G143E_human-CES1

General

Gene Locus : human-CES1

Mode of mutation : Natural mutant || Site directed mutagenesis

Disease :

Summary : Expression Low activity or expression Zhu_2008_Am.J.Hum.Genet_82_1241 || Expression increased clopidogrel active metabolite levels and greater clopidogrel response Lewis_2013_Pharmacogenet.Genomics_23_1 || Expression activation of the antiviral prodrug oseltamivir is impaired Zhu_2009_Drug.Metab.Dispos_37_264 || Dabigatran etexilate activation is affected by the CES1 genetic polymorphism G143E (rs71647871) and gender Shi_2016_Biochem.Pharmacol_119_76 || Enalapril activation is affected by the CES1 genetic polymorphism G143E (rs71647871) Ikonnikova_2022_J.Pers.Med_12_580

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity : CES-1 deficiency

Modification : Expression

Torpedo_number : 119

Kinetic Parameter : No kinetic parameter

News : MAY-20-2008

Comment : p.G143E Gly143Glu c.428G>A (rs71647871)

References (23)

Title : Pharmacogenetic study of CES1 gene and enalapril efficacy - Hussain_2024_J.Appl.Genet__
Author(s) : Hussain M , Basheer S , Khalil A , Haider QUA , Saeed H , Faizan M
Ref : J Appl Genet , : , 2024
Abstract : Hussain_2024_J.Appl.Genet__
ESTHER : Hussain_2024_J.Appl.Genet__
PubMedSearch : Hussain_2024_J.Appl.Genet__
PubMedID: 38261266
Gene_locus related to this paper: human-CES1

Title : Major implications of single nucleotide polymorphisms in human carboxylesterase 1 on substrate bioavailability - Yerrakula_2022_Biotechnol.Genet.Eng.Rev__
Author(s) : Yerrakula G , Abraham S , John S , Zeharvi M , George SG , Senthil V , Maiz F , Rahman MH
Ref : Biotechnol Genet Eng Rev , :1 , 2022
Abstract : Yerrakula_2022_Biotechnol.Genet.Eng.Rev__
ESTHER : Yerrakula_2022_Biotechnol.Genet.Eng.Rev__
PubMedSearch : Yerrakula_2022_Biotechnol.Genet.Eng.Rev__
PubMedID: 35946821
Gene_locus related to this paper: human-CES1

Title : The Influence of the CES1 Genotype on the Pharmacokinetics of Enalapril in Patients with Arterial Hypertension - Ikonnikova_2022_J.Pers.Med_12_580
Author(s) : Ikonnikova A , Rodina T , Dmitriev A , Melnikov E , Kazakov R , Nasedkina T
Ref : J Pers Med , 12 : , 2022
Abstract : Ikonnikova_2022_J.Pers.Med_12_580
ESTHER : Ikonnikova_2022_J.Pers.Med_12_580
PubMedSearch : Ikonnikova_2022_J.Pers.Med_12_580
PubMedID: 35455696
Gene_locus related to this paper: human-CES1

Title : The impact of human CES1 genetic variation on enzyme activity assessed by ritalinic acid\/methylphenidate ratios - Stage_2019_Basic.Clin.Pharmacol.Toxicol_125_54
Author(s) : Stage C , Dalhoff K , Rasmussen HB , Schow Guski L , Thomsen R , Bjerre D , Ferrero-Miliani L , Busk Madsen M , Jurgens G
Ref : Basic Clin Pharmacol Toxicol , 125 :54 , 2019
Abstract : Stage_2019_Basic.Clin.Pharmacol.Toxicol_125_54
ESTHER : Stage_2019_Basic.Clin.Pharmacol.Toxicol_125_54
PubMedSearch : Stage_2019_Basic.Clin.Pharmacol.Toxicol_125_54
PubMedID: 30801959
Gene_locus related to this paper: human-CES1

Title : The influence of carboxylesterase 1 polymorphism and cannabidiol on the hepatic metabolism of heroin - Qian_2019_Chem.Biol.Interact__108914
Author(s) : Qian Y , Gilliland TK , Markowitz JS
Ref : Chemico-Biological Interactions , :108914 , 2019
Abstract : Qian_2019_Chem.Biol.Interact__108914
ESTHER : Qian_2019_Chem.Biol.Interact__108914
PubMedSearch : Qian_2019_Chem.Biol.Interact__108914
PubMedID: 31837295

Title : Effects of Genetic Variants on Carboxylesterase 1 Gene Expression, and Clopidogrel Pharmacokinetics and Antiplatelet Effects - Neuvonen_2018_Basic.Clin.Pharmacol.Toxicol_122_341
Author(s) : Neuvonen M , Tarkiainen EK , Tornio A , Hirvensalo P , Tapaninen T , Paile-Hyvarinen M , Itkonen MK , Holmberg MT , Karja V , Mannisto VT , Neuvonen PJ , Pihlajamaki J , Backman JT , Niemi M
Ref : Basic Clin Pharmacol Toxicol , 122 :341 , 2018
Abstract : Neuvonen_2018_Basic.Clin.Pharmacol.Toxicol_122_341
ESTHER : Neuvonen_2018_Basic.Clin.Pharmacol.Toxicol_122_341
PubMedSearch : Neuvonen_2018_Basic.Clin.Pharmacol.Toxicol_122_341
PubMedID: 28990360
Gene_locus related to this paper: human-CES1

Title : Genetic variation in human carboxylesterase CES1 confers resistance to hepatic steatosis - Lian_2018_Biochim.Biophys.Acta_1863_688
Author(s) : Lian J , Bahitham W , Panigrahi R , Nelson R , Li L , Watts R , Thiesen A , Lemieux MJ , Lehner R
Ref : Biochimica & Biophysica Acta , 1863 :688 , 2018
Abstract : Lian_2018_Biochim.Biophys.Acta_1863_688
ESTHER : Lian_2018_Biochim.Biophys.Acta_1863_688
PubMedSearch : Lian_2018_Biochim.Biophys.Acta_1863_688
PubMedID: 29631096
Gene_locus related to this paper: human-CES1

Title : The impact of CES1 genotypes on the pharmacokinetics of methylphenidate in healthy Danish subjects - Stage_2017_Br.J.Clin.Pharmacol_83_1506
Author(s) : Stage C , Jurgens G , Guski LS , Thomsen R , Bjerre D , Ferrero-Miliani L , Lyauk YK , Rasmussen HB , Dalhoff K
Ref : British Journal of Clinical Pharmacology , 83 :1506 , 2017
Abstract : Stage_2017_Br.J.Clin.Pharmacol_83_1506
ESTHER : Stage_2017_Br.J.Clin.Pharmacol_83_1506
PubMedSearch : Stage_2017_Br.J.Clin.Pharmacol_83_1506
PubMedID: 28087982
Gene_locus related to this paper: human-CES1

Title : Population Pharmacokinetics of Methylphenidate in Healthy Adults Emphasizing Novel and Known Effects of Several Carboxylesterase 1 (CES1) Variants - Lyauk_2016_Clin.Transl.Sci_9_337
Author(s) : Lyauk YK , Stage C , Bergmann TK , Ferrero-Milliani L , Bjerre D , Thomsen R , Dalhoff KP , Rasmussen HB , Jurgens G
Ref : Clin Transl Sci , 9 :337 , 2016
Abstract : Lyauk_2016_Clin.Transl.Sci_9_337
ESTHER : Lyauk_2016_Clin.Transl.Sci_9_337
PubMedSearch : Lyauk_2016_Clin.Transl.Sci_9_337
PubMedID: 27754602
Gene_locus related to this paper: human-CES1

Title : Sacubitril Is Selectively Activated by Carboxylesterase 1 (CES1) in the Liver and the Activation Is Affected by CES1 Genetic Variation - Shi_2016_Drug.Metab.Dispos_44_554
Author(s) : Shi J , Wang X , Nguyen J , Wu AH , Bleske BE , Zhu HJ
Ref : Drug Metabolism & Disposition: The Biological Fate of Chemicals , 44 :554 , 2016
Abstract : Shi_2016_Drug.Metab.Dispos_44_554
ESTHER : Shi_2016_Drug.Metab.Dispos_44_554
PubMedSearch : Shi_2016_Drug.Metab.Dispos_44_554
PubMedID: 26817948
Gene_locus related to this paper: human-CES1

Title : Dabigatran etexilate activation is affected by the CES1 genetic polymorphism G143E (rs71647871) and gender - Shi_2016_Biochem.Pharmacol_119_76
Author(s) : Shi J , Wang X , Nguyen JH , Bleske BE , Liang Y , Liu L , Zhu HJ
Ref : Biochemical Pharmacology , 119 :76 , 2016
Abstract : Shi_2016_Biochem.Pharmacol_119_76
ESTHER : Shi_2016_Biochem.Pharmacol_119_76
PubMedSearch : Shi_2016_Biochem.Pharmacol_119_76
PubMedID: 27614009
Gene_locus related to this paper: human-CES1

Title : Association of Oseltamivir Activation with Gender and Carboxylesterase 1 Genetic Polymorphisms - Shi_2016_Basic.Clin.Pharmacol.Toxicol_119_555
Author(s) : Shi J , Wang X , Eyler RF , Liang Y , Liu L , Mueller BA , Zhu HJ
Ref : Basic Clin Pharmacol Toxicol , 119 :555 , 2016
Abstract : Shi_2016_Basic.Clin.Pharmacol.Toxicol_119_555
ESTHER : Shi_2016_Basic.Clin.Pharmacol.Toxicol_119_555
PubMedSearch : Shi_2016_Basic.Clin.Pharmacol.Toxicol_119_555
PubMedID: 27228223
Gene_locus related to this paper: human-CES1

Title : CES1 genetic variation affects the activation of angiotensin-converting enzyme inhibitors - Wang_2016_Pharmacogenomics.J_16_220
Author(s) : Wang X , Wang G , Shi J , Aa JY , Comas R , Liang Y , Zhu HJ
Ref : Pharmacogenomics J , 16 :220 , 2016
Abstract : Wang_2016_Pharmacogenomics.J_16_220
ESTHER : Wang_2016_Pharmacogenomics.J_16_220
PubMedSearch : Wang_2016_Pharmacogenomics.J_16_220
PubMedID: 26076923
Gene_locus related to this paper: human-CES1

Title : Investigating the impact of missense mutations in hCES1 by in silico structure-based approaches - Nzabonimpa_2016_Drug.Metab.Pers.Ther__
Author(s) : Nzabonimpa GS , Rasmussen HB , Brunak S , Taboureau O
Ref : Drug Metab Pers Ther , : , 2016
Abstract : Nzabonimpa_2016_Drug.Metab.Pers.Ther__
ESTHER : Nzabonimpa_2016_Drug.Metab.Pers.Ther__
PubMedSearch : Nzabonimpa_2016_Drug.Metab.Pers.Ther__
PubMedID: 26900165
Gene_locus related to this paper: human-CES1

Title : Carboxylesterase 1 c.428G>\;A single nucleotide variation increases the antiplatelet effects of clopidogrel by reducing its hydrolysis in humans - Tarkiainen_2015_Clin.Pharmacol.Ther_97_650
Author(s) : Tarkiainen EK , Holmberg MT , Tornio A , Neuvonen M , Neuvonen PJ , Backman JT , Niemi M
Ref : Clinical Pharmacology & Therapeutics , 97 :650 , 2015
Abstract : Tarkiainen_2015_Clin.Pharmacol.Ther_97_650
ESTHER : Tarkiainen_2015_Clin.Pharmacol.Ther_97_650
PubMedSearch : Tarkiainen_2015_Clin.Pharmacol.Ther_97_650
PubMedID: 25704243
Gene_locus related to this paper: human-CES1

Title : Effect of carboxylesterase 1 c.428G >\; A single nucleotide variation on the pharmacokinetics of quinapril and enalapril - Tarkiainen_2015_Br.J.Clin.Pharmacol_80_1131
Author(s) : Tarkiainen EK , Tornio A , Holmberg MT , Launiainen T , Neuvonen PJ , Backman JT , Niemi M
Ref : British Journal of Clinical Pharmacology , 80 :1131 , 2015
Abstract : Tarkiainen_2015_Br.J.Clin.Pharmacol_80_1131
ESTHER : Tarkiainen_2015_Br.J.Clin.Pharmacol_80_1131
PubMedSearch : Tarkiainen_2015_Br.J.Clin.Pharmacol_80_1131
PubMedID: 25919042
Gene_locus related to this paper: human-CES1

Title : The functional G143E variant of carboxylesterase 1 is associated with increased clopidogrel active metabolite levels and greater clopidogrel response - Lewis_2013_Pharmacogenet.Genomics_23_1
Author(s) : Lewis JP , Horenstein RB , Ryan K , O'Connell JR , Gibson Q , Mitchell BD , Tanner K , Chai S , Bliden KP , Tantry US , Peer CJ , Figg WD , Spencer SD , Pacanowski MA , Gurbel PA , Shuldiner AR
Ref : Pharmacogenet Genomics , 23 :1 , 2013
Abstract : Lewis_2013_Pharmacogenet.Genomics_23_1
ESTHER : Lewis_2013_Pharmacogenet.Genomics_23_1
PubMedSearch : Lewis_2013_Pharmacogenet.Genomics_23_1
PubMedID: 23111421
Gene_locus related to this paper: human-CES1

Title : Carboxylesterase 1 as a determinant of clopidogrel metabolism and activation - Zhu_2013_J.Pharmacol.Exp.Ther_344_665
Author(s) : Zhu HJ , Wang X , Gawronski BE , Brinda BJ , Angiolillo DJ , Markowitz JS
Ref : Journal of Pharmacology & Experimental Therapeutics , 344 :665 , 2013
Abstract : Zhu_2013_J.Pharmacol.Exp.Ther_344_665
ESTHER : Zhu_2013_J.Pharmacol.Exp.Ther_344_665
PubMedSearch : Zhu_2013_J.Pharmacol.Exp.Ther_344_665
PubMedID: 23275066
Gene_locus related to this paper: human-CES1

Title : Carboxylesterase 1 polymorphism impairs oseltamivir bioactivation in humans - Tarkiainen_2012_Clin.Pharmacol.Ther_92_68
Author(s) : Tarkiainen EK , Backman JT , Neuvonen M , Neuvonen PJ , Schwab M , Niemi M
Ref : Clinical Pharmacology & Therapeutics , 92 :68 , 2012
Abstract : Tarkiainen_2012_Clin.Pharmacol.Ther_92_68
ESTHER : Tarkiainen_2012_Clin.Pharmacol.Ther_92_68
PubMedSearch : Tarkiainen_2012_Clin.Pharmacol.Ther_92_68
PubMedID: 22588607
Gene_locus related to this paper: human-CES1

Title : A simple allele-specific polymerase chain reaction method to detect the Gly143Glu polymorphism in the human carboxylesterase 1 gene: importance of genotyping for pharmacogenetic treatment - Walter_2010_Genet.Test.Mol.Biomarkers_14_749
Author(s) : Walter Soria N , Belaus A , Galvan C , Ana Pasquali M , Velez P , Del Carmen Montes C , Beltramo DM
Ref : Genet Test Mol Biomarkers , 14 :749 , 2010
Abstract : Walter_2010_Genet.Test.Mol.Biomarkers_14_749
ESTHER : Walter_2010_Genet.Test.Mol.Biomarkers_14_749
PubMedSearch : Walter_2010_Genet.Test.Mol.Biomarkers_14_749
PubMedID: 20858053

Title : Carboxylesterase 1 gene polymorphism and methylphenidate response in ADHD - Nemoda_2009_Neuropharmacol_57_731
Author(s) : Nemoda Z , Angyal N , Tarnok Z , Gadoros J , Sasvari-Szekely M
Ref : Neuropharmacology , 57 :731 , 2009
Abstract : Nemoda_2009_Neuropharmacol_57_731
ESTHER : Nemoda_2009_Neuropharmacol_57_731
PubMedSearch : Nemoda_2009_Neuropharmacol_57_731
PubMedID: 19733552
Gene_locus related to this paper: human-CES1

Title : Activation of the antiviral prodrug oseltamivir is impaired by two newly identified carboxylesterase 1 variants - Zhu_2009_Drug.Metab.Dispos_37_264
Author(s) : Zhu HJ , Markowitz JS
Ref : Drug Metabolism & Disposition: The Biological Fate of Chemicals , 37 :264 , 2009
Abstract : Zhu_2009_Drug.Metab.Dispos_37_264
ESTHER : Zhu_2009_Drug.Metab.Dispos_37_264
PubMedSearch : Zhu_2009_Drug.Metab.Dispos_37_264
PubMedID: 19022936
Gene_locus related to this paper: human-CES1

Title : Two CES1 gene mutations lead to dysfunctional carboxylesterase 1 activity in man: clinical significance and molecular basis - Zhu_2008_Am.J.Hum.Genet_82_1241
Author(s) : Zhu HJ , Patrick KS , Yuan HJ , Wang JS , Donovan JL , DeVane CL , Malcolm R , Johnson JA , Youngblood GL , Sweet DH , Langaee TY , Markowitz JS
Ref : American Journal of Human Genetics , 82 :1241 , 2008
Abstract : Zhu_2008_Am.J.Hum.Genet_82_1241
ESTHER : Zhu_2008_Am.J.Hum.Genet_82_1241
PubMedSearch : Zhu_2008_Am.J.Hum.Genet_82_1241
PubMedID: 18485328
Gene_locus related to this paper: human-CES1