Cel carboxyl ester lipase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Celprovided by MGI
Official Full Name: carboxyl ester lipaseprovided by MGI
Primary source: MGI:MGI:88374
See related: Ensembl:ENSMUSG00000026818 AllianceGenome:MGI:88374
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: BAL; BSSL; 1810036E18Rik
Summary: Predicted to enable several functions, including carboxylic ester hydrolase activity; glycosphingolipid binding activity; and neurexin family protein binding activity. Acts upstream of or within ceramide catabolic process. Predicted to be located in several cellular components, including membrane raft; rough endoplasmic reticulum; and zymogen granule. Predicted to be part of protein-containing complex. Predicted to be active in cell surface and synapse. Predicted to be integral component of postsynaptic specialization membrane. Is expressed in several structures, including gut and mammary gland. Human ortholog(s) of this gene implicated in lipomatosis; maturity-onset diabetes of the young type 8; type 1 diabetes mellitus; and type 2 diabetes mellitus. Orthologous to human CEL (carboxyl ester lipase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in small intestine adult (RPKM 1159.1), spleen adult (RPKM 615.2) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 19.38 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (28445831..28453415, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (28555819..28563403, complement)

Chromosome 2 - NC_000068.8 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in Mice.
Title: The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in Mice.
Carboxyl Ester Lipase May Not Mediate Lipotoxic Injury during Severe Acute Pancreatitis.
Title: Carboxyl Ester Lipase May Not Mediate Lipotoxic Injury during Severe Acute Pancreatitis.
BSSL is a key player in the inflammatory process of arthritis.
Title: Bile salt-stimulated lipase plays an unexpected role in arthritis development in rodents.
CEL-MUT protein has a high propensity to form aggregates found intracellularly and extracellularly; CEL-MODY is a protein misfolding disease
Title: Diabetes 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.
Bile salt-stimulated lipase (BSSL) and PLRP2 is responsible for fat digestion as long as milk is the main food. Milk-borne BSSL is able to compensate for a slower ontogeny of pancreatic BSSL expression in the mouse.
Title: Bile salt-stimulated lipase and pancreatic lipase-related protein 2 are the dominating lipases in neonatal fat digestion in mice and rats.
BSDL plays a role in optimal platelet activation and thrombus formation by interacting with CXCR4 on platelets.
Title: Bile salt-dependent lipase interacts with platelet CXCR4 and modulates thrombus formation in mice and humans.
PTL and CEL serve complementary functions, working together to mediate the absorption of a major portion of dietary fat and fat-soluble vitamin esters
Title: Carboxyl ester lipase deficiency exacerbates dietary lipid absorption abnormalities and resistance to diet-induced obesity in pancreatic triglyceride lipase knockout mice.
CEL expression in macrophages is pro-atherogenic through hydrolysis of ceramide and lysophosphatidylcholine in promoting cholesterol esterification and decreasing cholesterol efflux
Title: Carboxyl ester lipase expression in macrophages increases cholesteryl ester accumulation and promotes atherosclerosis.
the splice variant NF1-C2 as an important member of a tissue-specific activating complex that regulates the milk gene encoding carboxyl ester lipase (CEL)
Title: Nuclear factor 1-C2 contributes to the tissue-specific activation of a milk protein gene in the differentiating mammary gland.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (3)

General gene information

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Markers

Cel (e-PCR), detects polymorphism
- UniSTS:141322

U37386 (e-PCR)
- UniSTS:158940

RH132776 (e-PCR)
- UniSTS:216059

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acetylesterase activity	IEA Inferred from Electronic Annotation more info
enables carboxylic ester hydrolase activity	IEA Inferred from Electronic Annotation more info
enables glycosphingolipid binding	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables lysophospholipase activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables retinyl-palmitate esterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables retinyl-palmitate esterase activity	ISO Inferred from Sequence Orthology more info
enables sterol esterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sterol esterase activity	ISO Inferred from Sequence Orthology more info
enables triglyceride lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables triglyceride lipase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in ceramide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ceramide catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intestinal cholesterol absorption	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in pancreatic juice secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in pancreatic juice secretion	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in zymogen granule	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: bile salt-activated lipase

Names: bile salt-stimulated lipase; cholesterol esterase; pancreatic lysophospholipase; sterol esterase

NP_034015.1

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.

mRNA and Protein(s)

NM_009885.2 → NP_034015.1 bile salt-activated lipase precursor

See identical proteins and their annotated locations for NP_034015.1

Status: VALIDATED

Source sequence(s)

AK131818, AL772249

Consensus CDS

CCDS15841.1

UniProtKB/Swiss-Prot

Q64285

UniProtKB/TrEMBL

Q3V2H7, Q922R3

Related

ENSMUSP00000028161.6, ENSMUST00000028161.6

Conserved Domains (2) summary

COG0657
Location:117 → 247

Aes; Acetyl esterase/lipase [Lipid transport and metabolism]

pfam00135
Location:26 → 542

COesterase; Carboxylesterase family