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Gene: CES1 (carboxylesterase 1) Homo sapiens
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Symbol: CES1
Name: carboxylesterase 1
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACAT; acyl coenzyme A:cholesterol acyltransferase; acyl-coenzyme A:cholesterol acyltransferase; brain carboxylesterase hBr1; carboxylesterase 1 (monocyte/macrophage serine esterase 1); carboxylesterase 2 (liver); CE-1; CEH; CES2; cholesteryl ester hydrolase; cocaine carboxylesterase; egasyn; hCE-1; HMSE; HMSE1; human monocyte/macrophage serine esterase 1; liver carboxylesterase 1; methylumbelliferyl-acetate deacetylase 1; MGC117365; monocyte/macrophage serine esterase; PCE-1; REH; retinyl ester hydrolase; serine esterase 1; SES1; TGH; triacylglycerol hydrolase
Orthologs:
Mus musculus (house mouse) : Ces1d (carboxylesterase 1D)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ces1d (carboxylesterase 1D)  Alliance
Canis lupus familiaris (dog) : CES1 (carboxylesterase 1)
Sus scrofa (pig) : CES1 (carboxylesterase 1)
more info ...
Related Pseudogenes: CES1P1   CES1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381655,802,851 - 55,833,127 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371655,836,763 - 55,867,098 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361654,394,264 - 54,424,576 (-)NCBINCBI36hg18NCBI36
Build 341654,394,266 - 54,424,494NCBI
Celera1640,340,608 - 40,363,542 (-)NCBI
Cytogenetic Map16q12.2NCBI
HuRef1641,715,157 - 41,738,637 (-)NCBIHuRef
CHM1_11657,243,691 - 57,273,987 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CES1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1352960
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.