CEL (carboxyl ester lipase)

Gene

• Entrez ID: 1056
• Gene name: Carboxyl ester lipase
• Gene symbol: CEL
• Synonyms: BAL, BSDL, BSSL, CELL, CEase, FAP, FAPP, LIPA, MODY8
• Chromosome: 9
• Chromosome location: 9q34.13
• Summary: 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017217	hsa-miR-335-5p	Microarray	18185580

Transcription factors

Transcription factor	Regulation	Reference
PTF1A	Unknown	11023822
STAT5A	Unknown	9841868
STAT5B	Unknown	9841868

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	TAS	2265692
GO:0004771	Function	Sterol esterase activity	IBA	21873635
GO:0004771	Function	Sterol esterase activity	NAS	12031288
GO:0004806	Function	Triglyceride lipase activity	IBA	21873635
GO:0004806	Function	Triglyceride lipase activity	NAS	2265692
GO:0005515	Function	Protein binding	IPI	11834744
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005737	Component	Cytoplasm	ISS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0006629	Process	Lipid metabolic process	NAS	8639615
GO:0006707	Process	Cholesterol catabolic process	IDA	12031288
GO:0006707	Process	Cholesterol catabolic process	NAS	7578248
GO:0007158	Process	Neuron cell-cell adhesion	IBA	21873635
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0008126	Function	Acetylesterase activity	IEA
GO:0008201	Function	Heparin binding	NAS	7578248
GO:0009062	Process	Fatty acid catabolic process	NAS	7578248
GO:0009986	Component	Cell surface	IBA	21873635
GO:0016787	Function	Hydrolase activity	TAS	2265692
GO:0018350	Process	Protein esterification	NAS	7578248
GO:0030157	Process	Pancreatic juice secretion	IDA	1854805
GO:0030299	Process	Intestinal cholesterol absorption	NAS	12031288
GO:0038023	Function	Signaling receptor activity	IBA	21873635
GO:0042043	Function	Neurexin family protein binding	IBA	21873635
GO:0044241	Process	Lipid digestion	TAS
GO:0044258	Process	Intestinal lipid catabolic process	NAS	7578248
GO:0045202	Component	Synapse	IBA	21873635
GO:0046514	Process	Ceramide catabolic process	IEA
GO:0048488	Process	Synaptic vesicle endocytosis	IBA	21873635
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0097104	Process	Postsynaptic membrane assembly	IBA	21873635
GO:0097105	Process	Presynaptic membrane assembly	IBA	21873635
GO:0098793	Component	Presynapse	IEA

Other IDs

• MIM: 114840
• HGNC: 1848
• e!Ensembl: ENSG00000170835

Protein

• UniProt ID: P19835
• Protein name: Bile salt-activated lipase (BAL) (EC 3.1.1.13) (EC 3.1.1.3) (EC 3.1.1.6) (Bile salt-stimulated lipase) (BSSL) (Bucelipase) (Carboxyl ester lipase) (Cholesterol esterase) (Pancreatic lysophospholipase) (Sterol esterase)
• Protein 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).
• PDB: 1F6W, 1JMY, 6H0T, 6H0V, 6H18, 6H19, 6H1A
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00135	COesterase	23 → 542	Carboxylesterase family	Domain
  PF16058	Mucin-like	561 → 660	Mucin-like	Family
  PF16058	Mucin-like	649 → 749	Mucin-like	Family

• Sequence:

  MGRLQLVVLGLTCCWAVASAAKLGAVYTEGGFVEGVNKKLGLLGDSVDIFKGIPFAAPTK
  ALENPQPHPGWQGTLKAKNFKKRCLQATITQDSTYGDEDCLYLNIWVPQGRKQVSRDLPV
  MIWIYGGAFLMGSGHGANFLNNYLYDGEEIATRGNVIVVTFNYRVGPLGFLSTGDANLPG
  NYGLRDQHMAIAWVKRNIAAFGGDPNNITLFGESAGGASVSLQTLSPYNKGLIRRAISQS
  GVALSPWVIQKNPLFWAKKVAEKVGCPVGDAARMAQCLKVTDPRALTLAYKVPLAGLEYP
  MLHYVGFVPVIDGDFIPADPINLYANAADIDYIAGTNNMDGHIFASIDMPAINKGNKKVT
  EEDFYKLVSEFTITKGLRGAKTTFDVYTESWAQDPSQENKKKTVVDFETDVLFLVPTEIA
  LAQHRANAKSAKTYAYLFSHPSRMPVYPKWVGADHADDIQYVFGKPFATPTGYRPQDRTV
  SKAMIAYWTNFAKTGDPNMGDSAVPTHWEPYTTENSGYLEITKKMGSSSMKRSLRTNFLR
  YWTLTYLALPTVTDQEATPVPPTGDSEATPVPPTGDSETAPVPPTGDSGAPPVPPTGDSG
  APPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVP
  PTGDSGAPPVPPTGDAGPPPVPPTGDSGAPPVPPTGDSGAPPVTPTGDSETAPVPPTGDS
  GAPPVPPTGDSEAAPVPPTDDSKEAQMPAVIRF

• Sequence length: 753

Pathways

KEGG:

Steroid biosynthesis
Glycerolipid metabolism
Metabolic pathways
Pancreatic secretion
Fat digestion and absorption

Associated diseases

Disease name	Disease term	References
	Congenital Hyperinsulinism
	Hyperinsulinemic hypoglycemia
	Congenital hypoplasia of pancreas
	Transient neonatal diabetes mellitus
	Exocrine pancreatic insufficiency
	Hepatocellular Adenoma
	Hyperglycemia
	Hypoinsulinaemia (disorder)
	Kidney Diseases
	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION	16369531, 25160620
	Maturity onset diabetes mellitus in young	21844708
	MODY
	Neonatal hypoglycemia
	Obesity
	Pancreatitis, Chronic	25774637
	Simple renal cyst
	Retinal Diseases