CEL (carboxyl ester lipase)

2003-06-01  

Identity

HGNC
CEL
LOCATION
9q34.13
LOCUSID
1056
ALIAS
BAL,BSDL,BSSL,CELL,CEase,FAP,FAPP,LIPA,MODY8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1056
MIM: 114840
HGNC: 1848
Ensembl: ENSG00000170835

Variants:

dbSNP: 1056
ClinVar: 1056
TCGA: ENSG00000170835
COSMIC: CEL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170835ENST00000372080P19835
ENSG00000170835ENST00000372080X6R868

Expression (GTEx)

0
5000
10000
15000
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Steroid biosynthesisKEGGko00100
Glycerolipid metabolismKEGGko00561
Steroid biosynthesisKEGGhsa00100
Glycerolipid metabolismKEGGhsa00561
Metabolic pathwaysKEGGhsa01100
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Fat digestion and absorptionKEGGko04975
Fat digestion and absorptionKEGGhsa04975
Acylglycerol degradationKEGGhsa_M00098
Acylglycerol degradationKEGGM00098
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Digestion of dietary lipidREACTOMER-HSA-192456

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
lactating breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
257746372015A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.44
170058192006Bile salt-stimulated lipase from human milk binds DC-SIGN and inhibits human immunodeficiency virus type 1 transfer to CD4+ T cells.32
217848422011Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease.27
162662932006Bile-salt-stimulated lipase and mucins from milk of 'secretor' mothers inhibit the binding of Norwalk virus capsids to their carbohydrate ligands.24
128534592003Liver receptor homolog 1 controls the expression of carboxyl ester lipase.21
197602652010Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.20
180379962007Bile salt-dependent lipase interacts with platelet CXCR4 and modulates thrombus formation in mice and humans.14
199489752009Integrative predictive model of coronary artery calcification in atherosclerosis.13
251606202014Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction.12

Citation

Dessen P

CEL (carboxyl ester lipase)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/40052/cel