CES1 (carboxylesterase 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1066
Gene name Carboxylesterase 1
Gene symbol CES1
Synonyms (NCBI Gene)
ACATCE-1CEHCES2HMSEHMSE1PCE-1REHSES1TGHhCE-1
Chromosome 16
Chromosome location 16q12.2
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 bon
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT004206 hsa-miR-197-3p Microarray 16822819
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
SP1 Unknown 11409902
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
114835 1863 ENSG00000198848
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 567
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Drug metabolism - other enzymes   Metabolism of Angiotensinogen to Angiotensins
Phase I - Functionalization of compounds
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DRUG METABOLISM, ALTERED, CES1-RELATED Pathogenic rs121912777, rs778068631 RCV000019168
RCV000019169
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CES1-related condition Uncertain significance rs762888069 RCV005363324
clopidogrel response - Efficacy drug response rs71647871 RCV000211163
clopidogrel response - Metabolism/PK drug response rs71647871 RCV001788073
Show/Hide Text Mining Associations (44)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 28775293, 31128980
Acute erythroleukemia Associate 33878036
Angina Unstable Associate 28775293
Atherosclerosis Associate 12837853
Atrial Fibrillation Associate 32899083, 33179295, 37372371
Blood Platelet Disorders Associate 23111421
Cardiomyopathy Restrictive Associate 31037987
Cardiovascular Diseases Associate 31882500
Chest Pain Associate 32899083
Colorectal Neoplasms Associate 31698983, 33878036