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CEL Gene

protein-coding   GIFtS: 66
GCID: GC09P135937

Carboxyl Ester Lipase

  See CEL-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Carboxyl Ester Lipase1 2 3     Bile Salt-Activated Lipase2
BSSL2 3 5     Bile Salt-Dependent Lipase, Oncofetal Isoform2
Bile Salt-Stimulated Lipase1 3     bucelipase2
Cholesterol Esterase2 3     Carboxyl Ester Hydrolase2
Sterol Esterase2 3     Carboxyl Ester Lipase (Bile Salt-Stimulated Lipase)2
BAL2 3     Fetoacinar Pancreatic Protein2
CELL2 5     Lysophospholipase, Pancreatic2
MODY82 5     Bucelipase3
BSDL2     EC 3.1.1.133
CEase2     EC 3.1.1.33
FAP2     Pancreatic Lysophospholipase3
FAPP2     EC 3.1.18
LIPA2     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, and exocrine pancreatic insufficiency. GO annotations related to this gene include and heparin binding. An important paralog of this gene is NLGN1.

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) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   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 plasmidCEL promoter sequence
   Search Chromatin IP Primers for CEL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CEL_HUMAN, P19835 (See protein sequence)
Recommended Name: Bile salt-activated lipase precursor  
Size: 753 amino acids; 79322 Da
Subunit: Interacts with CLC
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

Explore proteomics data for CEL at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn207, Thr558, Thr569, Thr579, Thr607, Thr618, Thr629, Thr640, Thr651, Thr662,
                                 Thr673
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for CEL (P19835)
     NIAAFGG  FKGIPFA 


    See CEL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001798.2  
    ENSEMBL proteins: 
     ENSP00000361151   ENSP00000342217  
    Reactome Protein details: P19835

    CEL Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online peptides for CEL

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     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


    Find genes that share domains with CEL           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity TAS2265692
    GO:0004771sterol esterase activity TAS--
    GO:0004806triglyceride lipase activity NAS2265692
    GO:0005515protein binding IPI11834744
    GO:0008201heparin binding NAS7578248
         
    Find genes that share ontologies with CEL           About GenesLikeMe


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

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cel):
     adipose tissue  digestive/alimentary  growth/size/body  homeostasis/metabolism  liver/biliary system 

    Find genes that share phenotypes with CEL           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CEL: Celtm1Dyh Celtm1Eaf

       genOway: Develop your customized and physiologically relevant rodent model for CEL

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    eBioscience FlowRNA Probe Sets ( VA1-12286) for CEL 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CEL_HUMAN, P19835: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol3
    endoplasmic reticulum2
    plasma membrane2
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1
    vacuole1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with CEL           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CEL About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2Fat digestion and absorption
    Digestion of dietary lipid0.00
    Fat digestion and absorption
    3Lipoprotein metabolism
    Lipid digestion, mobilization, and transport0.59
    4superpathway of cholesterol biosynthesis
    Steroid biosynthesis0.57
    5Pancreatic secretion
    Pancreatic secretion


    Find genes that share SuperPaths with CEL           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CEL
        UVA-Induced MAPK Signaling
    Cellular Apoptosis Pathway
    Granzyme Pathway
    all-trans-Retinoic Acid Mediated Apoptosis


    1 Reactome Pathway for CEL
        Digestion of dietary lipid


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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CEL: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CEL

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

    Selected 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): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process NAS8639615
    GO:0006641triglyceride metabolic process IC2265692
    GO:0006707cholesterol catabolic process NAS7578248
    GO:0008152metabolic process ----
    GO:0009062fatty acid catabolic process NAS7578248

    Find genes that share ontologies with CEL           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for CEL available from Tocris Bioscience    About this table
    CompoundAction CAS #
    JZL 184Monoacylglycerol lipase (MAGL) inhibitor[1101854-58-3]
    Orlistat Pancreatic, gastric and carboxylester lipase inhibitor; antiobesity and antihypercholesterolemic activity [96829-58-2]
    Pristimerin Potent, reversible MAGL inhibitor [1258-84-0]
    GSK 264220AEndothelial lipase and lipoprotein lipase inhibitor[685506-42-7]

    Selected 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

    Selected Novoseek inferred 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)



    Find genes that share compounds with CEL           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CEL gene: 
    NM_001807.4  

    Unigene Cluster for CEL:

    Carboxyl ester 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
    miRNA
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 32):

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

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CEL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCCTTGGTA
    CEL Expression
    About this image


    CEL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Duct Cells Pancreatic Ducts
             Islets of Langerhans
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
     
     Ovary (Reproductive System)
    CEL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CEL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.533258

    UniProtKB/Swiss-Prot: CEL_HUMAN, P19835
    Tissue specificity: Mammary gland and pancreas. Expressed by eosinophils

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CEL: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEL

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CEL gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cel1 , 5 carboxyl ester lipase1, 5 79.83(n)1
    78.82(a)1
      2 (19.38 cM)5
    126131  NM_009885.11  NP_034015.11 
     285557955 
    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
    carboxyl ester lipase
    67(a)
    1 ↔ 1
    6(77912315-77923378)
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CEL gene
    NLGN12  CES22  ACHE2  CES4A2  NLGN4X2  NLGN4Y2  CES32  NLGN32  
    NLGN22  CES12  CES5A2  BCHE2  
    11 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

    Find genes that share paralogs with CEL           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CEL
    PGOHUM00000236782


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CEL (see all 319)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs560287261,2
    --135938722(+) GGAGAC/GACAGA 1 -- int10--------
    rs1488010621,2
    --135938766(+) TGTTGC/TTTCTG 1 -- int10--------
    rs28550551,2
    --135938775(+) TGGTTC/GCTTTG 1 -- int1 trp30--------
    rs1854975901,2
    --135938812(+) CACACC/TAGTGT 1 -- int10--------
    rs776074861,2
    C,F--135938870(+) GCTGGG/TCCTGG 1 -- int12Minor allele frequency- T:0.06WA EA 238
    rs361264241,2
    --135938871(+) CTGGG-/CCTGGG 1 -- int10--------
    rs1486582461,2
    C--135938898(+) CCCTT-/CCCCCA 1 -- int10--------
    rs28550561,2
    --135938950(+) GGTCCC/TACCAT 1 -- int10--------
    rs607822031,2
    C--135939032(+) ACAGGG/ATGACT 1 -- int12Minor allele frequency- A:0.08CSA WA 120
    rs28550571,2
    --135939167(+) GCGTGG/TCGGGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for CEL (135937365 - 135947248 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CEL (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739148CNV Deletion23290073
    esv2739138CNV Deletion23290073
    nsv6746CNV Insertion18451855
    nsv508564CNV Loss20534489
    nsv466606CNV Loss19166990
    nsv825138CNV Loss20364138
    nsv894028CNV Loss21882294
    nsv894030CNV Loss21882294
    dgv1242n67CNV Gain20364138
    esv26702CNV Gain19812545

    Human Gene Mutation Database (HGMD): CEL
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CEL
    DNA2.0 Custom Variant and Variant Library Synthesis for CEL

    (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.)
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    OMIM gene information: 114840   
    OMIM disorders: 609812  
    UniProtKB/Swiss-Prot: CEL_HUMAN, P19835
  • 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. 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)

  • 7 diseases for CEL:    
    About MalaCards
    maturity-onset diabetes of the young, type 8    exocrine pancreatic insufficiency    maturity-onset diabetes of the young, type 1    retinitis pigmentosa 2
    lipomatosis    monogenic diabetes    atherosclerosis

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

    Find genes that share disorders with CEL           About GenesLikeMe

    Selected Novoseek inferred 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

    (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)
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    PubMed articles for CEL gene, integrated from 10 sources (see all 276):
    (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. (Biochemistry 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. (Genomics 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. (Genomics 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. (Eur. J. Hum. Genet. 2004)
    5. Carboxylester lipase gene polymorphism as a risk of alcohol-induced pancreatitis. (PubMed id 15841033)1, 4, 9 Miyasaka K....Funakoshi A. (Pancreas 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. (Protein Sci. 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. (Glycobiology 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. (FEBS Lett. 1990)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. Integrative predictive model of coronary artery calcification in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (Circulation 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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