CEL carboxyl ester lipase [Homo sapiens (human)] - Gene

Summary

Official Symbol: CELprovided by HGNC
Official Full Name: carboxyl ester lipaseprovided by HGNC
Primary source: HGNC:HGNC:1848
See related: Ensembl:ENSG00000170835 MIM:114840; AllianceGenome:HGNC:1848
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BAL; FAP; BSDL; BSSL; CELL; FAPP; LIPA; CEase; MODY8
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]
Expression: Restricted expression toward pancreas (RPKM 14647.9) See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.13

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (133061981..133071861)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (145276137..145285985)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (135937368..135947248)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas.
Title: Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas.
Effects of bile salt-stimulated lipase on blood cells and associations with disease activity in human inflammatory joint disorders.
Title: Effects of bile salt-stimulated lipase on blood cells and associations with disease activity in human inflammatory joint disorders.
Triacylglycerols containing branched palmitic acid ester of hydroxystearic acid (PAHSA) are present in the breast milk and hydrolyzed by carboxyl ester lipase.
Title: Triacylglycerols containing branched palmitic acid ester of hydroxystearic acid (PAHSA) are present in the breast milk and hydrolyzed by carboxyl ester lipase.
Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases.
Title: Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases.
Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding.
Title: Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding.
Generation of beta Cells from iPSC of a MODY8 Patient with a Novel Mutation in the Carboxyl Ester Lipase (CEL) Gene.
Title: Generation of β Cells from iPSC of a MODY8 Patient with a Novel Mutation in the Carboxyl Ester Lipase (CEL) Gene.
Protein misfolding in combination with other risk factors in CEL-HYB1-mediated chronic pancreatitis.
Title: Protein misfolding in combination with other risk factors in CEL-HYB1-mediated chronic pancreatitis.
Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells.
Title: Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells.
Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis.
Title: Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis.
No statistical significant difference in the copy number of exon 11 repeats, or combinations of, in the Bile-salt stimulate lipase (BSSL) gene is observed when comparing homosexual male cohort composed of Hepatitis C (HCV) multiple exposed uninfected and multiple exposed HCV infected individuals. The exon 11 repeat copy number in the BSSL gene does not affect HCV susceptibility.
Title: Bile-salt stimulated lipase polymorphisms do not associate with HCV susceptibility.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Maturity-onset diabetes of the young type 8 MedGen: C1853297 OMIM: 609812 GeneReviews: Pancreatitis Overview, Maturity-Onset Diabetes of the Young Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Bile salt-stimulated lipase (BSSL) isolated from human milk binds to DC-SIGN, preventing HIV-1 gp120 from interacting with this receptor	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylesterase activity	IEA Inferred from Electronic Annotation more info
enables catalytic activity	TAS Traceable Author Statement more info	PubMed
enables heparin binding	NAS Non-traceable Author Statement more info	PubMed
enables hydrolase activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables retinyl-palmitate esterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sterol ester esterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sterol ester esterase activity	NAS Non-traceable Author Statement more info	PubMed
enables triacylglycerol lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables triacylglycerol lipase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in ceramide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in intestinal cholesterol absorption	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in pancreatic juice secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in pancreatic juice secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: bile salt-activated lipase

Names: bucelipase; carboxyl ester hydrolase; carboxyl ester lipase (bile salt-stimulated lipase); cholesterol esterase; fetoacinar pancreatic protein; lysophospholipase, pancreatic; sterol esterase

NP_001798.3

EC 3.1.1.13

EC 3.1.1.3

EC 3.1.1.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.