CES1 (carboxylesterase 1)

2003-06-01 Affiliation

Identity

HGNC

CES1

LOCATION

16q12.2

LOCUSID

1066

ALIAS

ACAT,CE-1,CEH,CES2,HMSE,HMSE1,PCE-1,REH,SES1,TGH,hCE-1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1066
MIM: 114835
HGNC: 1863
Ensembl: ENSG00000198848

Variants:

dbSNP: 1066
ClinVar: 1066
TCGA: ENSG00000198848
COSMIC: CES1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000198848	ENST00000360526	P23141
ENSG00000198848	ENST00000361503	P23141
ENSG00000198848	ENST00000422046	P23141
ENSG00000198848	ENST00000563241	H3BQV8
ENSG00000198848	ENST00000565568	H3BQR4
ENSG00000198848	ENST00000569260	H3BSU0

Expression (GTEx)

100

150

200

250

300

350

400

450

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Drug metabolism - other enzymes	KEGG	ko00983
Drug metabolism - other enzymes	KEGG	hsa00983
Metabolic pathways	KEGG	hsa01100
Metabolism	REACTOME	R-HSA-1430728
Biological oxidations	REACTOME	R-HSA-211859
Phase 1 - Functionalization of compounds	REACTOME	R-HSA-211945

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA164748728	mycophenolic acid	Chemical	Pathway	associated			24220207
PA165108401	Acute coronary syndrome	Disease	ClinicalAnnotation	associated		PD
PA165110351	Dabigatran	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PK	PD	23467860, 27261537
PA165110775	SN-38	Chemical	Pathway	associated
PA166131290	2-oxo-clopidogrel	Chemical	VariantAnnotation	associated			23275066
PA443459	Atrial Fibrillation	Disease	ClinicalAnnotation, VariantAnnotation	associated	PK	PD	23467860, 27261537
PA443672	Ischemic Attack, Transient	Disease	ClinicalAnnotation	associated		PD	27450232
PA443783	Constriction, Pathologic	Disease	ClinicalAnnotation	associated		PD	27450232
PA443937	Drug Toxicity	Disease	ClinicalAnnotation	associated		PD	28139840
PA447054	Stroke	Disease	ClinicalAnnotation	associated		PD	27450232
PA447197	Attention Deficit Disorder with Hyperactivity	Disease	ClinicalAnnotation	associated	PK	PD	19733552
PA448771	capecitabine	Chemical	ClinicalAnnotation	associated		PD	28139840
PA449053	clopidogrel	Chemical	ClinicalAnnotation, MultilinkAnnotation, VariantAnnotation	associated	PK	PD	23275066, 24535487, 25704243, 27450232
PA449456	enalapril	Chemical	ClinicalAnnotation, MultilinkAnnotation	associated	PK		25919042
PA450085	irinotecan	Chemical	Pathway	associated
PA450464	methylphenidate	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PK	PD	19733552
PA450566	mycophenolate mofetil	Chemical	Pathway	associated			24220207
PA450721	oseltamivir	Chemical	ClinicalAnnotation, MultilinkAnnotation	ambiguous	PK		22673926
PA451205	quinapril	Chemical	MultilinkAnnotation	not associated			25919042
PA451737	trandolapril	Chemical	VariantAnnotation	associated	PK		19185566
PA452619	heroin	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PK		31837295

References

Pubmed ID	Year	Title	Citations
37851403	2024	High-Dose Methylphenidate and Carboxylesterase 1 Genetic Variability in Patients With Attention-Deficit/Hyperactivity Disorder: A Case Series.	0
37851403	2024	High-Dose Methylphenidate and Carboxylesterase 1 Genetic Variability in Patients With Attention-Deficit/Hyperactivity Disorder: A Case Series.	0
36413357	2023	Identification of regulatory variants of carboxylesterase 1 (CES1): A proof-of-concept study for the application of the Allele-Specific Protein Expression (ASPE) assay in identifying cis-acting regulatory genetic polymorphisms.	2
37372371	2023	The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC.	2
36413357	2023	Identification of regulatory variants of carboxylesterase 1 (CES1): A proof-of-concept study for the application of the Allele-Specific Protein Expression (ASPE) assay in identifying cis-acting regulatory genetic polymorphisms.	2
37372371	2023	The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC.	2
34633041	2022	Carboxylesterase-1 Assisted Targeting of HDAC Inhibitors to Mononuclear Myeloid Cells in Inflammatory Bowel Disease.	7
34697082	2022	Transcriptional Regulation of Carboxylesterase 1 in Human Liver: Role of the Nuclear Receptor Subfamily 1 Group H Member 3 and Its Splice Isoforms.	1
35459739	2022	Adipose tissue-specific ablation of Ces1d causes metabolic dysregulation in mice.	11
36553492	2022	The Influence of Structural Variants of the CES1 Gene on the Pharmacokinetics of Enalapril, Presumably Due to Linkage Disequilibrium with the Intronic rs2244613.	1
34633041	2022	Carboxylesterase-1 Assisted Targeting of HDAC Inhibitors to Mononuclear Myeloid Cells in Inflammatory Bowel Disease.	7
34697082	2022	Transcriptional Regulation of Carboxylesterase 1 in Human Liver: Role of the Nuclear Receptor Subfamily 1 Group H Member 3 and Its Splice Isoforms.	1
35459739	2022	Adipose tissue-specific ablation of Ces1d causes metabolic dysregulation in mice.	11
36553492	2022	The Influence of Structural Variants of the CES1 Gene on the Pharmacokinetics of Enalapril, Presumably Due to Linkage Disequilibrium with the Intronic rs2244613.	1
33791812	2021	Clock gene Bmal1 controls diurnal rhythms in expression and activity of intestinal carboxylesterase 1.	3

Citation

Dessen P

CES1 (carboxylesterase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/40060