CES1 - carboxylesterase 1 Gene

Also Known as CEH; REH; TGH; ACAT; CE-1; CES2; HMSE; SES1; HMSE1; PCE-1; hCE-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1066

About CES1

Cytogenetic location: 16q12.2 Genomic coordinates (GRCh38): 16:55,802,851-55,833,096 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 667 orthologues, 13 paralogues and is associated with 1 phenotype. Biased expression in liver (RPKM 737.7), gall bladder (RPKM 239.9) and 3 other tissues.

Summary

This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and Cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

CES1 Products (3)

mRNA	Protein	Name
NM_001025194.2	NP_001020365.1	liver carboxylesterase 1 isoform b precursor
NM_001025195.2	NP_001020366.1	liver carboxylesterase 1 isoform a precursor
NM_001266.5	NP_001257.4	liver carboxylesterase 1 isoform c precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables carboxylesterase activity	IDA IDA: Inferred from direct assay	8218228	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sterol ester esterase activity	IDA IDA: Inferred from direct assay	11015575	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to cholesterol	IMP IMP: Inferred from mutant phenotype	18762277	GOA
involved in cellular response to low-density lipoprotein particle stimulus	IMP IMP: Inferred from mutant phenotype	18762277	GOA
involved in cholesterol biosynthetic process	IDA IDA: Inferred from direct assay	11015575	GOA
involved in cholesterol homeostasis	IMP IMP: Inferred from mutant phenotype	18762277	GOA
involved in cholesterol metabolic process	IDA IDA: Inferred from direct assay	16024911	GOA
involved in epithelial cell differentiation	IDA IDA: Inferred from direct assay	21492153	GOA
involved in medium-chain fatty acid metabolic process	IDA IDA: Inferred from direct assay	11015575	GOA
involved in negative regulation of cholesterol storage	IMP IMP: Inferred from mutant phenotype	16971496	GOA
involved in positive regulation of cholesterol efflux	IMP IMP: Inferred from mutant phenotype	16971496	GOA
involved in positive regulation of cholesterol metabolic process	IMP IMP: Inferred from mutant phenotype	16971496	GOA
involved in regulation of bile acid biosynthetic process	IMP IMP: Inferred from mutant phenotype	18599737	GOA
involved in regulation of bile acid secretion	IMP IMP: Inferred from mutant phenotype	18599737	GOA
involved in reverse cholesterol transport	IMP IMP: Inferred from mutant phenotype	18599737	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	16024911	GOA
located in lipid droplet	IDA IDA: Inferred from direct assay	16024911	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CES1 Protein Structure

COesterase

0
100
200
300
400
500
567 a.a.

Protein Preferred Names	Protein Names
liver carboxylesterase 1	acyl coenzyme A:cholesterol acyltransferase

Recombinant CES1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7730	Carboxylesterase 1 Protein, Human (HEK293, His)	P23141-3 (H19-E562)	≥ 95%, as determined by reducing SDS-PAGE.

CES1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82583	Liver Carboxylesterase 1 Antibody (YA2328)	WB, IP, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Drug Metabolism, Altered, Ces1-Related
Egasyn	Esterase 22 Es22
Alveolar Echinococcosis	Echinococcus Multilocularis Infection Echinococcosis Alveolococcosis Multilocular Hydatid Small Fox Tapeworm
Cystic Echinococcosis	Echinococcus Granulosus Infection Echinococcus Granulosus Infection Of Lung Echinococcus Granulosus Echinococcus Granulosus Infection Of Thyroid Echinococcus Granulosus Infectious Disease Echinococcus Granulosus Infectious Disease Of Liver Echinococcus Granulosus Infectious Disease Of Thyroid Liver Echinococcus Granulosus Lung Echinococcus Granulosus Thyroid Echinococcus Granulosus Unilocular Echinococcosis Unilocular Hydatid Disease Hydatid Disease Hydatidosis Echinococcosis
Reye Syndrome	Reye'S Syndrome Rasmussen Encephalitis Fatty Liver With Encephalopathy Rasmussen'S Encephalitis Re Rs Rasmussen Syndrome Liver Fatty Metamorphosis--Acute Encephalopathy Syndrome Reye Encephalopathy
Large Intestine Adenoma	Adenoma Of Large Intestine
Polycystic Echinococcosis	Human Polycystic Hydatid Disease Neotropical Echinococcosis
Echinococcosis	Hydatidosis Echinococcal Disease Echinococcosis Of Liver Hepatic Echinococcosis Hydatid Disease Liver Echinococcus Pulmonary Echinococcosis Hydatids Echinococcosis, Hepatic Echinococcosis, Pulmonary Unilocular Echinococcosis Echinococcus Disease Echinococcus Granulosus Infection Echinococcus Multilocularis Infection Dog Tapeworm Infection Echinococcus Granulosus Infestation Echinococciasis Cystic Echinococcosis
Taeniasis	Beef Tapeworm Infection Infection By Taeniarhynchus Saginatus Taenia Saginata Infectious Disease Taenia Saginata Infection Pork Tapeworm Infection Armed Tapeworm Infection Infection By Taenia Solium Intestinal Taenia Solium Infection Pork Tapeworm Taenia Solium Taeniasis Adult Pork Tapeworm Infection Adult Pork Tapeworm Beef Tapeworm Infection By Taenia Saginata Unarmed Tapeworm Infection Taenia Saginata Taeniasis Infection Due To Adult Tapeworm Taenia Saginata Mediocanellata Taenia Infection Infestation By Taenia Saginata Infestation By Taenia Mediocanellata
Niemann-Pick Disease	Sphingomyelin/Cholesterol Lipidosis Niemann-Pick Diseases Lipoid Histiocytosis Sphingomyelin Lipidosis Sphingomyelinase Deficiency Disease Lipid Histiocytosis Neuronal Cholesterol Lipidosis Neuronal Lipidosis Npd Sphingomyelinase Deficiency Niemann-Pick Disease, Type A
Retinitis Pigmentosa 44	RP44 Retinitis Pigmentosa, Type 44
Glossopharyngeal Neuralgia	Glossopharyngeal Nerve Diseases
Parasitic Helminthiasis Infectious Disease	Helminthiasis Intestinal Helminthiasis Helminth Infection Helminthosis Worm Infection Worm Infections Helminth Infections Intestinal Infection Due To Class Cestoda And/Or Class Trematoda And/Or Phylum Nemata Parasitic Enteritis Metazoal Dysentery Intestinal Worms Nos
Cysticercosis	Neurocysticercosis Submacular Cysticercosis Intestinal Taenia Solium Infection Pork Tapeworm Infection Tapeworm Infection: Intestinal Taenia Solum Tapeworm Infection: Pork Tenia Solium Infectious Disease Taeniasis Tenia Solium Infection Cysticerciasis Infection Due To Larval Form Of Taenia Solium

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-110148	WWL113	Inhibitor	99.72%	Unkown
HY-N0921	Dihydromethysticin	Inhibitor	99.71%	Unkown
HY-173267	CES2A-IN-2	Inhibitor	99.16%	Unkown
HY-D3461	CycLuc1 methyl ester	Substrate	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CES1	VGNC	VGNC:52121
Rattus norvegicus	CES1	RGD	RGD:70896