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CES1 carboxylesterase 1 [ Homo sapiens (human) ]

Gene ID: 1066, updated on 29-Mar-2020

Summary

Official Symbol
CES1provided by HGNC
Official Full Name
carboxylesterase 1provided by HGNC
Primary source
HGNC:HGNC:1863
See related
Ensembl:ENSG00000198848 MIM:114835
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

Genomic context

See CES1 in Genome Data Viewer
Location:
16q12.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (55802851..55833127, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (55836763..55867098, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene carboxylesterase 1 pseudogene 2 Neighboring gene carboxylesterase 1 pseudogene 1 Neighboring gene carboxylesterase 5A Neighboring gene uncharacterized LOC107984815

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

Description
Genetic determinants of dabigatran plasma levels and their relation to bleeding.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117365

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carboxylic ester hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carboxylic ester hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
methyl indole-3-acetate esterase activity IEA
Inferred from Electronic Annotation
more info
 
methylumbelliferyl-acetate deacetylase activity IEA
Inferred from Electronic Annotation
more info
 
sterol esterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sterol esterase activity IDA
Inferred from Direct Assay
more info
PubMed 
triglyceride lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
angiotensin maturation TAS
Traceable Author Statement
more info
 
cellular response to cholesterol IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to low-density lipoprotein particle stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol ester hydrolysis involved in cholesterol transport TAS
Traceable Author Statement
more info
PubMed 
cholesterol homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
epithelial cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
lipid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
medium-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cholesterol storage IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cholesterol efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to toxic substance TAS
Traceable Author Statement
more info
PubMed 
reverse cholesterol transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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
NP_001020366.1
NP_001257.4
XP_005255831.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_012057.1 RefSeqGene

    Range
    5068..35313
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001025194.2NP_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
    P23141
    Related
    ENSP00000355193.4, ENST00000361503.8
    Conserved Domains (2) summary
    COG0657
    Location:121239
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    pfam00135
    Location:24547
    COesterase; Carboxylesterase family
  2. NM_001025195.2NP_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
    ENSP00000353720.3, ENST00000360526.7
    Conserved Domains (2) summary
    COG0657
    Location:122240
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    pfam00135
    Location:25548
    COesterase; Carboxylesterase family
  3. NM_001266.5NP_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:121239
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    pfam00135
    Location:24546
    COesterase; Carboxylesterase family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    55802851..55833127 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255774.2XP_005255831.1  liver carboxylesterase 1 isoform X1

    Conserved Domains (2) summary
    COG0657
    Location:122240
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    pfam00135
    Location:25547
    COesterase; Carboxylesterase family

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315945.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    26724..57001 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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