CES1 carboxylesterase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CES1provided by HGNC
Official Full Name: carboxylesterase 1provided by HGNC
Primary source: HGNC:HGNC:1863
See related: Ensembl:ENSG00000198848 MIM:114835; AllianceGenome:HGNC:1863
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CEH; REH; TGH; ACAT; CE-1; CES2; HMSE; SES1; HMSE1; PCE-1; hCE-1
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]
Expression: Biased expression in liver (RPKM 737.7), gall bladder (RPKM 239.9) and 3 other tissues See more
Orthologs: all
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Genomic context

Location:: 16q12.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (55802851..55833096, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (61597797..61628094, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (55836763..55867008, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Major implications of single nucleotide polymorphisms in human carboxylesterase 1 on substrate bioavailability.
Title: Major implications of single nucleotide polymorphisms in human carboxylesterase 1 on substrate bioavailability.
Pharmacogenetic study of CES1 gene and enalapril efficacy.
Title: Pharmacogenetic study of CES1 gene and enalapril efficacy.
High-Dose Methylphenidate and Carboxylesterase 1 Genetic Variability in Patients With Attention-Deficit/Hyperactivity Disorder: A Case Series.
Title: High-Dose Methylphenidate and Carboxylesterase 1 Genetic Variability in Patients With Attention-Deficit/Hyperactivity Disorder: A Case Series.
The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC.
Title: The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC.
The Influence of Structural Variants of the CES1 Gene on the Pharmacokinetics of Enalapril, Presumably Due to Linkage Disequilibrium with the Intronic rs2244613.
Title: The Influence of Structural Variants of the CES1 Gene on the Pharmacokinetics of Enalapril, Presumably Due to Linkage Disequilibrium with the Intronic rs2244613.
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.
Title: 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.
Carboxylesterase-1 Assisted Targeting of HDAC Inhibitors to Mononuclear Myeloid Cells in Inflammatory Bowel Disease.
Title: Carboxylesterase-1 Assisted Targeting of HDAC Inhibitors to Mononuclear Myeloid Cells in Inflammatory Bowel Disease.
Adipose tissue-specific ablation of Ces1d causes metabolic dysregulation in mice.
Title: Adipose tissue-specific ablation of Ces1d causes metabolic dysregulation in mice.
Transcriptional Regulation of Carboxylesterase 1 in Human Liver: Role of the Nuclear Receptor Subfamily 1 Group H Member 3 and Its Splice Isoforms.
Title: Transcriptional Regulation of Carboxylesterase 1 in Human Liver: Role of the Nuclear Receptor Subfamily 1 Group H Member 3 and Its Splice Isoforms.
Melatonin inhibits lipid accumulation to repress prostate cancer progression by mediating the epigenetic modification of CES1.
Title: Melatonin inhibits lipid accumulation to repress prostate cancer progression by mediating the epigenetic modification of CES1.

Submit: New GeneRIF Correction See all GeneRIFs (91)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
DRUG METABOLISM, ALTERED, CES1-RELATED MedGen: C4748035 OMIM: 618057 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genetic determinants of dabigatran plasma levels and their relation to bleeding. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S759 (e-PCR)
- UniSTS:1907

RH70948 (e-PCR)
- UniSTS:30067

D16S2959 (e-PCR)
- UniSTS:13485

RH11630 (e-PCR)
- UniSTS:42950

D16S306 (e-PCR)
- UniSTS:146905

D16S756 (e-PCR)
- UniSTS:64226

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carboxylesterase activity	IDA Inferred from Direct Assay more info	PubMed
enables carboxylic ester hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables methylumbelliferyl-acetate deacetylase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sterol ester esterase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to cholesterol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to low-density lipoprotein particle stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol ester hydrolysis involved in cholesterol transport	TAS Traceable Author Statement more info	PubMed
involved_in cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in epithelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in medium-chain fatty acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cholesterol storage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cholesterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of bile acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of bile acid secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to toxic substance	TAS Traceable Author Statement more info	PubMed
involved_in reverse cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
is_active_in lipid droplet	IBA Inferred from Biological aspect of Ancestor more info
located_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed
located_in lipid droplet	TAS Traceable Author Statement more info

General protein information

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Preferred Names: liver carboxylesterase 1

Names: acyl coenzyme A:cholesterol acyltransferase; brain carboxylesterase hBr1; carboxylesterase 1 (monocyte/macrophage serine esterase 1); carboxylesterase 2 (liver); cholesteryl ester hydrolase; cocaine carboxylesterase; egasyn; human monocyte/macrophage serine esterase 1; methylumbelliferyl-acetate deacetylase 1; monocyte/macrophage serine esterase; retinyl ester hydrolase; serine esterase 1; triacylglycerol hydrolase

NP_001020365.1

EC 3.1.1.1

EC 3.1.1.13

EC 3.1.1.56

NP_001020366.1

EC 3.1.1.1

EC 3.1.1.13

EC 3.1.1.56

NP_001257.4

EC 3.1.1.1

EC 3.1.1.13

EC 3.1.1.56

XP_005255831.1

EC 3.1.1.1

EC 3.1.1.13

EC 3.1.1.56

XP_054185552.1

EC 3.1.1.1

EC 3.1.1.13

EC 3.1.1.56

XP_054235372.1

EC 3.1.1.1

EC 3.1.1.13

EC 3.1.1.56

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012057.1 RefSeqGene

Range

5068..35313

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001025194.2 → NP_001020365.1 liver carboxylesterase 1 isoform b precursor

See identical proteins and their annotated locations for NP_001020365.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses a different in-frame splice site at the end of a coding exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter by 1 aa compared to isoform a.

Source sequence(s)

AB119995, AU139632, BC012418

Consensus CDS

CCDS45488.1

UniProtKB/Swiss-Prot

A6NIM1, A8K3K8, A8K844, E9PAU8, P23141, P82127, Q00015, Q13657, Q14062, Q16737, Q16788, Q549X7, Q549X8, Q86UK2, Q96EE8, Q9UC52, Q9UDG8, Q9UK77, Q9ULY2

Related

ENSP00000355193.4, ENST00000361503.8

Conserved Domains (2) summary

COG0657
Location:121 → 239

Aes; Acetyl esterase/lipase [Lipid transport and metabolism]

pfam00135
Location:24 → 547

COesterase; Carboxylesterase family
NM_001025195.2 → NP_001020366.1 liver carboxylesterase 1 isoform a precursor

See identical proteins and their annotated locations for NP_001020366.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AU139632, BC012418, CB137639, L07764

Consensus CDS

CCDS32450.1

UniProtKB/Swiss-Prot

P23141

Related

ENSP00000353720.4, ENST00000360526.8

Conserved Domains (2) summary

COG0657
Location:122 → 240

Aes; Acetyl esterase/lipase [Lipid transport and metabolism]

pfam00135
Location:25 → 548

COesterase; Carboxylesterase family
NM_001266.5 → NP_001257.4 liver carboxylesterase 1 isoform c precursor

See identical proteins and their annotated locations for NP_001257.4

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses a different in-frame splice site at the end of two separate exons compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter by 2 aa compared to isoform a.

Source sequence(s)

AU139632, BC012418, L07765

Consensus CDS

CCDS45489.1

UniProtKB/Swiss-Prot

P23141

Related

ENSP00000390492.2, ENST00000422046.6

Conserved Domains (2) summary

COG0657
Location:121 → 239

Aes; Acetyl esterase/lipase [Lipid transport and metabolism]

pfam00135
Location:24 → 546

COesterase; Carboxylesterase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

55802851..55833096 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005255774.3 → XP_005255831.1 liver carboxylesterase 1 isoform X1

Conserved Domains (2) summary

COG0657
Location:122 → 240

Aes; Acetyl esterase/lipase [Lipid transport and metabolism]

pfam00135
Location:25 → 547

COesterase; Carboxylesterase family