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
Show/Hide all (1)
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.
38
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
DRUG METABOLISM, ALTERED, CES1-RELATED Pathogenic rs121912777, rs778068631 RCV000019168
RCV000019169
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (7)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BRAIN INJURIES — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CES1-related condition Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
clopidogrel response - Efficacy drug response ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
clopidogrel response - Metabolism/PK drug response ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (80)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 16410262, 1938565, 25884180, 28216566, 28378055, 29650292
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30637249
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 21319786
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 16410262, 1938565, 25884180, 29650292
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 30666917
★★★★★
★☆☆☆☆
Found in Text Mining only
Angina Unstable Angina pectoris Pubtator 28775293 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 19189937, 23744992, 24563511, 29259301
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 7959739
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 12837853 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 19189937, 23744992, 24563511, 29259301
★★★★★
★☆☆☆☆
Found in Text Mining only