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Aliases for CEL Gene

Aliases for CEL Gene

  • Carboxyl Ester Lipase 2 3 4
  • Bile Salt-Stimulated Lipase 2 4
  • Cholesterol Esterase 3 4
  • Sterol Esterase 3 4
  • Bucelipase 3 4
  • BSSL 3 4
  • BAL 3 4
  • Carboxyl Ester Lipase (Bile Salt-Stimulated Lipase) 3
  • Bile Salt-Dependent Lipase, Oncofetal Isoform 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 63
  • CEase 3
  • MODY8 3
  • BSDL 3
  • CELL 3
  • FAPP 3
  • LIPA 3
  • FAP 3

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 viii and maturity-onset diabetes of the young. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Metabolism. GO annotations related to this gene include hydrolase activity and carboxylic ester hydrolase activity. An important paralog of this gene is CES2.

UniProtKB/Swiss-Prot for CEL Gene

  • Catalyzes fat and vitamin absorption. Acts in concert with pancreatic lipase and colipase for the complete digestion of dietary triglycerides

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 PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEL Gene

Genomics for CEL Gene

Genomic Location for CEL Gene

Chromosome:
9
Start:
133,061,978 bp from pter
End:
133,087,355 bp from pter
Size:
25,378 bases
Orientation:
Plus strand

Genomic View for CEL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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=CAI13412.1; 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

Proteomics data for CEL Gene at MOPED

Selected DME Specific Peptides for CEL Gene

Post-translational modifications for CEL Gene

  • Glycosylation at Asn 207, Thr 558, Thr 569, Thr 579, Thr 607, Thr 618, Thr 629, Thr 640, Thr 651, Thr 662, and Thr 673
  • Modification sites at PhosphoSitePlus

Other Protein References for CEL Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CEL Gene

Gene Families for CEL Gene

HGNC:

Protein Domains for CEL Gene

Suggested Antigen Peptide Sequences for CEL Gene

GenScript: Design optimal peptide antigens:

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

GENATLAS Biochemistry:
carboxyl ester lipase,expressed in pancreas and in mammary gland during lactation, ?same as liver cholesterol esterase
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 CatalyticActivity:
Triacylglycerol + H(2)O = diacylglycerol + a carboxylate.
UniProtKB/Swiss-Prot CatalyticActivity:
A steryl ester + H(2)O = a sterol + a fatty acid.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by bile salts containing a 7-hydroxyl group
UniProtKB/Swiss-Prot Function:
Catalyzes fat and vitamin absorption. Acts in concert with pancreatic lipase and colipase for the complete digestion of dietary triglycerides

Enzyme Numbers (IUBMB) for CEL Gene

Gene Ontology (GO) - Molecular Function for CEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function --
GO:0003824 catalytic activity TAS 2265692
GO:0004622 lysophospholipase activity --
GO:0004771 sterol esterase activity TAS --
GO:0004806 triglyceride lipase activity NAS 2265692
genes like me logo Genes that share ontologies with CEL: view
genes like me logo Genes that share phenotypes with CEL: view

Animal Models for CEL Gene

MGI Knock Outs for CEL:

Animal Model Products

miRNA for CEL Gene

miRTarBase miRNAs that target CEL

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CEL

In Situ Assay Products

Flow Cytometry Products

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
Jensen Localization Image for CEL Gene COMPARTMENTS Subcellular localization image for CEL gene
Compartment Confidence
extracellular 5
cytosol 1
golgi apparatus 1
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component --
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 16502470
GO:0005737 cytoplasm ISS --
GO:0005791 rough endoplasmic reticulum --
genes like me logo Genes that share ontologies with CEL: view

Pathways & Interactions for CEL Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for CEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process NAS 8639615
GO:0006641 triglyceride metabolic process IC 2265692
GO:0006707 cholesterol catabolic process NAS 7578248
GO:0008150 biological_process --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Orlistat Approved, Investigational Pharma Pancreatic, gastric and carboxylester lipase inhibitor; antiobesity and antihypercholesterolemic activity 49
imatinib Approved Pharma Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 567
chloroquine Approved Pharma Agonist 137
cholic acid Approved Pharma Full agonist, Agonist 0
Ethanol Approved Pharma 1708

(98) Additional Compounds for CEL Gene - From: NovoSeek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
aminoacetone
  • 1-Amino-(8CI,9CI)-2-propanone
  • 1-Amino-2-propanone
  • 1-Aminopropan-2-one
  • alpha-Aminoacetone
  • Amino-(6CI)-2-propanone
298-08-8
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
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
  • 14:0 Cholesterol ester
  • CE(14:0)
  • CE(14:0/0:0)
  • Cholest-5-en-3-ol (3beta)-tetradecanoate
1989-52-2
genes like me logo Genes that share compounds with CEL: view

Transcripts for CEL Gene

mRNA/cDNA for CEL Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(32) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CEL Gene

Carboxyl ester lipase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CEL

Flow Cytometry Products

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

No ASD Table

Relevant External Links for CEL Gene

GeneLoc Exon Structure for
CEL
ECgene alternative splicing isoforms for
CEL

Expression for CEL Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for CEL Gene



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. Expressed by eosinophils.
genes like me logo Genes that share expression patterns with CEL: view

Protein tissue co-expression partners for CEL Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for CEL Gene

This gene was present in the common ancestor of animals.

Orthologs for CEL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CEL 35
  • 82.55 (n)
  • 76.77 (a)
CEL 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEL 35
  • 83.62 (n)
  • 83.09 (a)
CEL 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cel 35
  • 79.83 (n)
  • 78.82 (a)
Cel 16
Cel 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CEL 35
  • 94.92 (n)
  • 93.5 (a)
CEL 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cel 35
  • 78.64 (n)
  • 78.64 (a)
oppossum
(Monodelphis domestica)
Mammalia CEL 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEL 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEL 35
  • 67.57 (n)
  • 65.94 (a)
CEL 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEL 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492444 35
  • 65.76 (n)
  • 66.12 (a)
African clawed frog
(Xenopus laevis)
Amphibia cel-prov 35
zebrafish
(Danio rerio)
Actinopterygii cel.2 35
  • 61.93 (n)
  • 58.83 (a)
wufb62e11 35
cel.1 36
  • 57 (a)
OneToMany
cel.2 36
  • 58 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1369 35
fruit fly
(Drosophila melanogaster)
Insecta alpha-Est1 37
  • 28 (a)
alpha-Est10 37
  • 31 (a)
alpha-Est2 37
  • 29 (a)
alpha-Est4 37
  • 28 (a)
alpha-Est5 37
  • 29 (a)
alpha-Est6 37
  • 28 (a)
alpha-Est7 37
  • 29 (a)
alpha-Est8 37
  • 29 (a)
alpha-Est9 37
  • 28 (a)
CG10175 37
  • 29 (a)
CG10339 37
  • 27 (a)
CG6018 37
  • 30 (a)
CG7529 37
  • 28 (a)
CG8424 37
  • 28 (a)
CG9289 37
  • 28 (a)
clt 37
  • 29 (a)
Est-6 37
  • 31 (a)
Est-P 37
  • 32 (a)
Glt 37
  • 25 (a)
Jhe 37
  • 30 (a)
Nlg1 36
  • 13 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001722 35
  • 49.59 (n)
  • 37.7 (a)
worm
(Caenorhabditis elegans)
Secernentea B0238.1 37
  • 28 (a)
B0238.13 37
  • 34 (a)
B0238.7 37
  • 29 (a)
C52A10.2 37
  • 28 (a)
F15A8.6 37
  • 30 (a)
F55D10.3 37
  • 27 (a)
ges-1 37
  • 28 (a)
K11G9.1 37
  • 25 (a)
K11G9.3 37
  • 27 (a)
R173.3 37
  • 40 (a)
T02B5.1 37
  • 26 (a)
T02B5.3 37
  • 25 (a)
T28C12.4a 37
  • 27 (a)
T28C12.4b 37
  • 27 (a)
Y71H2AM.13 37
  • 29 (a)
nlg-1 36
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToMany
-- 36
  • 29 (a)
OneToMany
-- 36
  • 35 (a)
OneToMany
-- 36
  • 27 (a)
OneToMany
-- 36
  • 34 (a)
OneToMany
Species with no ortholog for CEL:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CEL Gene

Paralogs for CEL Gene

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

Pseudogenes.org Pseudogenes for CEL Gene

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

Variants for CEL Gene

Sequence variations from dbSNP and Humsavar for CEL Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs488087 Likely benign, Likely benign 133,071,212(+) ACTCC(C/T)GTGCC reference, synonymous-codon
rs490954 -- 133,071,534(+) CCGGG(C/G)CCCCC reference, missense
rs592267 -- 133,065,586(+) tcacc(C/T)ctgta intron-variant
rs598333 -- 133,071,467(+) TCCGG(C/G)GCCCC synonymous-codon, reference
rs600825 -- 133,067,969(+) GCCTT(A/G)CCAGC intron-variant

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

Variant ID Type Subtype PubMed ID
esv2739138 CNV Deletion 23290073
nsv831744 CNV Gain+Loss 17160897
nsv508564 CNV Loss 20534489
nsv466606 CNV Loss 19166990
nsv894028 CNV Loss 21882294
nsv6746 CNV Insertion 18451855
nsv819112 CNV Gain 19587683
nsv894029 CNV Gain 21882294
nsv894030 CNV Loss 21882294
nsv894031 CNV Gain 21882294
nsv825135 CNV Gain 20364138
dgv1242n67 CNV Gain 20364138
nsv825138 CNV Loss 20364138
nsv825141 CNV Gain 20364138
esv33978 CNV Gain+Loss 17666407
nsv442165 CNV CNV 18776908
esv26702 CNV Gain 19812545
esv2739148 CNV Deletion 23290073

Variation tolerance for CEL Gene

Residual Variation Intolerance Score: 76.53% 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)

Relevant External Links for CEL Gene

HapMap Linkage Disequilibrium report
CEL
Human Gene Mutation Database (HGMD)
CEL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEL Gene

Disorders for CEL Gene

MalaCards: The human disease database

(6) MalaCards diseases for CEL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
maturity-onset diabetes of the young, type viii
  • maturity-onset diabetes of the young, type 8
maturity-onset diabetes of the young
  • mason-type diabetes
lipomatosis
  • benign symmetrical lipomatosis
pancreatic acinar cell adenocarcinoma
  • pancreatic acinar cell carcinoma
monogenic diabetes
- elite association
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]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269 PubMed:16369531}. Note=The disease is caused by mutations affecting the gene represented in this entry. The disease can be caused by frameshift deletions in the variable number of tandem repeats (VNTR)-containing exon 11 of the CEL gene (PubMed:16369531). {ECO:0000269 PubMed:16369531}.

Relevant External Links for CEL

Genetic Association Database (GAD)
CEL
Human Genome Epidemiology (HuGE) Navigator
CEL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEL
genes like me logo Genes that share disorders with CEL: view

No data available for Genatlas for CEL Gene

Publications for CEL Gene

  1. Carboxyl ester lipase: a highly polymorphic locus on human chromosome 9qter. (PMID: 1676983) Taylor A.K. … Lusis A.J. (Genomics 1991) 2 23 67
  2. Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. (PMID: 19760265) Torsvik J. … lstad P.R. (Hum. Genet. 2010) 23 67
  3. Complement protein C1q recognizes enzymatically modified low-density lipoprotein through unesterified fatty acids generated by cholesterol esterase. (PMID: 20166680) Biro A. … Arlaud G.J. (Biochemistry 2010) 23 67
  4. Tissue distribution of lipase genes related to triglyceride metabolism in laying hens (Gallus gallus). (PMID: 19818411) Sato K. … Kamada T. (Comp. Biochem. Physiol. B, Biochem. Mol. Biol. 2010) 23 67
  5. In vitro enzymatic biodegradation of adhesive resin in the hybrid layer. (PMID: 20127999) Zou Y. … Armstrong S.R. (J Biomed Mater Res A 2010) 23 67

Products for CEL Gene

Sources for CEL Gene

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