CEL

Chr 9q34.13

carboxyl ester lipase

Aliases:: BSSL, MODY8
MANE:: ENST00000372080.8

OMIM: 114840 ↗NCBI: 1056 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CEL · P19835

v62025-08-01

Predicted Aligned Error matrix for CEL — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.6/ 100

Confident

753 residues

Confidence breakdown

Very high(≥ 90)66%
Confident(70–90)4%
Low(50–70)13%
Very low(< 50)16%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Familial diabetes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic diabetes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pancreatitis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Diabetes with additional phenotypes suggestive of a monogenic aetiology
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Multi-organ autoimmune diabetes

Disease associations (Open Targets)

MODY
0.70
neurodegenerative disease
0.40
maturity-onset diabetes of the young
0.37
hereditary chronic pancreatitis
0.20
hereditary disease
0.19
monogenic diabetes
0.15
type 2 diabetes mellitus
0.12
Arthritis
0.08
arthritic joint disease
0.08
chronic myelogenous leukemia, BCR-ABL1 positive
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Bile salt-activated lipase

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:10220579, PubMed:27509211, PubMed:27650499, PubMed:8471055). 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:10220579, PubMed:27509211, PubMed:27650499, PubMed:8471055)