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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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CES1
carboxylesterase 1
Chromosome 16 Β· 16q12.2
NCBI Gene: 1066Ensembl: ENSG00000198848.14HGNC: HGNC:1863UniProt: P23141
139PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sterol ester esterase activitymedium-chain fatty acid metabolic processregulation of bile acid biosynthetic processcellular response to cholesterolalcohol drinkingneurodegenerative diseasetype 1 diabetes mellitushepatocellular carcinoma
✦AI Summary

CES1 (carboxylesterase 1) is a hepatic serine esterase that catalyzes the hydrolysis of ester and amide bonds in drugs and endogenous compounds 1. The enzyme activates ester prodrugs through hydrolysis of aromatic and aliphatic esters, with critical roles in xenobiotic detoxification and drug metabolism 2. CES1 plays a central role in reverse cholesterol transport by hydrolyzing cellular cholesteryl esters to free cholesterol, facilitating both initial efflux from macrophages and hepatic release of cholesterol for bile acid synthesis 3. The enzyme also metabolizes monoacylglycerides, 2-arachidonoylglycerol, and prostaglandins, and regulates triglyceride hydrolysis through SORT1-mediated protein turnover 4. Clinically, CES1 activity directly influences pharmacokinetics of multiple medications. Common genetic variants (e.g., G143E, L40T, G142E) can completely block enalapril metabolism, affecting angiotensin-converting enzyme inhibitor efficacy 5. The CES1 rs2244613 polymorphism significantly impacts dabigatran pharmacokinetics and bleeding risk, with T allele carriers showing higher drug concentrations 6. CES1 variants also affect clopidogrel, oseltamivir, and methylphenidate metabolism 2. Additionally, elevated CES1 expression correlates with hypercholesterolemia and increased CNS relapse risk in acute myeloid leukemia through immune cell modulation 7. Natural product interactions with CES1 may further alter drug disposition 8.

Sources cited
1
CES1 hydrolyzes aromatic and aliphatic esters and promotes reverse cholesterol transport by facilitating cholesteryl ester hydrolysis and hepatic cholesterol release
PMID: 18762277
2
CES1 is a Phase I serine esterase that hydrolyzes ester and amide bonds in pharmaceuticals and is largely localized to liver, GI tract, and lungs
PMID: 19508181
3
SORT1-mediated lysosomal degradation of CES1 regulates triglyceride hydrolysis and hepatic lipid homeostasis through chaperone-mediated autophagy
PMID: 39611307
4
CES1 genetic variants including G143E, L40T, G142E completely block enalapril metabolism and activation, affecting pharmacological efficacy and requiring pharmacogenomic consideration
PMID: 38261266
5
CES1 rs2244613 G allele carriers have significantly lower dabigatran concentrations and reduced bleeding risk compared to T allele carriers
PMID: 35990949
6
CES1 polymorphisms affect metabolism of dabigatran, methylphenidate, oseltamivir, imidapril, and clopidogrel with clinical consequences
PMID: 24988246
7
High CES1 expression is a risk factor for CNS relapse in AML and influences tumor-infiltrating immune cell proportions, particularly M2 macrophages
PMID: 40771823
8
Natural products including cannabinoids, plant-derived compounds, and traditional medicines can inhibit CES1 activity and potentially compromise substrate medication efficacy
PMID: 32591414
Disease Associationsβ“˜20
alcohol drinkingOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.21Weak
type 1 diabetes mellitusOpen Targets
0.13Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
atherosclerosisOpen Targets
0.06Suggestive
glycogen storage disease VIOpen Targets
0.06Suggestive
Blackfan-Diamond anemiaOpen Targets
0.06Suggestive
lipodystrophy, congenital generalized, type 5Open Targets
0.06Suggestive
LIPE-related familial partial lipodystrophyOpen Targets
0.05Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.05Suggestive
CIDEC-related familial partial lipodystrophyOpen Targets
0.05Suggestive
Generalized congenital lipodystrophy with myopathyOpen Targets
0.05Suggestive
non-alcoholic steatohepatitisOpen Targets
0.05Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.05Suggestive
Pathogenic Variants2
NM_001025195.2(CES1):c.428G>A (p.Gly143Glu)Pathogenic
DRUG METABOLISM, ALTERED, CES1-RELATED
β˜†β˜†β˜†β˜†2008β†’ Residue 143
NM_001025195.2(CES1):c.783del (p.Asp261fs)Pathogenic
DRUG METABOLISM, ALTERED, CES1-RELATED
β˜†β˜†β˜†β˜†2008β†’ Residue 261
View on ClinVar β†—
Related Genes
CYP3A4Protein interaction98%NCEH1Protein interaction96%UGT1A10Protein interaction95%CYP2E1Protein interaction95%UGT1A4Protein interaction95%UGT1A7Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Lung
20%
Heart
3%
Ovary
2%
Bone Marrow
2%
Brain
0%
Gene Interaction Network
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CES1CYP3A4NCEH1UGT1A10CYP2E1UGT1A4UGT1A7
PROTEIN STRUCTURE
Preparing viewer…
PDB5A7G Β· 1.48 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.27LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.00 [0.80–1.27]
RankingsWhere CES1 stands among ~20K protein-coding genes
  • #3,303of 20,598
    Most Researched139 Β· top quartile
  • #4,278of 5,498
    Most Pathogenic Variants2
  • #13,413of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedCES1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Pharmacogenetic study of CES1 gene and enalapril efficacy.
PMID: 38261266
J Appl Genet Β· 2024
1.00
2
Human carboxylesterases: an update on CES1, CES2 and CES3.
PMID: 19508181
Protein Pept Lett Β· 2009
0.90
3
Impaired chaperone-mediated autophagy leads to abnormal SORT1 (sortilin 1) turnover and CES1-dependent triglyceride hydrolysis.
PMID: 39611307
Autophagy Β· 2025
0.80
4
Association between
PMID: 35990949
Front Cardiovasc Med Β· 2022
0.70
5
The pharmacogenetics of carboxylesterases: CES1 and CES2 genetic variants and their clinical effect.
PMID: 24988246
Drug Metabol Drug Interact Β· 2014
0.60