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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CEL Gene

protein-coding   GIFtS: 65
GCID: GC09P135937

carboxyl ester lipase (bile salt-stimulated lipase)
 Explore 30 diseases affiliated with
CEL via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CEL    

Aliases
for CEL gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Carboxyl Ester Lipase (Bile Salt-Stimulated Lipase)1 2     Bile Salt-Activated Lipase2
BSSL1 2 3 5     Bile Salt-Dependent Lipase, Oncofetal Isoform2
MODY81 2 5     Bile-Salt-Activated Lipase2
Cholesterol Esterase2 3     Bucelipase3
Pancreatic Lysophospholipase2 3     Carboxyl Ester Hydrolase2
Sterol Esterase2 3     Fetoacinar Pancreatic Protein2
BAL2 3     Lysophospholipase, Pancreatic2
CELL2 5     Bucelipase3
BSDL2     EC 3.1.1.133
CEase2     EC 3.1.1.33
FAP2     Bile Salt-Stimulated Lipase3
FAPP2     Carboxyl Ester Lipase3
LIPA2     EC 3.1.18

External Ids:    HGNC: 18481   Entrez Gene: 10562   Ensembl: ENSG000001708357   OMIM: 1148405   UniProtKB: P198353   

Export aliases for CEL gene to outside databases

Previous GC identifers: GC09P056378 GC09P127494 GC09P129291 GC09P131213 GC09P132966 GC09P134927


Summaries
for CEL gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CEL:
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)

UniProtKB/Swiss-Prot: CEL_HUMAN, P19835
Function: Catalyzes fat and vitamin absorption. Acts in concert with pancreatic lipase and colipase for the complete
digestion of dietary triglycerides

Gene Wiki entry for CEL (Bile salt-dependent lipase)


Genomic Views
for CEL gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_035014.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CEL gene promoter:
         c-Fos   AP-1   AP-2alpha isoform 3   AP-2alpha isoform 2   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CEL promoter sequence
   Search SABiosciences Chromatin IP Primers for CEL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CEL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.2   HGNC cytogenetic band: 9q34.3

CEL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CEL gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P135937:  view genomic region     (about GC identifiers)

Start:
 135,937,365 bp from pter      End:
 135,947,248 bp from pter
Size:
 9,884 bases      Orientation:
 plus strand

Proteins
for CEL gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CEL_HUMAN, P19835 (See protein sequence)
Recommended Name: Bile salt-activated lipase precursor  
Size: 753 amino acids; 79322 Da
Subcellular location: Secreted
Sequence caution: Sequence=AAA51973.1; Type=Erroneous initiation; Sequence=AAA52014.1; Type=Erroneous initiation;
Sequence=AAC26514.1; Type=Erroneous initiation; Sequence=CAA38325.1; Type=Erroneous initiation; Sequence=CAI13412.1;
Type=Erroneous initiation; Sequence=EAW88033.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for CEL:
1F6W (3D)        1JMY (3D)    
Secondary accessions: Q16398 Q5T7U7 Q9UCH1 Q9UP41
Alternative splicing: 2 isoforms:  P19835-1   P19835-2   

Explore the universe of human proteins at neXtProt for CEL: NX_P19835

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P19835

    • 2 DME Specific Peptides for CEL (P19835)
     NIAAFGG  FKGIPFA 

    CEL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001798.2  
    ENSEMBL proteins: 
     ENSP00000361151   ENSP00000342217  
    Reactome Protein details: P19835
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    Uscn Proteins for CEL

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IBA--
    GO:0005737cytoplasm ISS--
    GO:0005829cytosol IBA--


    CEL for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for CEL gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CEL for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR019826 Carboxylesterase_B_AS
     IPR019819 Carboxylesterase_B_CS
     IPR002018 CarbesteraseB

    Graphical View of Domain Structure for InterPro Entry P19835

    ProtoNet protein and cluster: P19835

    UniProtKB/Swiss-Prot: CEL_HUMAN, P19835
    Similarity: Belongs to the type-B carboxylesterase/lipase family


    Function
    for CEL gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: CEL_HUMAN, P19835
    Function: Catalyzes fat and vitamin absorption. Acts in concert with pancreatic lipase and colipase for the complete
    digestion of dietary triglycerides
    Catalytic activity: Triacylglycerol + H(2)O = diacylglycerol + a carboxylate
    Catalytic activity: A steryl ester + H(2)O = a sterol + a fatty acid
    Enzyme regulation: Activated by bile salts containing a 7-hydroxyl group
    Biophysicochemical properties: Kinetic parameters: KM=24 uM for lipoyl-4-aminobenzoate; KM=15 uM for triacetin;
    Vmax=45.5 pmol/min/mg enzyme toward lipoyl-4-aminobenzoate; Vmax=323 pmol/min/mg enzyme toward triacetin;

         Genatlas biochemistry entry for CEL:
    carboxyl ester lipase,expressed in pancreas and in mammary gland during lactation, ?same as liver cholesterol esterase

    Enzyme Numbers (IUBMB): EC 3.1.1.31 EC 3.1.12 EC 3.1.1.131

    miRNA
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    Inhib. RNA
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity TAS2265692
    GO:0004091carboxylesterase activity IBA--
    GO:0004771sterol esterase activity TAS--
    GO:0004806triglyceride lipase activity NAS2265692
    GO:0008201heparin binding NAS7578248


    CEL for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for CEL:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Increased G1 DNA content 

    Animal Models:
         Mouse knock-outs for CEL: Celtm1Dyh Celtm1Eaf
         5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cel):
     adipose tissue  digestive/alimentary  growth/size  homeostasis/metabolism  liver/biliary system 

    CEL for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CEL gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    2Digestion of dietary lipid
    		Digestion of dietary lipid1.00
    3Glycerolipid metabolism
    		Glycerolipid metabolism1.00
    4Pancreatic secretion
    		Pancreatic secretion1.00
    5cholesterol biosynthesis III (via desmosterol)
    		Steroid biosynthesis0.60

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for CEL
        Lipid digestion, mobilization, and transport
    Metabolism
    Digestion of dietary lipid
    Metabolism of lipids and lipoproteins


    5         Kegg Pathways  (Kegg details for CEL):
        Steroid biosynthesis
    Glycerolipid metabolism
    Metabolic pathways
    Pancreatic secretion
    Fat digestion and absorption


    CEL for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CEL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/47 Interacting proteins for CEL (P198353 ENSP000003611514) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LTFP027883, ENSP000002317514I2D: score=1 STRING: ENSP00000231751
    CLPSENSP000002599384STRING: ENSP00000259938
    DGAT1ENSP000003322584STRING: ENSP00000332258
    DGAT2ENSP000002280274STRING: ENSP00000228027
    DGKGENSP000002650224STRING: ENSP00000265022
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process TAS--
    GO:0006641triglyceride metabolic process IC2265692
    GO:0006707cholesterol catabolic process NAS7578248
    GO:0009062fatty acid catabolic process NAS7578248
    GO:0018350protein esterification NAS7578248


    CEL for ontologies           About GeneDecksing



    Drugs & Compounds
    for CEL gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CEL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CEL available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Orlistat Pancreatic, gastric and carboxylester lipase inhibitor; antiobesity and antihypercholesterolemic activity [96829-58-2]

    10/1179 HMDB Compounds for CEL (see all 1179)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Aminoacetone1-Amino-2-propanone (see all 6)298-08-8--
    Arachidic acidArachate (see all 10)506-30-9--
    Arachidonic acid5,8,11,14-Eicosatetraenoic acid (see all 16)506-32-1--
    CE(10:0)Decanoic acid cholesteryl ester (see all 18)1183-04-6--
    CE(12:0)cholest-5-en-3beta-yl dodecanoate (see all 19)1908-11-8--
    CE(14:0)14:0 Cholesterol ester (see all 24)1989-52-2--
    CE(14:1(9Z))CE(14:1/0:0) (see all 22)----
    CE(16:0)Cholest-5-ene-3-beta-yl palmitate (see all 23)601-34-3--
    CE(16:1(9Z))(Z)-Cholesterol 9-hexadecenoate (see all 33)16711-66-3--
    CE(18:0)cholesterol 1-octadecanoate (see all 14)----

    1 DrugBank Compound for CEL    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Taurocholic Acid-- 81-24-3target--17139284 17016423 10592235

    10/74 Novoseek chemical compound relationships for CEL gene (see all 74)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholesteryl oleate 86.9 7 18634028 (2), 1854805 (1), 2086702 (1), 12110666 (1)
    pcnu 82.8 2 11575477 (1), 12182550 (1)
    cholesterol 77.8 410 8639615 (9), 2086702 (9), 9007978 (7), 11722679 (5) (see all 99)
    triethylene glycol dimethacrylate 69.9 7 11922474 (1), 14691108 (1), 14533861 (1), 15057996 (1)
    cholesterol ester 67.6 6 2354156 (2), 8566296 (1), 8291675 (1), 8218286 (1)
    bis-gma 67.6 2 14691108 (1), 14533861 (1)
    monoacylglycerol 64 9 1930149 (2), 8280776 (2), 17848545 (1), 12454261 (1) (see all 5)
    taurocholate 61 10 2354156 (2), 12110666 (1), 8639615 (1), 12162329 (1) (see all 5)
    polycaprolactone 58.9 3 16186753 (2), 18578181 (1)
    gamma oryzanol 58 1 15638245 (1)

    Search CenterWatch for drugs/clinical trials and news about CEL 

    Transcripts
    for CEL gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CEL gene: 
    NM_001807.4  

    Unigene Cluster for CEL:

    Carboxyl ester lipase (bile salt-stimulated lipase)
    Hs.533258  [show with all ESTs]
    Unigene Representative Sequence: X54457
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372080(uc010naa.1) ENST00000351304

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    Additional cDNA sequence: 

    AF081673.1 AK299965.1 BC042510.1 M85201.1 S79774.1 X54457.1 

    16 DOTS entries:

    DT.86840803  DT.100025619  DT.100777634  DT.95297424  DT.100777632  DT.100777625  DT.100667890  DT.121202147 
    DT.121143235  DT.121143238  DT.75163462  DT.97822774  DT.121143229  DT.40119873  DT.40222129  DT.95118536 

    24/32 AceView cDNA sequences (see all 32):

    AK098728 BM055183 CD612866 CK904837 CD612864 AF081673 CD612870 CD612868 
    L14813 AW371544 CD612859 NM_001807 BF883469 BM352607 M85201 S79774 
    CD612861 S70516 BC042510 NR_001275 X54457 CD612857 S70517 C06104 

    GeneLoc Exon Structure


    Expression
    for CEL gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CEL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCCTTGGTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CEL expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    PancreasIslets of LangerhansMature Beta CellsPancreas
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CEL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CEL

    SOURCE GeneReport for Unigene cluster: Hs.533258

    UniProtKB/Swiss-Prot: CEL_HUMAN, P19835
    Tissue specificity: Mammary gland and pancreas

        SABiosciences Expression via Pathway-Focused PCR Arrays including CEL: 
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              Drug Metabolism: Phase I Enzymes in human mouse rat

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    In Situ
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    Orthologs
    for CEL gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for CEL gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CEL1 carboxyl ester lipase (bile salt-stimulated lipase) 67.57(n)
    65.94(a)    		   417165  NM_001012997.1  NP_001013015.1 
    lizard
    (Anolis carolinensis)    		 Reptilia CEL6
    		 --
    		 67(a)
    		 1 ↔ 1
    		 6(77912414-77922480)
    African clawed frog
    (Xenopus laevis)    		 Amphibia cel-prov2 carboxyl ester lipase 72.47(n)    BC054271.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii wufb62e112 wufb62e11 76.42(n)   322481  BC055668.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Est-P3 carboxylesterase 32(a)
    (best of 20)    		   3 69A1   --
    worm
    (Caenorhabditis elegans)    		 Secernentea R173.33 esterase 40(a)
    (best of 15)    		   X(7065997-7071293)   --


    ENSEMBL Gene Tree for CEL (if available)
    TreeFam Gene Tree for CEL (if available) 

    Paralogs
    for CEL gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CEL gene
    NLGN12  CES22  ACHE2  CES4A2  NLGN4X2  NLGN4Y2  CES32  NLGN32  
    NLGN22  CES12  CES5A2  BCHE2  
    13 SIMAP similar genes for CEL using alignment to 1 protein entry:     CEL_HUMAN:
    CELP    DKFZp686F02202    CES8    BCHE    ACHE    CES1P1
    CES3    CES4A    CES hBr2    CES1    CES5A    CES2
    NLGN3

    CEL for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CEL
    PGOHUM00000236782


    Genomic Variants
    for CEL gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/244 NCBI SNPs in CEL are shown (see all 244)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs760210711,2
    		F,--105429088(+) CAGTCG/CGTGTG 1 -- int11Minor allele frequency- C:0.02WA 118
    rs6424401,2
    		C,--105429097(+) TGAATA/GTGGTG 1 -- int15Minor allele frequency- G:0.05NA EA 246
    rs794488131,2
    		--105429556(+) TCCGGG/ATGATA 1 -- int12Minor allele frequency- A:0.05CSA WA 120
    rs93285421,2
    		C,--105430426(+) ATGCCC/GCAGGG 1 -- us2k10--------
    rs1137153761,2
    		C,--105430436(+) GCCTCA/G/TGCTGG 1 -- us2k11WA 2
    rs28550501,2
    		C,H--105430540(+) GGACAC/GATCAG 1 -- us2k14Minor allele frequency- G:0.00NS EA 410
    rs787920361,2
    		F,--105430556(+) ATGGTG/TACACT 1 -- us2k11Minor allele frequency- T:0.04EA 120
    rs20010001,2
    		--105430560(+) TGACAC/GTTCCA 1 -- us2k12Minor allele frequency- G:0.00NA 4
    rs28550531,2
    		--105430723(+) GTGCTC/TGGTCC 1 -- us2k1 tfbs30--------
    rs28550541,2
    		--105430732(+) CCCCTC/GTGAAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CEL (135937365 - 135947248 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for CEL
         7 CNVs: 65540 37814 7730 36924 83208 59514 96329
    Human Gene Mutation Database (HGMD): CEL

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CEL
    DNA2.0 Custom Variant and Variant Library Synthesis for CEL

    Disorders / Diseases
    for CEL gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CEL for disorders           About GeneDecksing

    OMIM gene information: 114840   
    OMIM disorders: 609812  
    UniProtKB/Swiss-Prot: CEL_HUMAN, P19835
  • Defects in CEL are a cause of maturity-onset diabetes of the young type 8 with exocrine dysfunction (MODY8)
    • [MIM:609812]; also known as diabetes and pancreatic exocrine dysfunction (DPED). MODY is 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

    20/30 diseases for CEL (see all 30):    About MalaCards
    pancreatitis    maturity-onset diabetes of the young    maturity-onset diabetes of the young, type 8    cholesterol
    maturity-onset diabetes of the young, type 3    exocrine pancreatic insufficiency    atherosclerosis    diabetes and pancreatic exocrine dysfunction
    lipomatosis    coronary heart disease    eaf    maculopathy
    hyperlipidemia    acute pancreatitis    cystic fibrosis    bronchitis
    jaundice    insulinoma    colon adenocarcinoma    duodenitis

    1 disease from the University of Copenhagen DISEASES database for CEL:
    Atherosclerosis

    10/18 Novoseek disease relationships for CEL gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pancreas exocrine 67.1 9 11023822 (1), 12853459 (1), 8424803 (1), 7965454 (1) (see all 7)
    atherosclerosis 33.8 13 12557152 (2), 16166077 (2), 12454261 (2), 16019021 (1) (see all 9)
    exocrine pancreatic insufficiency 32.3 1 2253333 (1)
    pancreatic tumor 26.2 2 19190122 (1)
    pancreatitis 18.2 7 15841033 (3), 2403740 (1), 8424803 (1)
    hyperlipidemia 16.5 2 15841033 (2)
    chronic pancreatitis 15.8 2 2403740 (1), 8404899 (1)
    atherosclerotic plaque 9.32 1 9397399 (1)
    pancreatic cancer 3.85 1 16865281 (1)
    metastasis 3.64 1 2403740 (1)

    Genetic Association Database (GAD): CEL
    Human Genome Epidemiology (HuGE) Navigator: CEL (10 documents)

    Export disorders for CEL gene to outside databases

    Publications
    for CEL gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CEL gene, integrated from 9 sources (see all 272):
    (articles sorted by number of sources associating them with CEL)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of human milk bile salt activated lipase. (PubMed id 1988041)1, 2, 9 Baba T.... Wang C.-S. (1991)
    2. Genomic organization, sequence analysis, and chromosomal localization of the human carboxyl ester lipase (CEL) gene and a CEL-like (CELL) gene. (PubMed id 1639390)1, 2, 9 Lidberg U.... Bjursell G. (1992)
    3. Carboxyl ester lipase: a highly polymorphic locus on human chromosome 9qter. (PubMed id 1676983)1, 3, 9 Taylor A.K....Lusis A.J. (1991)
    4. Association between a polymorphism in the carboxyl ester lipase gene and serum cholesterol profile. (PubMed id 15114370)1, 4, 9 Bengtsson-Ellmark S.H....Bjursell G. (2004)
    5. Carboxylester lipase gene polymorphism as a risk of alcohol-induced pancreatitis. (PubMed id 15841033)1, 4, 9 Miyasaka K....Funakoshi A. (2005)
    6. Crystal structure of the catalytic domain of human bile salt activated lipase. (PubMed id 11045623)1, 2, 9 Terzyan S.... Zhang X.C. (2000)
    7. Structural characterization of the N-linked oligosaccharides in bile salt-stimulated lipase originated from human breast milk. (PubMed id 10024660)1, 2, 9 Mechref Y.... Novotny M.V. (1999)
    8. Sequence identity between human pancreatic cholesterol esterase and bile salt-stimulated milk lipase. (PubMed id 2265692)1, 2, 9 Hui D.Y. and Kissel J.A. (1990)
    9. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. (PubMed id 16369531)1, 2 Raeder H.... Njoelstad P.R. (2006)
    10. Structure and organization of the human carboxyl ester lipase locus. (PubMed id 9530636)1, 2 Madeyski K.... Nilsson J. (1998)

    External Searches for CEL gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CEL gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1056 HGNC: 1848 AceView: CELandCELP Ensembl:ENSG00000170835 euGenes: HUgn1056
    ECgene: CEL Kegg: 1056 H-InvDB: CEL

    Other Databases showing CEL gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CEL gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CEL Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CEL Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for CEL gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CEL gene:
    Search GeneIP for patents involving CEL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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