CEL Gene - Carboxyl Ester Lipase
Comprehensive gene card for CEL, including genomic context, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | CEL |
|---|---|
| Full Name | Carboxyl Ester Lipase |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 1056 ncbi.nlm.nih.gov/gene/1056 |
| Ensembl ID | ENSG00000170835 |
| UniProt ID | P19835 |
| OMIM ID | 114840 |
| HGNC ID | 1849 |
| Aliases | BAL, BSDL, BSSL, CELL, FAP, FAPP, LIPA, MODY8, pancreatic lipase |
Description
The CEL gene encodes carboxyl ester lipase, also known as bile salt-dependent lipase or pancreatic lipase. This enzyme is synthesized primarily by the pancreas and secreted into the duodenum, where it hydrolyzes cholesteryl esters, triglycerides, and phospholipids. It plays a critical role in dietary fat digestion and absorption. Mutations in CEL are associated with maturity-onset diabetes of the young type 8 (MODY8) and have been implicated in pancreatic cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Maturity-Onset Diabetes of the Young Type 8 (MODY8) | Variable number tandem repeat (VNTR) expansion in the CEL gene leads to a mutant protein that accumulates in pancreatic acinar cells, causing endoplasmic reticulum stress, apoptosis, and progressive pancreatic exocrine and endocrine dysfunction. | OMIM #609812; ClinVar; PMID: 16826531 |
| Pancreatic Cancer | Somatic mutations (e.g., frameshift, missense) in CEL have been identified in pancreatic ductal adenocarcinoma, potentially contributing to tumorigenesis through altered lipid metabolism. | COSMIC; PMID: 22956686 |
| Pancreatitis | Rare CEL variants may predispose to chronic pancreatitis, possibly due to impaired lipase activity or protein misfolding. | ClinVar; PMID: 23981294 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 1284.3 | High |
| Liver | 0.6 | Not detected |
| Small Intestine | 0.2 | Not detected |
| Stomach | 0.1 | Not detected |
| Colon | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 (pancreatic cancer) | 0.0 | Not detected |
| MIA PaCa-2 (pancreatic cancer) | 0.0 | Not detected |
| BxPC-3 (pancreatic cancer) | 0.0 | Not detected |
| HepG2 (liver cancer) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1686delT (p.Phe562Leufs*28) | Frameshift | <0.01% | Loss of function; associated with MODY8 |
| c.1799_1800insC (p.Pro600Profs*9) | Frameshift | <0.01% | Loss of function; associated with MODY8 |
| c.1786C>T (p.Arg596*) | Nonsense | <0.01% | Loss of function; associated with MODY8 |
| c.1685T>C (p.Phe562Ser) | Missense | <0.01% | Uncertain significance; reported in pancreatic cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in the VNTR region of CEL lead to a truncated or misfolded protein that is retained in the endoplasmic reticulum, causing loss of enzymatic activity and cellular toxicity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CEL.
Dominant Negative (DN)
The mutant CEL protein from VNTR expansions is thought to exert a dominant-negative effect by forming aggregates that impair wild-type protein function and induce ER stress.
View complete mutation data：
Gene Ontology (GO)
| • carboxylic ester hydrolase activity (GO:0004091) | • fatty acid binding (GO:0005504) |
| • extracellular space (GO:0005615) | • lipid metabolic process (GO:0006629) |
| • lipase activity (GO:0016298) | • sodium ion binding (GO:0031402) |
| • intracellular membrane-bounded organelle (GO:0043231) |
Pathways
• REACT:1483073 - Digestion of dietary lipid
• REACT:1483082 - Metabolism of lipids and lipoproteins
• REACT:1483085 - Triglyceride metabolism
Protein Summary
Carboxyl ester lipase (CEL) is a 722-amino acid glycoprotein secreted by pancreatic acinar cells. It contains a signal peptide, a catalytic domain with a Ser-Asp-His triad, and a C-terminal variable number tandem repeat (VNTR) region rich in proline and glutamine. The enzyme requires bile salts for activity and is essential for the digestion of dietary cholesteryl esters and fat-soluble vitamins. CEL also exhibits lysophospholipase and phospholipase activities. The VNTR region is polymorphic and mutations in this region cause MODY8.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ECEL1 Knockout HEK293 Cell Line | EDJ-KQ2505 | Human | 9427 | Details Get a Quote |
| CELF1 Knockout HEK293 Cell Line | EDJ-KQ3256 | Human | 10658 | Details Get a Quote |
| CEL Knockout HEK293 Cell Line | EDJ-KQ4249 | Human | 1056 | Details Get a Quote |
| CELSR3 Knockout HEK293 Cell Line | EDJ-KQ4504 | Human | 1951 | Details Get a Quote |
| CELSR2 Knockout HEK293 Cell Line | EDJ-KQ4505 | Human | 1952 | Details Get a Quote |
| CELA1 Knockout HEK293 Cell Line | EDJ-KQ4521 | Human | 1990 | Details Get a Quote |
| SCEL Knockout HEK293 Cell Line | EDJ-KQ6362 | Human | 8796 | Details Get a Quote |
| CELSR1 Knockout HEK293 Cell Line | EDJ-KQ6660 | Human | 9620 | Details Get a Quote |
| CELA3A Knockout HEK293 Cell Line | EDJ-KQ6910 | Human | 10136 | Details Get a Quote |
| CELF2 Knockout HEK293 Cell Line | EDJ-KQ7121 | Human | 10659 | Details Get a Quote |
| CELA3B Knockout HEK293 Cell Line | EDJ-KQ8012 | Human | 23436 | Details Get a Quote |
| TBCEL Knockout HEK293 Cell Line | EDJ-KQ8424 | Human | 219899 | Details Get a Quote |
| CELA2B Knockout HEK293 Cell Line | EDJ-KQ10879 | Human | 51032 | Details Get a Quote |
| CELF4 Knockout HEK293 Cell Line | EDJ-KQ12097 | Human | 56853 | Details Get a Quote |
| CELA2A Knockout HEK293 Cell Line | EDJ-KQ12855 | Human | 63036 | Details Get a Quote |
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