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FLASH GENE

Symbol

CEL

contributors: mct/npt/pgu - updated : 26-03-2010

HGNC name	carboxyl ester lipase (bile salt-stimulated lipase)
HGNC id	1848

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MODY8 diabetes-pancreatic exocrine dysfunction syndrome
Location	9q34.2      Physical location : 135.937.364 - 135.947.248
Synonym name	bile salt-dependent lipase, oncofetal isoform, included
	fetoacinar pancreatic protein
	pancreatic lysophospholipase
	bile salt-stimulated lipase
	bucelipase
Synonym symbol(s)	BSDL, BSSL, FAPP, BAL, CELL, CEase, FAP, FAPP, LIPA
EC.number	3.1.1.3, 3.1.1.13

DNA

TYPE	functioning gene
STRUCTURE	9.88 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (TATA box)
motif	repetitive sequence   other
text structure	VNTR containing 16 repeats in the coding region
	a positive TATA element is identified 43 nucleotides from the start codon
	in the last exon, there is a variable number of tandem repeats (VNTR) where the 33-bp nearly identical segments are repeated usually between 7 and 23 times

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001807 11 - 2384 NP_001798 79 745 - 2011 21784842 full length, with 16 VNTR variant 2 - - 84 isoform 2 - 28 fetal pancreas secreted 1992 1627550 fetoacinar pancreatic protein CEase-like gene lacking the C-terminal alpha-helix and tandem C-terminal repeat region of native BSSL, but retains full catalytic activity, due to premature stop signal in exon 10, shortly after the codon for the active-site histidine

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive pancreas exocrine         Homo sapiens Endocrine pancreas         Homo sapiens Urinary bladder

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Homo sapiens Epithelial secretory glandular exocrine   Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic platelet Digestive acinar Homo sapiens Endocrine islet cell (alpha,beta...)

cell lineage
cell lines
fluid/secretion	secreted in intestine

at STAGE

physiological period

Text	lactation, in mammary gland, milk

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	eight bile salt-binding sites
	a N-glycosylation site
	a region structurally homologous to the V3 loop of HIV-1, which binds to CXC chemokine receptor 4 (CXCR4)
	a tandemly repeated sequence of the 11-amino-acid motif in the C-terminal region, and VNTR-encoded protein C terminus is heavily O-glycosylated in the mature protein, probably on Thr residues before or after PVPP motifs in the first 10 repeats

conjugated

GlycoP , MetalloP

HOMOLOGY

interspecies	homolog to murine Cel
	homolog to rattus cel

Homologene

FAMILY

type-B carboxylesterase/lipase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	stored in platelets and released upon platelet activation
	in the endoplasmic reticulum (ER), the protein is co-translationally N-glycosylated at a conserved Asn residue (Asn-210), serving as a client protein for the molecular chaperone GRP94 and being associated with ER membranes

basic FUNCTION	carboxyl ester lipase, same as liver cholesterol esterase, playing an essential role in the intestinal processing of cholesterol and lipid-soluble vitamins
	enzyme involved in the duodenal hydrolysis and absorption of cholesteryl esters
	also increased the production of prostacyclin by human endothelial cells
	bile salt-stimulated/dependent lipase, secreted into the intestine and activated by bile salts, playing a role in the hydrolysis and absorption of cholesterol- and lipid-soluble vitamins
	plays a role in optimal platelet activation and thrombus formation by interacting with CXCR4 on platelets
	PNLIP and CEL serve complementary functions, working together to mediate the absorption of a major portion of dietary fat and fat-soluble vitamin esters
	carboxyl ester lipase expressed in the acinar cells and secreted as a component of pancreatic juice

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

digestion

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Zn2+

protein	might bind to CXCR4 present on platelets
	client protein for the ER molecular chaperone GRP94, forming a complex that is stabilized by hydrophobic forces

cell & other

REGULATION

activated by

bile salt activated

Other

associated to lipase and colipase for digestion of triglycerides

ASSOCIATED DISORDERS

corresponding disease(s)

MODY8

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       are likely to be a rare cause of monogenic diabetes

Susceptibility

to diabetes with exocrine dysfunction

Variant & Polymorphism repeat	association between common insertions in the VNTR in diabetes with exocrine dysfunction

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

in BSDL(-/-) mice, calcium mobilization in platelets and thrombus formation were attenuated and tail bleeding times were increased in comparison with those of wild-type mice