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 su... See more...

Aliases for CEL Gene

Aliases for CEL Gene

  • Carboxyl Ester Lipase 2 3 4 5
  • BSSL 2 3 4
  • Bile Salt-Stimulated Lipase 2 4
  • Bile Salt-Activated Lipase 3 4
  • Cholesterol Esterase 3 4
  • Sterol Esterase 3 4
  • Bucelipase 3 4
  • MODY8 2 3
  • BAL 3 4
  • Carboxyl Ester Lipase (Bile Salt-Stimulated Lipase) 3
  • Fetoacinar Pancreatic Protein 3
  • Lysophospholipase, Pancreatic 3
  • Pancreatic Lysophospholipase 4
  • Carboxyl Ester Hydrolase 3
  • EC 3.1.1.13 4
  • EC 3.1.1.3 4
  • EC 3.1.1.6 4
  • EC 3.1.1 50
  • CEase 3
  • BSDL 3
  • CELL 3
  • FAPP 3
  • LIPA 3
  • FAP 3
  • CEL 5

External Ids for CEL Gene

Previous GeneCards Identifiers for CEL Gene

  • GC09P056378
  • GC09P127494
  • GC09P129291
  • GC09P131213
  • GC09P132966
  • GC09P134927
  • GC09P135937

Summaries for CEL Gene

Entrez Gene Summary for CEL Gene

  • 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]

GeneCards Summary for CEL Gene

CEL (Carboxyl Ester Lipase) is a Protein Coding gene. Diseases associated with CEL include Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction and Maturity-Onset Diabetes Of The Young. Among its related pathways are Salivary secretion and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity and carboxylic ester hydrolase activity. An important paralog of this gene is NLGN3.

UniProtKB/Swiss-Prot Summary for CEL Gene

  • 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).

Tocris Summary for CEL Gene

  • Lipases are esterase enzymes that catalyze the hydrolysis of ester bonds within hydrophobic lipids. The diverse class of lipase enzymes includes diacylglycerol lipase (DAGL) and lipoprotein lipase (LPL) and endothelial lipase (LIPG).

Gene Wiki entry for CEL Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEL Gene

Genomics for CEL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CEL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J133059 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 258.7 -1.4 -1380 2.6 BCLAF1 NCOR1 ZNF600 ZNF10 NFIC ZIC2 NBN TAL1 THRB NFE2 CEL RALGDS HSALNG0074965 GTF3C5 RF00017-7432
GH09J133062 Promoter/Enhancer 0.7 Ensembl dbSUPER 250.7 +0.6 619 1.2 ZIC2 GLIS1 CEL HSALNG0074968 RALGDS RF00017-7432
GH09J133063 Enhancer 0.4 Ensembl dbSUPER 250.7 +1.8 1820 0.4 CTCF CEL HSALNG0074968 RALGDS RF00017-7432
GH09J133029 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 7.3 -31.4 -31380 3.6 BCLAF1 SP1 ZNF207 MYC NCOR1 IKZF1 ZNF600 SIX5 ZNF580 ATF2 GTF3C5 LOC105376306 RF00017-7434 SETX TTF1 MED22 TSC1 DDX31 GTF3C4 SPACA9
GH09J133054 Enhancer 1 ENCODE dbSUPER 8.5 -5.3 -5283 5.1 BCLAF1 NCOR1 ZNF600 ZIC2 ZNF513 NBN NFE2 ZFP91 IRF9 ZNF318 HSALNG0074965 CEL GTF3C5 HSALNG0074964 RF00017-7432
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEL

Top Transcription factor binding sites by QIAGEN in the CEL gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • c-Fos

Genomic Locations for CEL Gene

Latest Assembly
chr9:133,061,981-133,071,861
(GRCh38/hg38)
Size:
9,881 bases
Orientation:
Plus strand

Previous Assembly
chr9:135,937,368-135,947,248
(GRCh37/hg19 by Entrez Gene)
Size:
9,881 bases
Orientation:
Plus strand

chr9:135,937,365-135,947,248
(GRCh37/hg19 by Ensembl)
Size:
9,884 bases
Orientation:
Plus strand

Genomic View for CEL Gene

Genes around CEL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEL Gene

Proteins for CEL Gene

  • Protein details for CEL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19835-CEL_HUMAN
    Recommended name:
    Bile salt-activated lipase
    Protein Accession:
    P19835
    Secondary Accessions:
    • Q16398
    • Q5T7U7
    • Q9UCH1
    • Q9UP41

    Protein attributes for CEL Gene

    Size:
    753 amino acids
    Molecular mass:
    79322 Da
    Quaternary structure:
    • Interacts with CLC.
    SequenceCaution:
    • Sequence=AAA51973.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAA52014.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAC26514.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA38325.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW88033.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CEL Gene

    Alternative splice isoforms for CEL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEL Gene

Selected DME Specific Peptides for CEL Gene

P19835:
  • FKGIPFA
  • NIAAFGG

Post-translational modifications for CEL Gene

  • N- and O-glycosylated.
  • Glycosylation at Asn207, Thr558, Thr569, Thr579, Thr607, Thr618, Thr629, Thr640, Thr651, Thr662, and Thr673
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CEL_HUMAN (74)

Other Protein References for CEL Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CEL Gene

Gene Families for CEL Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CEL Gene

GenScript: Design optimal peptide antigens:
  • Sterol esterase (CEL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P19835

UniProtKB/Swiss-Prot:

CEL_HUMAN :
  • Belongs to the type-B carboxylesterase/lipase family.
Family:
  • Belongs to the type-B carboxylesterase/lipase family.
genes like me logo Genes that share domains with CEL: view

Function for CEL Gene

Molecular function for CEL Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+); Xref=Rhea:RHEA:12044, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17855, ChEBI:CHEBI:18035, ChEBI:CHEBI:28868; EC=3.1.1.3; Evidence={ECO:0000269|PubMed:8471055};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2,3-tri-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + di-(9Z)-octadecenoylglycerol + H(+); Xref=Rhea:RHEA:38575, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:53753, ChEBI:CHEBI:75945; Evidence={ECO:0000269|PubMed:10220579};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2,3-trioctanoylglycerol + H2O = dioctanoylglycerol + H(+) + octanoate; Xref=Rhea:RHEA:47864, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:25646, ChEBI:CHEBI:76978, ChEBI:CHEBI:88066; Evidence={ECO:0000269|PubMed:27650499};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a sterol ester + H2O = a fatty acid + a sterol + H(+); Xref=Rhea:RHEA:10100, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15889, ChEBI:CHEBI:28868, ChEBI:CHEBI:35915; EC=3.1.1.13; Evidence={ECO:0000269|PubMed:8471055};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesteryl (9Z-octadecenoate) + H2O = (9Z)-octadecenoate + cholesterol + H(+); Xref=Rhea:RHEA:33875, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16113, ChEBI:CHEBI:30823, ChEBI:CHEBI:46898; Evidence={ECO:0000250|UniProtKB:P07882};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an acetyl ester + H2O = acetate + an aliphatic alcohol + H(+); Xref=Rhea:RHEA:12957, ChEBI:CHEBI:2571, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:47622; EC=3.1.1.6; Evidence={ECO:0000269|PubMed:10220579};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a butanoate ester + H2O = an aliphatic alcohol + butanoate + H(+); Xref=Rhea:RHEA:47348, ChEBI:CHEBI:2571, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17968, ChEBI:CHEBI:50477; Evidence={ECO:0000250|UniProtKB:P07882};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=9-hexadecanoyloxy-octadecanoate + H2O = 9-hydroxy-octadecanoate + H(+) + hexadecanoate; Xref=Rhea:RHEA:52052, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:83670, ChEBI:CHEBI:136286; Evidence={ECO:0000269|PubMed:27509211};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=9-(9Z-octadecenoyloxy)-octadecanoate + H2O = (9Z)-octadecenoate + 9-hydroxy-octadecanoate + H(+); Xref=Rhea:RHEA:52048, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:136282, ChEBI:CHEBI:136286; Evidence={ECO:0000269|PubMed:27509211};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-sn-glycero-3-phosphocholine + H2O = H(+) + hexadecanoate + sn-glycerol 3-phosphocholine; Xref=Rhea:RHEA:40435, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16870, ChEBI:CHEBI:72998; Evidence={ECO:0000250|UniProtKB:P07882};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=12-hexadecanoyloxy-octadecanoate + H2O = 12-hydroxyoctadecanoate + H(+) + hexadecanoate; Xref=Rhea:RHEA:52056, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:83677, ChEBI:CHEBI:84201; Evidence={ECO:0000250|UniProtKB:Q64285};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=12-(9Z-octadecenoyloxy)-octadecanoate + H2O = (9Z)-octadecenoate + 12-hydroxyoctadecanoate + H(+); Xref=Rhea:RHEA:52060, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:84201, ChEBI:CHEBI:136302; Evidence={ECO:0000250|UniProtKB:Q64285};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=13-(9Z-octadecenoyloxy)-octadecanoate + H2O = (9Z)-octadecenoate + 13-hydroxy-octadecanoate + H(+); Xref=Rhea:RHEA:52064, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:136303, ChEBI:CHEBI:136304; Evidence={ECO:0000250|UniProtKB:Q64285};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=9-(9Z-hexadecenoyloxy)-octadecanoate + H2O = (9Z)-hexadecenoate + 9-hydroxy-octadecanoate + H(+); Xref=Rhea:RHEA:52068, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32372, ChEBI:CHEBI:136286, ChEBI:CHEBI:136309; Evidence={ECO:0000250|UniProtKB:Q64285};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=12-(9Z-hexadecenoyloxy)-octadecanoate + H2O = (9Z)-hexadecenoate + 12-hydroxyoctadecanoate + H(+); Xref=Rhea:RHEA:52072, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32372, ChEBI:CHEBI:84201, ChEBI:CHEBI:136312; Evidence={ECO:0000250|UniProtKB:Q64285};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=13-(9Z-hexadecenoyloxy)-octadecanoate + H2O = (9Z)-hexadecenoate + 13-hydroxy-octadecanoate + H(+); Xref=Rhea:RHEA:52076, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32372, ChEBI:CHEBI:136304, ChEBI:CHEBI:136315; Evidence={ECO:0000250|UniProtKB:Q64285};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=12-octadecanoyloxy-octadecanoate + H2O = 12-hydroxyoctadecanoate + H(+) + octadecanoate; Xref=Rhea:RHEA:52080, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:25629, ChEBI:CHEBI:84201, ChEBI:CHEBI:136330; Evidence={ECO:0000250|UniProtKB:Q64285};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=13-octadecanoyloxy-octadecanoate + H2O = 13-hydroxy-octadecanoate + H(+) + octadecanoate; Xref=Rhea:RHEA:52084, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:25629, ChEBI:CHEBI:136304, ChEBI:CHEBI:136335; Evidence={ECO:0000250|UniProtKB:Q64285};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5-(9Z-hexadecenoyloxy)-octadecanoate + H2O = (9Z)-hexadecenoate + 5-hydroxy-octadecanoate + H(+); Xref=Rhea:RHEA:52092, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32372, ChEBI:CHEBI:136369, ChEBI:CHEBI:136370; Evidence={ECO:0000250|UniProtKB:Q64285};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=9-octadecanoyloxy-octadecanoate + H2O = 9-hydroxy-octadecanoate + H(+) + octadecanoate; Xref=Rhea:RHEA:52096, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:25629, ChEBI:CHEBI:136286, ChEBI:CHEBI:136373; Evidence={ECO:0000250|UniProtKB:Q64285};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=24 uM for lipoyl-4-aminobenzoate {ECO:0000269|PubMed:8471055}; KM=15 uM for triacetin {ECO:0000269|PubMed:8471055}; Vmax=45.5 pmol/min/mg enzyme toward lipoyl-4-aminobenzoate {ECO:0000269|PubMed:8471055}; Vmax=323 pmol/min/mg enzyme toward triacetin {ECO:0000269|PubMed:8471055};
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by bile salts such as sodium taurocholate.
GENATLAS Biochemistry:
carboxyl ester lipase,expressed in pancreas and in mammary gland during lactation, ?same as liver cholesterol esterase

Enzyme Numbers (IUBMB) for CEL Gene

Phenotypes From GWAS Catalog for CEL Gene

Gene Ontology (GO) - Molecular Function for CEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity TAS 2265692
GO:0004771 sterol esterase activity NAS 12031288
GO:0004806 triglyceride lipase activity IBA,NAS 2265692
GO:0005515 protein binding IPI 11834744
GO:0008126 acetylesterase activity IEA --
genes like me logo Genes that share ontologies with CEL: view
genes like me logo Genes that share phenotypes with CEL: view

Human Phenotype Ontology for CEL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CEL Gene

MGI Knock Outs for CEL:
  • Cel Cel<tm1Dyh>
  • Cel Cel<tm1Eaf>

miRNA for CEL Gene

miRTarBase miRNAs that target CEL

No data available for Transcription Factor Targets and HOMER Transcription for CEL Gene

Localization for CEL Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEL Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CEL gene
Compartment Confidence
extracellular 5
plasma membrane 4
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
golgi apparatus 2
cytoskeleton 1
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for CEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space HDA 16502470
GO:0005737 cytoplasm ISS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0009986 cell surface IBA 21873635
genes like me logo Genes that share ontologies with CEL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CEL Gene

Pathways & Interactions for CEL Gene

genes like me logo Genes that share pathways with CEL: view

Gene Ontology (GO) - Biological Process for CEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process NAS 8639615
GO:0006707 cholesterol catabolic process NAS 7578248
GO:0007158 neuron cell-cell adhesion IBA 21873635
GO:0007268 chemical synaptic transmission IBA 21873635
GO:0009062 fatty acid catabolic process NAS 7578248
genes like me logo Genes that share ontologies with CEL: view

No data available for SIGNOR curated interactions for CEL Gene

Drugs & Compounds for CEL Gene

(49) Drugs for CEL Gene - From: DrugBank, ClinicalTrials, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Taurocholic acid Approved, Experimental Pharma Target 0
cholesterol Approved, Investigational Pharma 0
Orlistat Approved, Investigational Pharma Lipase inhibitor for obesity treatment, Pancreatic, gastric and carboxylester lipase inhibitor; antiobesity and antihypercholesterolemic activity 63
Palmitic Acid Approved Pharma 27
Stearic acid Approved, Experimental Pharma 0

(86) Additional Compounds for CEL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
aminoacetone
  • 1-Amino-2-propanone
  • 1-AMINO-propan-2-one
  • 1-Amino-(8ci,9ci)-2-propanone
  • 1-Aminopropan-2-one
  • alpha-Aminoacetone
298-08-8
Arachidic acid
  • Arachic acid
  • Arachidinic acid
  • Arachinsaeure
  • C20:0
  • CH3-[CH2]18-COOH
506-30-9
CE(10:0)
  • 3b-(Decanoyloxy)-5-cholestene
  • 5-Cholesten-3b-ol caprate
  • Cholest-5-en-3b-ol caprate
  • Cholesterol 3-decanoate
  • Cholesterol 3-decanoic acid
1183-04-6
CE(12:0)
  • (3beta)-Cholest-5-en-3-ol dodecanoate
  • (3beta)-Cholest-5-en-3-ol dodecanoic acid
  • 12:0 Cholesterol ester
  • Cholest-5-en-3-beta-yl laurate
  • Cholest-5-en-3-yl laurate
1908-11-8
CE(14:0)
  • 1-Myristoyl-cholesterol
  • CE(14:0/0:0)
  • Cholesterol 1-tetradecanoic acid
  • Cholesterol ester(14:0)
  • Cholesterol ester(14:0/0:0)
1989-52-2

(3) Tocris Compounds for CEL Gene

Compound Action Cas Number
GSK 264220A Endothelial lipase and lipoprotein lipase inhibitor 685506-42-7
Orlistat Pancreatic, gastric and carboxylester lipase inhibitor; antiobesity and antihypercholesterolemic activity 96829-58-2
XEN 445 Selective endothelial lipase inhibitor; orally bioavailable 1515856-92-4
genes like me logo Genes that share compounds with CEL: view

Transcripts for CEL Gene

mRNA/cDNA for CEL Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for CEL Gene

No ASD Table

Relevant External Links for CEL Gene

GeneLoc Exon Structure for
CEL

Expression for CEL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CEL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CEL Gene

This gene is overexpressed in Pancreas (x52.4).

Protein differential expression in normal tissues from HIPED for CEL Gene

This gene is overexpressed in Milk (31.3), Pancreatic juice (29.0), and Pancreas (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CEL Gene



Protein tissue co-expression partners for CEL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEL

SOURCE GeneReport for Unigene cluster for CEL Gene:

Hs.533258

mRNA Expression by UniProt/SwissProt for CEL Gene:

P19835-CEL_HUMAN
Tissue specificity: Mammary gland and pancreas. Detected in pancreatic and duodenal juice (at protein level) (PubMed:21784842). Expressed by eosinophils.

Evidence on tissue expression from TISSUES for CEL Gene

  • Pancreas(4.9)
  • Intestine(2.5)
  • Nervous system(2.3)
  • Blood(2.3)
  • Stomach(2.3)
  • Heart(2.1)
  • Muscle(2.1)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CEL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • nervous
  • reproductive
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
Thorax:
  • heart
Abdomen:
  • kidney
  • pancreas
Pelvis:
  • penis
  • placenta
  • uterus
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CEL: view

Primer products for research

Orthologs for CEL Gene

This gene was present in the common ancestor of animals.

Orthologs for CEL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CEL 29 30
  • 94.92 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CEL 29 30
  • 83.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CEL 29 30
  • 82.55 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CEL 30
  • 81 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Cel 29 16 30
  • 79.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cel 29
  • 78.64 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CEL 30
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CEL 29 30
  • 67.57 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CEL 30
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100492444 29
  • 65.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia cel-prov 29
Zebrafish
(Danio rerio)
Actinopterygii cel.2 29 30
  • 61.93 (n)
OneToMany
cel.1 30
  • 57 (a)
OneToMany
wufb62e11 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1369 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001722 29
  • 49.59 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Est-P 31
  • 32 (a)
Est-6 31
  • 31 (a)
alpha-Est10 31
  • 31 (a)
CG6018 31
  • 30 (a)
Jhe 31
  • 30 (a)
CG10175 31
  • 29 (a)
clt 31
  • 29 (a)
alpha-Est2 31
  • 29 (a)
alpha-Est5 31
  • 29 (a)
alpha-Est7 31
  • 29 (a)
alpha-Est8 31
  • 29 (a)
CG7529 31
  • 28 (a)
CG8424 31
  • 28 (a)
alpha-Est1 31
  • 28 (a)
alpha-Est4 31
  • 28 (a)
alpha-Est6 31
  • 28 (a)
alpha-Est9 31
  • 28 (a)
CG9289 31
  • 28 (a)
CG10339 31
  • 27 (a)
Glt 31
  • 25 (a)
Nlg1 30
  • 13 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea R173.3 31
  • 40 (a)
B0238.13 31
  • 34 (a)
F15A8.6 31
  • 30 (a)
B0238.7 31
  • 29 (a)
Y71H2AM.13 31
  • 29 (a)
B0238.1 31
  • 28 (a)
ges-1 31
  • 28 (a)
C52A10.2 31
  • 28 (a)
F55D10.3 31
  • 27 (a)
T28C12.4a 31
  • 27 (a)
T28C12.4b 31
  • 27 (a)
K11G9.3 31
  • 27 (a)
T02B5.1 31
  • 26 (a)
K11G9.1 31
  • 25 (a)
T02B5.3 31
  • 25 (a)
nlg-1 30
  • 20 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 35 (a)
OneToMany
-- 30
  • 34 (a)
OneToMany
-- 30
  • 29 (a)
OneToMany
-- 30
  • 29 (a)
OneToMany
-- 30
  • 27 (a)
OneToMany
Species where no ortholog for CEL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CEL Gene

ENSEMBL:
Gene Tree for CEL (if available)
TreeFam:
Gene Tree for CEL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CEL: view image
Alliance of Genome Resources:
Additional Orthologs for CEL

Paralogs for CEL Gene

Paralogs for CEL Gene

(11) SIMAP similar genes for CEL Gene using alignment to 1 proteins:

  • CEL_HUMAN

Pseudogenes.org Pseudogenes for CEL Gene

genes like me logo Genes that share paralogs with CEL: view

Variants for CEL Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CEL Gene

CEL_HUMAN-P19835
The variable number of tandem repeats (VNTR)-region in exon 11 is highly polymorphic, and VNTR number varies between 3 and 23. The most common allele contains 16 repeats (PubMed:12166660, PubMed:16369531, PubMed:19760265). Some alleles contain common single base insertions in the VNTR region that are predicted to lead to protein truncation and may be associated with an increased risk of exocrine pancreatic dysfunction in autoimmune diabetes (PubMed:16369531).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEL Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
1030479 Uncertain Significance: Maturity-onset diabetes of the young type 8 133,070,576(+) G/A
NM_001807.6(CEL):c.1402G>A (p.Ala468Thr)
MISSENSE
1032002 Pathogenic: Maturity-onset diabetes of the young type 8 133,071,501(+) GC/G
NM_001807.6(CEL):c.2007del (p.Val670fs)
FRAMESHIFT
1032003 Pathogenic: Maturity-onset diabetes of the young type 8 133,071,501(+) G/GC
NM_001807.6(CEL):c.2007dup (p.Val670fs)
FRAMESHIFT
1032004 Uncertain Significance: Maturity-onset diabetes of the young type 8 133,071,531(+) G/T
NM_001807.6(CEL):c.2029G>T (p.Gly677Trp)
MISSENSE
1032005 Pathogenic: Maturity-onset diabetes of the young type 8 133,071,533(+) GC/G
NM_001807.6(CEL):c.2040del (p.Val681fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CEL Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CEL Gene

Variant ID Type Subtype PubMed ID
dgv1242n67 CNV gain 20364138
dgv12925n54 CNV gain 21841781
dgv12926n54 CNV loss 21841781
esv26702 CNV gain 19812545
esv2739138 CNV deletion 23290073
esv2739148 CNV deletion 23290073
esv2761264 CNV loss 21179565
esv2764128 CNV gain+loss 21179565
esv33978 CNV gain+loss 17666407
esv3573407 CNV loss 25503493
esv3573409 CNV loss 25503493
esv3576709 CNV gain 25503493
esv3621931 CNV loss 21293372
esv3621932 CNV gain 21293372
esv3621933 CNV loss 21293372
esv3891731 CNV loss 25118596
nsv1161913 CNV duplication 26073780
nsv1161914 CNV deletion 26073780
nsv442165 CNV gain 18776908
nsv466606 CNV loss 19166990
nsv508564 CNV deletion 20534489
nsv615596 CNV loss 21841781
nsv615599 CNV loss 21841781
nsv615601 CNV gain+loss 21841781
nsv6746 CNV insertion 18451855
nsv819112 CNV gain 19587683
nsv825135 CNV gain 20364138
nsv825138 CNV loss 20364138
nsv825141 CNV gain 20364138
nsv831744 CNV gain+loss 17160897
nsv951795 CNV deletion 24416366

Variation tolerance for CEL Gene

Residual Variation Intolerance Score: 76.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.57; 56.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CEL Gene

Human Gene Mutation Database (HGMD)
CEL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEL
Leiden Open Variation Database (LOVD)
CEL

SNP Genotyping and Copy Number Assays for research

Disorders for CEL Gene

MalaCards: The human disease database

(17) MalaCards diseases for CEL Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search CEL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CEL_HUMAN
  • Maturity-onset diabetes of the young 8 with exocrine dysfunction (MODY8) [MIM:609812]: An autosomal dominant form of diabetes characterized by a primary defect in insulin secretion, exocrine pancreatic dysfunction, altered pancreatic morphology, recurrent abdominal pain, and fecal elastase deficiency. Disease onset is at less than 25 years of age. {ECO:0000269 PubMed:16369531}. Note=The disease is caused by variants affecting the gene represented in this entry. Single base deletions in the VNTR-region, that result in frame shift and protein truncation, have been identified as disease causing variants in MODY8 families (PubMed:16369531). {ECO:0000269 PubMed:16369531}.

Additional Disease Information for CEL

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CEL: view

No data available for Genatlas for CEL Gene

Publications for CEL Gene

  1. Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. (PMID: 19760265) Torsvik J … Njølstad PR (Human genetics 2010) 3 4 22
  2. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. (PMID: 16369531) Raeder H … Njølstad PR (Nature genetics 2006) 3 4 72
  3. Carboxylester lipase gene polymorphism as a risk of alcohol-induced pancreatitis. (PMID: 15841033) Miyasaka K … Funakoshi A (Pancreas 2005) 3 22 40
  4. Association between a polymorphism in the carboxyl ester lipase gene and serum cholesterol profile. (PMID: 15114370) Bengtsson-Ellmark SH … Bjursell G (European journal of human genetics : EJHG 2004) 3 22 40
  5. Characterization of a VNTR polymorphism in the coding region of the CEL gene. (PMID: 12166660) Higuchi S … Saito S (Journal of human genetics 2002) 3 4 22

Products for CEL Gene

Sources for CEL Gene