CPT1A are increased only in males.
22045927 Our findings are consistent with the hypothesis that the L479 allele of the CPT1A P479L variant confers a selective advantage that is both cardioprotective (through increased HDL-cholesterol) and associated with reduced adiposity
21990363 an environment-dependent structural switch underlies the regulation of carnitine palmitoyltransferase 1A
21962599 carrier frequency of the c.1364A>C mutation of cpt1a in Finland is far lower than that of the variants found in Alaskan, Canadian, and Greenland native populations.
21763168 Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.
21484929 significant correlation between strong expression of CPT1A protein and poor outcome of ESCC patients
21348853 These studies identified a favourable role for CPT1A in adipocytes to attenuate fatty acid-evoked insulin resistance and inflammation via suppression of JNK.
20937660 Our data provide preliminary evidence that a highly prevalent CPT1A variant found among Alaska Native and other indigenous circumpolar populations may help explain historically high infant mortality rates.
20937660 Observational study of gene-disease association. (HuGE Navigator)
20877624 Observational study of gene-disease association. (HuGE Navigator)
20843525 The CPT1A c.1436C-->T variant is prevalent among some Alaska Native peoples, but newborn screening using current MS/MS cutoffs is not an effective means to identify homozygous infants
20843525 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
20696606 allele frequency and rate of homozygosity for the CPT1A P479L variant were high in Inuit and Inuvialuit who reside in northern coastal regions of Canada.
20696606 Observational study of genotype prevalence. (HuGE Navigator)
20691246 Data show PEPCK-C and CPT-1 mRNAs are more abundant in non-tumoral tissues than in the tumoral counterpart, whereas the opposite occurred for the FAS gene.
20638986 PPARalpha and PGC-1alpha stimulate transcription of the CPT-1A gene through different regions of CPT-1A gene.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20602615 Observational study of gene-disease association. (HuGE Navigator)
20124555 miR-370 acting via miR-122 may have a causative role in the accumulation of hepatic triglycerides by modulating initially the expression of SREBP-1c, DGAT2, and Cpt1alpha.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19460752 Knockdown of carnitine palmitoyltransferase 1A (CPT1A) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells
19217814 There is an astonishingly high frequency of CPT1 P479L variant and, judging from the enzyme analysis in the seven patients, also CPT-I deficiency in the areas of Canada inhabited by these families.
19181627 CPT1A p.P479L was associated with elevated plasma HDL and apoA-I levels. The association with increased levels of HDL and apoA-I suggest that the polymorphism might protect against atherosclerosis.
19181627 Observational study of gene-disease association. (HuGE Navigator)
18996102 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18385088 Accumulation of 3-hydroxylated intermediates of long-chain fatty acids may contribute to the pathogenesis of retinopathy in MTP deficiencies.
18253084 The peculiar localization of CPT1 in the nuclei of human carcinomas and the disclosed functional link between nuclear CPT1 and HDAC1 propose a new role of CPT1 in the histonic acetylation level of tumors.
17452323 structural analysis of two malonyl-CoA sites in carnitine palmitoyltransferase 1A
17445541 Observational study of gene-disease association. (HuGE Navigator)
17445541 neither haplotypes nor SNPs of CPT1A were found to be associated either with susceptibility to type 2 diabetes mellitus or with hepatic lipid content or insulin resistance in type 2 diabetic patients
17089095 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16697732 Observational study of gene-disease association. (HuGE Navigator)
16697732 Patient with chronic hepatitis C, carrying the CPT1A minor allele are at the decreased risk of developing advanced liver fibrosis.
16271724 a conserved functional PPAR responsive element downstream of the transcriptional start site of the human CPT1A gene is localized; this sequence is fundamental for fatty acids or PGC1-induced transcriptional activation of the CPT1A gene
16246309 This inducible expression system should be well suited to study the roles of CPT1 and fatty acid oxidation in lipotoxicity and metabolism in vivo.
15846373 tBid decreases CPT-1 activity by a mechanism independent of both malonyl-CoA, the key inhibitory molecule of CPT-1, and Bak and/or Bax, but dependent on cardiolipin decrease
15647998 Observational study of gene-disease association. (HuGE Navigator)
14517221 disease-causing CPT1A mutations can be divided into two categories depending on whether they affect directly or indirectly the active site of the enzyme
12464674 hyperglycemia with hyperinsulinemia increases malonyl-CoA, inhibits functional CPT-1 activity, and shunts long-chain fatty acids away from oxidation and toward storage in human muscle
12111367 Mutations 1079A>G and 2028+2delAAGT result in an autosomal recessive mitochondrial fatty acid oxidation disorder.
11095714 HIV-1 Vpr enhances PPARbeta/delta-induced PDK4, carnitine palmitoyltransferase I (CPT1), and acetyl-coenzyme A acyltransferase 2 (ACAA2) mRNA expression in cells
11001805 Human CPT1A, CPT1B, CPT2, CROT and CRAT are known to encode active carnitine acyltransferases. Earlier pfam annotations refer to the non-existing compound CARNITATE. In 2000 this has been changed to CARNITINE.

AA Sequence

SKK                                                                       771 - 773

Text Mined References (73)

PMID Year Title
26808626 2016 Association of DNA Methylation at CPT1A Locus with Metabolic Syndrome in the Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) Study.
26716645 2016 Carnitine palmitoyltransferase 1A functions to repress FoxO transcription factors to allow cell cycle progression in ovarian cancer.
26276667 2015 Targeting the leukemia cell metabolism by the CPT1a inhibition: functional preclinical effects in leukemias.
26110892 2015 Epigenome-wide study identifies novel methylation loci associated with body mass index and waist circumference.
26041663 2015 The Carnitine Palmitoyl Transferase (CPT) System and Possible Relevance for Neuropsychiatric and Neurological Conditions.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25501281 2015 Targeting prostate cancer cell metabolism: impact of hexokinase and CPT-1 enzymes.
25183267 2014 Flavonoid ingredients of Ginkgo biloba leaf extract regulate lipid metabolism through Sp1-mediated carnitine palmitoyltranferase 1A up-regulation.
24920721 2014 Epigenome-wide association study of fasting blood lipids in the Genetics of Lipid-lowering Drugs and Diet Network study.
24618825 2014 High grade glioblastoma is associated with aberrant expression of ZFP57, a protein involved in gene imprinting, and of CPT1A and CPT1C that regulate fatty acid metabolism.
24118240 2013 Metabolomics reveals that carnitine palmitoyltransferase-1 is a novel target for oxidative inactivation in human cells.
24037959 2014 Structural characterization of the regulatory domain of brain carnitine palmitoyltransferase 1.
23992672 2013 Association of a genetic variant of carnitine palmitoyltransferase 1A with infections in Alaska Native children.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23090344 2012 Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations.
22871568 2012 Induction of carnitine palmitoyl transferase 1 and fatty acid oxidation by retinoic acid in HepG2 cells.
22533991 2012 Carnitine palmitoyltransferase 1A (CPT1A): a transcriptional target of PAX3-FKHR and mediates PAX3-FKHR-dependent motility in alveolar rhabdomyosarcoma cells.
22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
22278432 2012 Blood cells as a source of transcriptional biomarkers of childhood obesity and its related metabolic alterations: results of the IDEFICS study.
22045927 2012 Genetic polymorphisms in carnitine palmitoyltransferase 1A gene are associated with variation in body composition and fasting lipid traits in Yup'ik Eskimos.
21990363 2011 An environment-dependent structural switch underlies the regulation of carnitine palmitoyltransferase 1A.
21962599 2012 Carrier frequency of a common mutation of carnitine palmitoyltransferase 1A deficiency and long-term follow-up in Finland.
21763168 2011 Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.
21492153 2011 Analysis of proteomic changes induced upon cellular differentiation of the human intestinal cell line Caco-2.
21484929 2011 Genomic alterations with impact on survival in esophageal squamous cell carcinoma identified by array comparative genomic hybridization.
21348853 2011 Carnitine palmitoyltransferase 1A prevents fatty acid-induced adipocyte dysfunction through suppression of c-Jun N-terminal kinase.
21269460 2011 Initial characterization of the human central proteome.
20937660 2010 Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20843525 2011 Prevalence and distribution of the c.1436C?T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants.
20696606 Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut.
20691246 2010 Down-regulation of the phosphoenolpyruvate carboxykinase gene in human colon tumors and induction by omega-3 fatty acids.
20638986 2010 Peroxisome proliferator activated receptor alpha (PPARalpha) and PPAR gamma coactivator (PGC-1alpha) induce carnitine palmitoyltransferase IA (CPT-1A) via independent gene elements.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20602615 2010 Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
20124555 2010 MicroRNA-370 controls the expression of microRNA-122 and Cpt1alpha and affects lipid metabolism.
19946888 2010 Defining the membrane proteome of NK cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19217814 2009 The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.
19181627 2009 Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I.
18996102 2009 Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.
18385088 2008 Carnitine palmitoyltransferase I and Acyl-CoA dehydrogenase 9 in retina: insights of retinopathy in mitochondrial trifunctional protein defects.
18253084 2007 Carnitine palmitoyltransferase I in human carcinomas: a novel role in histone deacetylation?
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17452323 2007 Definition by functional and structural analysis of two malonyl-CoA sites in carnitine palmitoyltransferase 1A.
17445541 2007 Lack of association of CPT1A polymorphisms or haplotypes on hepatic lipid content or insulin resistance in Japanese individuals with type 2 diabetes mellitus.
17089095 2007 Variants within the muscle and liver isoforms of the carnitine palmitoyltransferase I (CPT1) gene interact with fat intake to modulate indices of obesity in French-Canadians.
16806233 2007 Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects.
16697732 2006 Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16271724 2005 An intronic peroxisome proliferator-activated receptor-binding sequence mediates fatty acid induction of the human carnitine palmitoyltransferase 1A.
16246309 2005 CPT1alpha over-expression increases long-chain fatty acid oxidation and reduces cell viability with incremental palmitic acid concentration in 293T cells.
16054041 2005 AMP-activated protein kinase: ancient energy gauge provides clues to modern understanding of metabolism.
15846373 2005 tBid induces alterations of mitochondrial fatty acid oxidation flux by malonyl-CoA-independent inhibition of carnitine palmitoyltransferase-1.
15669684 2004 Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
15647998 2005 Haplotype analysis of carnitine transporters and left ventricular mass in human essential hypertension.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15110323 2004 Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
14711372 2004 Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal.
14517221 2003 Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12464674 2002 Malonyl coenzyme A and the regulation of functional carnitine palmitoyltransferase-1 activity and fat oxidation in human skeletal muscle.
12189492 2002 Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
12111367 2002 Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.
11441142 2001 Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.
11350182 2001 Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.
11257506 2001 Molecular enzymology of carnitine transfer and transport.
11001805 Genomics of the human carnitine acyltransferase genes.
10408760 1999 Expression and regulation of carnitine palmitoyltransferase-Ialpha and -Ibeta genes.
9691089 1998 Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.
9070950 1997 Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B).
9070836 1997 Direct interaction of the mitochondrial membrane protein carnitine palmitoyltransferase I with Bcl-2.
7892212 1995 Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene.