| Tchem | Carnitine O-palmitoyltransferase 1, muscle isoform |
Comments
| Disease | Target Count |
|---|---|
| Cardiomegaly | 66 |
| Diabetes Mellitus, Experimental | 106 |
| Liver neoplasms | 108 |
| Myocardial Ischemia | 169 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Narcolepsy | 69 | 4.162 | 2.1 |
CHEMBL3431507
pIC50 6.00
CHEMBL3431624
pIC50 6.00
CHEMBL3431548
pIC50 6.01
CHEMBL3431889
pIC50 6.02
CHEMBL3431686
pIC50 6.02
CHEMBL3431661
pIC50 6.03
CHEMBL3431924
pIC50 6.04
CHEMBL3431642
pIC50 6.04
CHEMBL3431879
pIC50 6.07
CHEMBL3431721
pIC50 6.07
CHEMBL3431635
pIC50 6.08
CHEMBL3431920
pIC50 6.09
CHEMBL3431623
pIC50 6.10
CHEMBL3431679
pIC50 6.10
CHEMBL3431549
pIC50 6.12
CHEMBL3431511
pIC50 6.13
CHEMBL3431512
pIC50 6.13
CHEMBL3431601
pIC50 6.13
CHEMBL3431890
pIC50 6.15
CHEMBL3431926
pIC50 6.16
| PMID | Text | |
|---|---|---|
| 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 |
MAEAHQAVAFQFTVTPDGVDFRLSREALKHVYLSGINSWKKRLIRIKNGILRGVYPGSPTSWLVVIMATV 1 - 70 GSSFCNVDISLGLVSCIQRCLPQGCGPYQTPQTRALLSMAIFSTGVWVTGIFFFRQTLKLLLCYHGWMFE 71 - 140 MHGKTSNLTRIWAMCIRLLSSRHPMLYSFQTSLPKLPVPRVSATIQRYLESVRPLLDDEEYYRMELLAKE 141 - 210 FQDKTAPRLQKYLVLKSWWASNYVSDWWEEYIYLRGRSPLMVNSNYYVMDLVLIKNTDVQAARLGNIIHA 211 - 280 MIMYRRKLDREEIKPVMALGIVPMCSYQMERMFNTTRIPGKDTDVLQHLSDSRHVAVYHKGRFFKLWLYE 281 - 350 GARLLKPQDLEMQFQRILDDPSPPQPGEEKLAALTAGGRVEWAQARQAFFSSGKNKAALEAIERAAFFVA 351 - 420 LDEESYSYDPEDEASLSLYGKALLHGNCYNRWFDKSFTLISFKNGQLGLNAEHAWADAPIIGHLWEFVLG 421 - 490 TDSFHLGYTETGHCLGKPNPALAPPTRLQWDIPKQCQAVIESSYQVAKALADDVELYCFQFLPFGKGLIK 491 - 560 KCRTSPDAFVQIALQLAHFRDRGKFCLTYEASMTRMFREGRTETVRSCTSESTAFVQAMMEGSHTKADLR 561 - 630 DLFQKAAKKHQNMYRLAMTGAGIDRHLFCLYLVSKYLGVSSPFLAEVLSEPWRLSTSQIPQSQIRMFDPE 631 - 700 QHPNHLGAGGGFGPVADDGYGVSYMIAGENTIFFHISSKFSSSETNAQRFGNHIRKALLDIADLFQVPKA 701 - 770 YS 771 - 772 //
| 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. |
