Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1066
Gene name Gene Name - the full gene name approved by the HGNC.	Carboxylesterase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CES1
Synonyms (NCBI Gene) Gene synonyms aliases	ACAT, CE-1, CEH, CES2, HMSE, HMSE1, PCE-1, REH, SES1, TGH, hCE-1
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q12.2
Summary Summary of gene provided in NCBI Entrez Gene.	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 bon

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs71647871	C>T	Drug-response, likely-benign	Missense variant, coding sequence variant
rs121912777	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs778068631	A>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004206	hsa-miR-197-3p	Microarray	16822819

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
SP1	Unknown	11409902

Show/Hide all(38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004771	Function	Sterol ester esterase activity	IDA	11015575, 16024911, 16971496, 18762277
GO:0004771	Function	Sterol ester esterase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IDA	16024911
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005811	Component	Lipid droplet	IBA
GO:0005811	Component	Lipid droplet	IDA	16024911
GO:0005811	Component	Lipid droplet	IEA
GO:0005811	Component	Lipid droplet	TAS
GO:0005829	Component	Cytosol	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IDA	11015575
GO:0008203	Process	Cholesterol metabolic process	IDA	16024911
GO:0009636	Process	Response to toxic substance	TAS	1918003
GO:0010875	Process	Positive regulation of cholesterol efflux	IMP	16971496, 18599737, 18762277
GO:0010887	Process	Negative regulation of cholesterol storage	IMP	16971496, 18599737, 18762277
GO:0016042	Process	Lipid catabolic process	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030855	Process	Epithelial cell differentiation	IDA	21492153
GO:0042632	Process	Cholesterol homeostasis	IMP	18762277
GO:0043691	Process	Reverse cholesterol transport	IMP	18599737, 18762277
GO:0047374	Function	Methylumbelliferyl-acetate deacetylase activity	IEA
GO:0051791	Process	Medium-chain fatty acid metabolic process	IDA	11015575
GO:0052689	Function	Carboxylic ester hydrolase activity	IBA
GO:0052689	Function	Carboxylic ester hydrolase activity	IEA
GO:0070857	Process	Regulation of bile acid biosynthetic process	IMP	18599737
GO:0071397	Process	Cellular response to cholesterol	IMP	18762277
GO:0071404	Process	Cellular response to low-density lipoprotein particle stimulus	IMP	18762277
GO:0090122	Process	Cholesterol ester hydrolysis involved in cholesterol transport	TAS	11015575
GO:0090205	Process	Positive regulation of cholesterol metabolic process	IMP	16971496
GO:0106435	Function	Carboxylesterase activity	IDA	8218228, 18762277
GO:0106435	Function	Carboxylesterase activity	IEA
GO:0120188	Process	Regulation of bile acid secretion	IMP	18599737

MIM	HGNC	e!Ensembl
114835	1863	ENSG00000198848

Protein

UniProt ID

P23141

Protein name

Liver carboxylesterase 1 (Acyl-coenzyme A:cholesterol acyltransferase) (ACAT) (Brain carboxylesterase hBr1) (Carboxylesterase 1) (CE-1) (hCE-1) (EC 3.1.1.1) (Cholesteryl ester hydrolase) (CEH) (EC 3.1.1.13) (Cocaine carboxylesterase) (Egasyn) (HMSE) (Meth

Protein function

Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs (PubMed:18762277, PubMed:7980644, PubMed:9169443, PubMed:9490062). Hydrolyzes aromatic and aliphatic esters, but has no catalytic activity toward ami

PDB

1MX1 , 1MX5 , 1MX9 , 1YA4 , 1YA8 , 1YAH , 1YAJ , 2DQY , 2DQZ , 2DR0 , 2H7C , 2HRQ , 2HRR , 3K9B , 4AB1 , 5A7F , 5A7G , 5A7H , 8EOR , 9KWL , 9KWM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00135	COesterase	22 → 547	Carboxylesterase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed predominantly in liver with lower levels in heart and lung (PubMed:10562416). Expressed in macrophages (PubMed:11015575, PubMed:18762277, PubMed:21049984). {ECO:0000269|PubMed:10562416, ECO:0000269|PubMed:11015575, ECO:000026

Sequence

MWLRAFILATLSASAAWGHPSSPPVVDTVHGKVLGKFVSLEGFAQPVAIFLGIPFAKPPL
GPLRFTPPQPAEPWSFVKNATSYPPMCTQDPKAGQLLSELFTNRKENIPLKLSEDCLYLN
IYTPADLTKKNRLPVMVWIHGGGLMVGAASTYDGLALAAHENVVVVTIQYRLGIWGFFST
GDEHSRGNWGHLDQVAALRWVQDNIASFGGNPGSVTIFGESAGGESVSVLVLSPLAKNLF
HRAISESGVALTSVLVKKGDVKPLAEQIAITAGCKTTTSAVMVHCLRQKTEEELLETTLK
MKFLSLDLQGDPRESQPLLGTVIDGMLLLKTPEELQAERNFHTVPYMVGINKQEFGWLIP
MQLMSYPLSEGQLDQKTAMSLLWKSYPLVCIAKELIPEATEKYLGGTDDTVKKKDLFLDL
IADVMFGVPSVIVARNHRDAGAPTYMYEFQYRPSFSSDMKPKTVIGDHGDELFSVFGAPF
LKEGASEEEIRLSKMVMKFWANFARNGNPNGEGLPHWPEYNQKEGYLQIGANTQAAQKLK
DKEVAFWTNLFAKKAVEKPPQTEHIEL

Sequence length

567

Interactions

View interactions

	KEGG		Reactome
	Drug metabolism - other enzymes		Metabolism of Angiotensinogen to Angiotensins Phase I - Functionalization of compounds

CES1 (carboxylesterase 1)