Property Summary

NCBI Gene PubMed Count 48
PubMed Score 200.42
PubTator Score 183.92

Knowledge Summary


No data available


Protein-protein Interaction (1)

Gene RIF (32)

26080315 In subjects with PTSD, significant over-expression of CPT1B was also observed in the two common dysregulated pathways: fatty acid metabolism and PPAR.
26058865 Differential DNA methylation may underlie the depressed expression of CPT1B in response to lipid, contributing to the metabolic inflexibility associated with severe obesity.
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. CPT1b is the muscle isoform.
24905907 E531K substitution in CPT1B decreases the mitochondrial beta-oxidation pathway, which increases the non-protein respiratory quotient value during recovery from exercise.
24571861 study identified a novel haplotype consisting of the indel variation, which had not been detected in previous studies in Japanese and Korean populations, and observed four single-nucleotide polymorphisms in CHKB/CPT1B
23842279 HIV-1 Vpr enhances PPARbeta/delta-induced PDK4, carnitine palmitoyltransferase I (CPT1), and acetyl-coenzyme A acyltransferase 2 (ACAA2) mRNA expression in cells
23566841 CPT1B heterozygous variants of G320D and S427C among control subjects showed significantly higher levels of total and free carnitine in the blood compared to acute myocardial infarction patients.
22809552 present results confirm the association of carnitine palmitoyltransferase 1B coding polymorphisms with the metabolic syndrome
22538307 Genetic mutations causative for McArdle disease, carnitine palmitoyl transferase deficiency 2, myoadenylate deaminase deficiency, and malignant hyperthermia have all been associated with Exertional rhabdomyolysis.
22177342 The study extends on the observation of a strong multiethnic association of polymorphisms in the TCRA and P2RY11 with narcolepsy, but does not confirm the association of CPT1B/CHKB (rs5770917) in the Chinese population.
21048031 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20877624 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19937377 C305 was replaceable with aspartic acid but that substitution with other amino acids caused both loss of function and reduced expression.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19553926 There is a novel association between common nonsynonymous coding variants in CPT1B and ectopic skeletal muscle fat among middle-aged and older African ancestry men.
19553926 Observational study of gene-disease association. (HuGE Navigator)
19404393 Japanese CNS hypersomnias (essential hypersomnia: EHS) other than narcolepsy with cataplexy was significantly associated with SNP rs5770917 (located between CPT1B and CHKB) and HLA-DRB1*1501-DQB1*0602 haplotype
19404393 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19074885 Observational study of gene-disease association. (HuGE Navigator)
18996102 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18820697 A single nucleotide polymorphism located between CPT1B and CHKB, was associated with narcolepsy in Japanese (rs5770917[C], odds ratio (OR) = 1.79, combined P = 4.4 x 10(-7)) and other ancestry groups (OR = 1.40, P = 0.02).
18820697 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18660489 Observational study of gene-disease association. (HuGE Navigator)
17987377 Three replacements of nucleotides resulting in missense mutations of I66V, S427C, and E531K were observed in the M-CPTI gene of patients showing abnormal fatty acid metabolism
17089095 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
15647998 Observational study of gene-disease association. (HuGE Navigator)
15579906 muscle carnitine palmitoyltransferase I has a single cysteine residue (Cys-305) important for catalysis
15356291 Transcriptional activation of the CPT1B promotor by peroxisome proliferator-activated receptors-alpha and myocyte-specific enhancer-binding-factor 2C.
12565845 Leucine-764 near the extreme C-terminal end of carnitine palmitoyltransferase I is important for enzyme activity.
12015320 Genetic analysis, comparison, and tissue distribution of CPT1b
11095714 HIV-1 Vpr enhances PPARbeta/delta-induced PDK4, carnitine palmitoyltransferase I (CPT1), and acetyl-coenzyme A acyltransferase 2 (ACAA2) mRNA expression in cells

AA Sequence

YS                                                                        771 - 772

Text Mined References (49)

PMID Year Title
26080315 2015 Mitochondria-focused gene expression profile reveals common pathways and CPT1B dysregulation in both rodent stress model and human subjects with PTSD.
26058865 2015 Differential epigenetic and transcriptional response of the skeletal muscle carnitine palmitoyltransferase 1B (CPT1B) gene to lipid exposure with obesity.
26041663 2015 The Carnitine Palmitoyl Transferase (CPT) System and Possible Relevance for Neuropsychiatric and Neurological Conditions.
25416956 2014 A proteome-scale map of the human interactome network.
24905907 2014 Carnitine palmitoyltransferase 1B 531K allele carriers sustain a higher respiratory quotient after aerobic exercise, but ?3-adrenoceptor 64R allele does not affect lipolysis: a human model.
24571861 2014 Identification of the variations in the CPT1B and CHKB genes along with the HLA-DQB1*06:02 allele in Turkish narcolepsy patients and healthy persons.
23969696 2013 Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
23566841 2013 Single nucleotide polymorphism in CPT1B and CPT2 genes and its association with blood carnitine levels in acute myocardial infarction patients.
22809552 2013 A common haplotype of carnitine palmitoyltransferase 1b is associated with the metabolic syndrome.
22538307 2012 Exertional rhabdomyolysis: a clinical review with a focus on genetic influences.
22177342 2012 TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy.
21048031 2011 Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20833797 2011 Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
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.
19937377 2010 Replacement of C305 in heart/muscle-type isozyme of human carnitine palmitoyltransferase I with aspartic acid and other amino acids.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19553926 2009 Association of the CPT1B gene with skeletal muscle fat infiltration in Afro-Caribbean men.
19404393 2009 Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).
19074885 2008 Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.
18996102 2009 Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.
18823527 2008 A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.
18820697 2008 Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.
18660489 2008 Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
17987377 2008 Substitutions of three amino acids in human heart/muscle type carnitine palmitoyltransferase I caused by single nucleotide polymorphisms.
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.
16054041 2005 AMP-activated protein kinase: ancient energy gauge provides clues to modern understanding of metabolism.
15647998 2005 Haplotype analysis of carnitine transporters and left ventricular mass in human essential hypertension.
15579906 2005 Cysteine-scanning mutagenesis of muscle carnitine palmitoyltransferase I reveals a single cysteine residue (Cys-305) is important for catalysis.
15356291 2004 Functional interaction between peroxisome proliferator-activated receptors-alpha and Mef-2C on human carnitine palmitoyltransferase 1beta (CPT1beta) gene activation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12565845 2003 Leucine-764 near the extreme C-terminal end of carnitine palmitoyltransferase I is important for activity.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12015320 2002 Structural and functional genomics of the CPT1B gene for muscle-type carnitine palmitoyltransferase I in mammals.
11258795 2001 Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping.
11257506 2001 Molecular enzymology of carnitine transfer and transport.
11001805 Genomics of the human carnitine acyltransferase genes.
10918069 2000 Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I.
10591208 1999 The DNA sequence of human chromosome 22.
10493829 1999 Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.
10408760 1999 Expression and regulation of carnitine palmitoyltransferase-Ialpha and -Ibeta genes.
9830040 1998 Co-regulation of tissue-specific alternative human carnitine palmitoyltransferase Ibeta gene promoters by fatty acid enzyme substrate.
9693124 1998 Expression of novel isoforms of carnitine palmitoyltransferase I (CPT-1) generated by alternative splicing of the CPT-ibeta gene.
9344464 1997 Functional studies of yeast-expressed human heart muscle carnitine palmitoyltransferase I.
9224698 1997 Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I.
9199240 1997 Localization and intron usage analysis of the human CPT1B gene for muscle type carnitine palmitoyltransferase I.
9070950 1997 Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B).
8679700 1996 Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.