CEL

The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008]

Full Name

Carboxyl Ester Lipase

Function

Catalyzes the hydrolysis of a wide range of substrates including cholesteryl esters, phospholipids, lysophospholipids, di- and tri-acylglycerols, and fatty acid esters of hydroxy fatty acids (FAHFAs) (PubMed:8471055, PubMed:27509211, PubMed:10220579, PubMed:27650499).
Preferentially hydrolyzes FAHFAs with the ester bond further away from the carboxylate. Unsaturated FAHFAs are hydrolyzed more quickly than saturated FAHFAs (By similarity).
Has an essential role in the complete digestion of dietary lipids and their intestinal absorption, along with the absorption of fat-soluble vitamins (PubMed:8471055, PubMed:27509211, PubMed:10220579, PubMed:27650499).

Biological Process

Ceramide catabolic process Source: Ensembl
Chemical synaptic transmission Source: GO_Central
Cholesterol catabolic process Source: UniProtKB
Fatty acid catabolic process Source: UniProtKB
Intestinal cholesterol absorption Source: UniProtKB
Intestinal lipid catabolic process Source: UniProtKB
Lipid digestion Source: Reactome
Lipid metabolic process Source: UniProtKB
Modulation of chemical synaptic transmission Source: GO_Central
Neuron cell-cell adhesion Source: GO_Central
Pancreatic juice secretion Source: UniProtKB
Postsynaptic membrane assembly Source: GO_Central
Presynaptic membrane assembly Source: GO_Central
Protein esterification Source: UniProtKB
Synaptic vesicle endocytosis Source: GO_Central

Cellular Location

Secreted

Involvement in disease

Maturity-onset diabetes of the young 8 with exocrine dysfunction (MODY8): The disease is caused by variants affecting the gene represented in this entry. Single base deletions in the VNTR-region, that result in frame shift and protein truncation, have been identified as disease causing variants in MODY8 families (PubMed:16369531). An autosomal dominant form of diabetes characterized by a primary defect in insulin secretion, exocrine pancreatic dysfunction, altered pancreatic morphology, recurrent abdominal pain, and fecal elastase deficiency. Disease onset is at less than 25 years of age.

PTM

N- and O-glycosylated.