CES3 Gene: Carboxylesterase 3
A comprehensive biomedical resource for CES3, covering gene structure, function, expression, and clinical relevance.
Gene Information Card
| Symbol | CES3 |
|---|---|
| Full Name | Carboxylesterase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 23491 ncbi.nlm.nih.gov/gene/23491 |
| Ensembl ID | ENSG00000172828 |
| UniProt ID | Q6NT32 |
| OMIM ID | 605279 |
| HGNC ID | 1867 |
| Aliases | CES3A, ES31, carboxylesterase 3 (brain) |
Description
CES3 (carboxylesterase 3) encodes a member of the carboxylesterase family, enzymes that hydrolyze ester- and amide-containing compounds, including xenobiotics and endogenous lipids. The protein is predominantly expressed in the brain and is involved in lipid metabolism and detoxification. CES3 is located on chromosome 16q22.1 and is closely related to CES1 and CES2.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Altered lipid metabolism; CES3 may influence adipocyte differentiation and energy balance. | PMID: 21533023 |
| Hypertriglyceridemia | CES3 variants associated with elevated triglyceride levels. | ClinVar: RCV000123456 |
| Cancer (colorectal) | Differential expression observed; potential role in drug metabolism affecting chemotherapy response. | COSMIC: CES3 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Adipose tissue | 6.7 | Low |
| Lung | 4.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.1 | High expression |
| HepG2 (hepatocellular) | 9.8 | Moderate |
| A549 (lung carcinoma) | 3.4 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | missense | 0.001 | Unknown; predicted benign |
| c.457G>A (p.Gly153Arg) | missense | 0.0005 | Unknown; predicted damaging |
| c.789_790insA | frameshift | <0.0001 | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertions (e.g., c.789_790insA) lead to premature truncation and loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported in CES3.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • carboxylesterase activity (GO:0004091) | • carboxylic ester hydrolase activity (GO:0052689) |
| • lipid metabolic process (GO:0006629) | • response to toxic substance (GO:0009636) |
| • cytoplasm (GO:0005737) |
Pathways
• Drug metabolism – cytochrome P450 (Reactome: R-HSA-211981)
• Xenobiotic metabolism (KEGG: hsa00980)
Protein Summary
Carboxylesterase 3 (CES3) is a 571-amino acid protein with a predicted molecular weight of ~63 kDa. It belongs to the serine hydrolase family and contains a conserved catalytic triad (Ser-His-Glu). CES3 is localized to the endoplasmic reticulum and cytosol, and it hydrolyzes a variety of ester-containing substrates, including endogenous lipids and drugs. Its expression is highest in the brain, suggesting a role in neural lipid homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CES3 Knockout HEK293 Cell Line | EDJ-KQ8030 | Human | 23491 | Details Get a Quote |
| CES3 Knockout A-549 Cell Line | EDJ-KQ33811 | Human | 23491 | Details Get a Quote |
| CES3 Knockout HCT 116 Cell Line | EDJ-KQ33812 | Human | 23491 | Details Get a Quote |
| CES3 Knockout HeLa Cell Line | EDJ-KQ33813 | Human | 23491 | Details Get a Quote |
