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

CES1 Gene

protein-coding   GIFtS: 66
GCID: GC16M055836

carboxylesterase 1

(Previous name: carboxylesterase 1 (monocyte/macrophage serine esterase...)
 Explore 34 diseases affiliated with
CES1 via our new
 Human Malady Compendium 
Biological research products
for CES1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Carboxylesterase 11 2 3     REH2 3
SES11 2 3 5     TGH2 3
CES21 2 3     HCE-11
HMSE1 2 3     EC 3.1.1.13 8
CEH1 2     CES1A11
HMSE11 2     CES1A21
Carboxylesterase 1 (Monocyte/Macrophage Serine Esterase 1)1 2     PCE-12
Acyl-Coenzyme A:Cholesterol Acyltransferase2 3     Acyl Coenzyme A:Cholesterol Acyltransferase2
Brain Carboxylesterase HBr12 3     Carboxylesterase 2 (Liver)2
Cocaine Carboxylesterase2 3     Cholesteryl Ester Hydrolase2
Methylumbelliferyl-Acetate Deacetylase 12 3     Egasyn3
Monocyte/Macrophage Serine Esterase2 3     Human Monocyte/Macrophage Serine Esterase 12
Retinyl Ester Hydrolase2 3     Liver Carboxylesterase 12
Serine Esterase 12 3     EC 3.1.1.563
Triacylglycerol Hydrolase2 3     Egasyn3
ACAT2 3     EC 3.1.18
CE-12 3     

External Ids:    HGNC: 18631   Entrez Gene: 10662   Ensembl: ENSG000001988487   OMIM: 1148355   UniProtKB: P231413   

Export aliases for CES1 gene to outside databases

Previous GC identifers: GC16M046044 GC16P055849 GC16P055518 GC16M055613 GC16M055615 GC16M054395 GC06P023997


(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 CES1:
This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis
or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester,
thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in
the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations
of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have
been found for this gene. (provided by RefSeq, Jun 2010)

UniProtKB/Swiss-Prot: EST1_HUMAN, P23141
Function: Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Hydrolyzes
aromatic and aliphatic esters, but has no catalytic activity toward amides or a fatty acyl-CoA ester. Hydrolyzes the
methyl ester group of cocaine to form benzoylecgonine. Catalyzes the transesterification of cocaine to form
cocaethylene. Displays fatty acid ethyl ester synthase activity, catalyzing the ethyl esterification of oleic acid to
ethyloleate

Gene Wiki entry for CES1 (Carboxylesterase 1)


(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_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CES1 gene promoter:
         TBP   AP-1   ATF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCES1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CES1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CES1


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

Entrez Gene cytogenetic band: 16q22.2   Ensembl cytogenetic band:  16q12.2   HGNC cytogenetic band: 16q22.2

CES1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CES1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M055836:  view genomic region     (about GC identifiers)

Start:
55,836,763 bp from pter      End:
55,867,249 bp from pter
Size:
30,487 bases      Orientation:
minus strand

1 alternative location:
Chr16-,PATCHES 55,849,148-55,879,492     

(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: EST1_HUMAN, P23141 (See protein sequence)
Recommended Name: Liver carboxylesterase 1 precursor  
Size: 567 amino acids; 62521 Da
Subunit: Homotrimer and homohexamer. Binds to beta-glucuronidase
Subcellular location: Endoplasmic reticulum lumen
Sequence caution: Sequence=AAA83932.1; Type=Frameshift; Positions=301, 312, 318, 383, 391;
6/15 PDB 3D structures from and Proteopedia for CES1 (see all 15):
1MX1 (3D)        1MX5 (3D)        1MX9 (3D)        1YA4 (3D)        1YA8 (3D)        1YAH (3D)    
Secondary accessions: A6NIM1 A8K3K8 A8K844 P82127 Q00015 Q13657 Q14062 Q16737 Q16788 Q549X7 Q549X8
Q86UK2 Q96EE8 Q9UC52 Q9UDG8 Q9UK77 Q9ULY2
Alternative splicing: 2 isoforms:  P23141-1   P23141-2   

Explore the universe of human proteins at neXtProt for CES1: NX_P23141

Post-translational modifications:

  • Contains sialic acid1
  • Cleavage of the signal sequence can occur at 2 positions, either between Trp-17 and Gly-18 or between Gly-18 and His-191
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P23141

  • 4/19 DME Specific Peptides for CES1 (P23141) (see all 19)
     NIASFGG  LSKMVMK  AALRWVQ  HRDAGAP 

    CES1 Protein expression data from MOPED and PaxDb:    About this image 
    CES1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001020365.1  NP_001020366.1  NP_001257.4  

    ENSEMBL proteins: 
     ENSP00000455902   ENSP00000353720   ENSP00000390492   ENSP00000455959   ENSP00000355193  
     ENSP00000456865  

    Human Recombinant Protein Products for CES1: 
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    OriGene Purified Proteins (see all 2): CES1
    OriGene Protein Over-expression Lysate (see all 2): CES1
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    Novus Biologicals CES1 Protein
    Novus Biologicals CES1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CES1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005788endoplasmic reticulum lumen IEA--

    CES1 for ontologies           About GeneDecksing



    CES1 Antibody Products: 
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    Uscn ELISAs and CLIAs for CES1


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

    CES1 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 P23141

    ProtoNet protein and cluster: P23141

    UniProtKB/Swiss-Prot: EST1_HUMAN, P23141
    Similarity: Belongs to the type-B carboxylesterase/lipase family


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EST1_HUMAN, P23141
    Function: Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Hydrolyzes
    aromatic and aliphatic esters, but has no catalytic activity toward amides or a fatty acyl-CoA ester. Hydrolyzes the
    methyl ester group of cocaine to form benzoylecgonine. Catalyzes the transesterification of cocaine to form
    cocaethylene. Displays fatty acid ethyl ester synthase activity, catalyzing the ethyl esterification of oleic acid to
    ethyloleate
    Catalytic activity: A carboxylic ester + H(2)O = an alcohol + a carboxylate
    Catalytic activity: 4-methylumbelliferyl acetate + H(2)O = 4-methylumbelliferone + acetate
    Enzyme regulation: Activated by CHAPS
    Biophysicochemical properties: Kinetic parameters: KM=106.6 uM for p-nitrophenyl acetate; KM=775.7 uM for
    L-methylphenidate; KM=663.5 uM for D-methylphenidate; KM=116 uM for cocaine; KM=43 mM for ethanol; KM=0.8 mM for
    4-methylumbelliferyl acetate; KM=6.3 mM for heroin; KM=8.3 mM for 6-monoacetylmorphine; Vmax=493.9 nmol/min/mg enzyme
    with p-nitrophenyl acetate as substrate; Vmax=1701.1 pmol/min/mg enzyme with L-methylphenidate as substrate;
    Vmax=177.2 pmol/min/mg enzyme with D-methylphenidate as substrate; pH dependence: Optimum pH is 6.5;

         Genatlas biochemistry entry for CES1:
    carboxylesterase 1,expressed in brain,located in the endoplasmic reticulum,catalyzing the hydrolysis of
    temocapril,p-nitrophenyl-acetate and long chain acyl-CoA,putatively functioning as a blood-brain barrier to protect
    the CNS from ester or amide compounds

         Enzyme Numbers (IUBMB): EC 3.1.1.11 2 EC 3.1.12 EC 3.1.1.561

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004091carboxylesterase activity IBA--
    GO:0016787hydrolase activity ----
    GO:0047374methylumbelliferyl-acetate deacetylase activity IEA--
    GO:0050253retinyl-palmitate esterase activity IEA--
    GO:0080030methyl indole-3-acetate esterase activity IEA--
         
    CES1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CES1:
     Decreased circadian period len  Decreased nuclei size in G2M 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CES1 

    miRNA
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    miRTarBase miRNAs that target CES1:
    hsa-mir-197 (MIRT004206)

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CES1
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    SwitchGear 3'UTR luciferase reporter plasmidCES1 3' UTR sequence
    Inhib. RNA
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    Sirion Biotech Custom design and validation of potent shRNA sequences against CES1 

    Gene Editing
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CES1


    (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 - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Irinotecan Pathway, Pharmacokinetics
    Irinotecan Pathway, Pharmacokinetics1.00
    Irinotecan Pathway, Pharmacodynamics0.50
    Irinotecan Pathway0.73
    Mycophenolic acid Pathway, Pharmacokinetics0.50
    2Fluoropyrimidine Activity
    Fluoropyrimidine Activity1.00
    Fluoropyrimidine Pathway, Pharmacokinetics0.73
    3E2F transcription factor network
    E2F transcription factor network1.00
    4the visual cycle I (vertebrates)
    retinol biosynthesis0.52
    5Metabolism
    Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for CES1
        Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)

    4 BioSystems Pathways for CES1 
        Fluoropyrimidine Activity
    Irinotecan Pathway
    E2F transcription factor network
    retinol biosynthesis

    5 PharmGKB Pathways for CES1
        Clopidogrel Pathway, Pharmacokinetics
    Fluoropyrimidine Pathway, Pharmacokinetics
    Irinotecan Pathway, Pharmacodynamics
    Irinotecan Pathway, Pharmacokinetics
    Mycophenolic acid Pathway, Pharmacokinetics

    2         Kegg Pathways  (Kegg details for CES1):
        Drug metabolism - other enzymes
    Metabolic pathways


    CES1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CES1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/12 Interacting proteins for CES1 (P231413 ENSP000003537204) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GUSBP082363, ENSP000003027284I2D: score=2 STRING: ENSP00000302728
    BMPR2Q138733, ENSP000003637084I2D: score=2 STRING: ENSP00000363708
    CREB3O438893I2D: score=1 
    TRIP13Q156453I2D: score=1 
    CES3ENSP000003047824STRING: ENSP00000304782
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008152metabolic process TAS1918003
    GO:0009636response to toxin TAS1918003

    CES1 for ontologies           About GeneDecksing



    (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

    CES1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CES1

    10/334 HMDB Compounds for CES1 (see all 334)    About this table
    CompoundSynonyms CAS #PubMed Ids
    TG(15:0/16:0/20:2(11Z,14Z))[iso6]Tracylglycerol(15:0/16:0/20:2) (see all 15)--12486725
    TG(15:0/16:0/20:3(8Z,11Z,14Z))[iso6]TAG(15:0/16:0/20:3n6) (see all 16)--12486725
    TG(15:0/16:0/20:4(5Z,8Z,11Z,14Z))[iso6]TAG(15:0/16:0/20:4n6) (see all 15)--12486725
    TG(15:0/18:0/18:2(9Z,12Z))[iso6]TG(15:0/18:0/18:2w6) (see all 15)--12486725
    TG(15:0/18:0/18:3(9Z,12Z,15Z))[iso6]TAG(51:3) (see all 16)--12486725
    TG(15:0/18:1(9Z)/16:0)[iso6]Tracylglycerol(15:0/18:1w9/16:0) (see all 15)--12486725
    TG(15:0/18:1(9Z)/16:1(9Z))[iso6]TG(15:0/18:1/16:1) (see all 15)--12486725
    TG(15:0/18:1(9Z)/18:1(9Z))[iso3]TG(15:0/18:1n9/18:1n9) (see all 15)--12486725
    TG(15:0/18:1(9Z)/18:2(9Z,12Z))[iso6]Tracylglycerol(15:0/18:1/18:2) (see all 15)--12486725
    TG(15:0/18:1(9Z)/18:3(9Z,12Z,15Z))[iso6]Tracylglycerol(15:0/18:1/18:3) (see all 16)--12486725

    10/20 DrugBank Compounds for CES1 (see all 20)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Capecitabine-- 154361-50-9enzymesubstrate11291832 12866042 10630095 11587492 11081570
    Alpha-D-Mannose-- 3458-28-4target--17139284 17016423 10592235
    IrinotecanIrinotecan Hcl (see all 4)100286-90-6enzymesubstrate19852077 9342501 9726089
    Oseltamivir-- 204255-11-8targetother16966469 19104028 19022936
    Thenoyltrifluoroacetone.alpha.-Thenoyltrifluoroacetone (see all 7)326-91-0target--11992644 10592235
    (1R)-1,2,2-TRIMETHYLPROPYL (R)-METHYLPHOSPHINATE-- --target--10592235
    (1S,7S,8S,8AR)-1,2,3,7,8,8A-HEXAHYDRO-7-METHYL-8-[2-[(2R,4R)-TETRAHYDRO-4-HY DROXY-6-OXO-2H-PYRAN-2-YL]ETHYL]-1-NAPHTHALENOL-- --target--10592235
    4-Piperidino-Piperidine-- --target--10592235
    BenzocaineEthyl Aminobenzoate (see all 7)94-09-7enzymeinhibitor7470208
    Cholic Acid-- 81-25-4target--10592235

    10/84 Novoseek chemical compound relationships for CES1 gene (see all 84)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cl 277082 88.2 3 9500571 (1), 8695654 (1), 11882317 (1)
    4-methylumbelliferyl acetate 83.9 3 9169443 (2), 14581373 (1)
    avasimibe 83.8 10 12360153 (2), 12595916 (2), 15678619 (2), 15533865 (1) (see all 6)
    3-(decyldimethylsilyl)-n-(2-(4-methylphenyl)-1-phenylethyl)propanamide 83.1 3 16835370 (1), 14617686 (1)
    2,2-dimethyl-n-(2,4,6-trimethoxyphenyl)dodecanamide 82.1 5 1675757 (2), 15169972 (1), 7815329 (1)
    cholesteryl oleate 81.9 1 9500571 (1)
    pyripyropene a 81 2 10890154 (1), 9127194 (1)
    diethylumbelliferyl phosphate 80.7 1 7835165 (1)
    cholesterol ester 78.7 20 8025134 (1), 9559268 (1), 11676294 (1), 16962139 (1) (see all 12)
    cholesterol 78.4 323 8185666 (9), 9500571 (6), 7756263 (4), 8695654 (4) (see all 99)

    1 PharmGKB related drug/compound annotation for CES1 gene    About this table
    Drug/compound PharmGKB Annotation
    methylphenidateCA  
    Search CenterWatch for drugs/clinical trials and news about CES1 / EST1 

    (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, Sirion Biotech, 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 CES1 gene (3 alternative transcripts): 
    NM_001025194.1  NM_001025195.1  NM_001266.4  

    Unigene Cluster for CES1:

    Carboxylesterase 1
    Hs.558865  [show with all ESTs]
    Unigene Representative Sequence: NM_001025195
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000565568 ENST00000360526(uc002eil.3) ENST00000422046(uc002eim.3 uc002ein.3)
    ENST00000563241 ENST00000361503 ENST00000569260 ENST00000563005 ENST00000565403
    ENST00000566555

    miRNA
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB025026.1 AB119995.1 AB119996.1 AF177775.1 AK290623.1 AK292209.1 AK301651.1 AY268104.1 
    BC012418.1 BC110338.1 L07764.1 L07765.1 M55509.1 M65261.1 M73499.1 S73751.1 
    X52973.1 

    14 DOTS entries:

    DT.455216  DT.100828227  DT.95133731  DT.99982604  DT.100718449  DT.120708401  DT.92437980  DT.100828223 
    DT.86855737  DT.92437982  DT.97858163  DT.100037180  DT.100828228  DT.95133747 

    24/277 AceView cDNA sequences (see all 277):

    BU741184 BI906521 AI129284 BQ775275 BI835467 CA308899 AB119995 CA310133 
    BU164515 AB025026 CB164600 BU678185 BM708510 AW138926 CD706259 BU732288 
    CB154136 BX107798 CB110009 BQ774702 BI822226 CB162528 CA438448 AW006490 

    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™, 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

    CES1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGGAGCAAG
    CES1 Expression
    About this image
    See CES1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CES1

    SOURCE GeneReport for Unigene cluster: Hs.558865

    UniProtKB/Swiss-Prot: EST1_HUMAN, P23141
    Tissue specificity: Expressed predominantly in liver with lower levels in heart and lung

        SABiosciences Expression via Pathway-Focused PCR Arrays including CES1: 
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    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CES1

    (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 CES1 gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CES16
    CES16
    Uncharacterized protein
    51(a)
    49(a)
    1 ↔ many
    1 ↔ many
    11(11990681-11998203)
    11(12001166-12014720)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC3948972 hypothetical protein LOC394897 70.65(n)    BC064228.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ces26
    ces36
    (see all 3)
    carboxylesterase 3
    (see all 3)
    40(a)
    40(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    18(17067638-17074777)
    18(17077342-17085474)
    worm
    (Caenorhabditis elegans)
    Secernentea B0238.133 carboxylesterase 38(a)
    (best of 20)
      V(5243629-5247833)   --


    ENSEMBL Gene Tree for CES1 (if available)
    TreeFam Gene Tree for CES1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CES1 gene
    NLGN12  CES22  ACHE2  CES4A2  NLGN4X2  NLGN4Y2  CES32  NLGN32  
    NLGN22  CEL2  BCHE2  CES5A2  
    13 SIMAP similar genes for CES1 using alignment to 6 protein entries:     EST1_HUMAN (see all proteins):
    CES1P1    CES hBr2    CES8    CES3    CES4A    CES2
    CES5A    DKFZp686F02202    NLGN3    ACHE    BCHE    CEL
    NLGN1

    CES1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for CES1
    PGOHUM00000262339 PGOHUM00000250685 PGOHUM00000262340


    (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

    10/849 NCBI SNPs in CES1 are shown (see all 849    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2003682451,2
    F--55837475(+) CATCAC/TCATCT 12 M V mis11Minor allele frequency- T:0.14EU 153
    rs1822893241,2
    --55840443(+) GGTCTC/TCAGCT 3 -- int10--------
    rs1996164821,2
    --55842227(+) ACAAT-/CACAA 
            
    CACAA
    6 -- int10--------
    rs1145482981,2
    F--55842361(+) TCTTGT/CTGGTG 3 -- int11Minor allele frequency- C:0.02WA 118
    rs81929501,2
    C,F,H--55842404(-) GATTAA/CAAATT 6 -- int118Minor allele frequency- C:0.34NS EA NA CSA WA 2334
    rs21686101,2
    C,O--55842408(+) TTTAAC/TCTTAG 6 -- int16Minor allele frequency- T:0.41NA WA EA 364
    rs1478561251,2
    --55842465(+) TGGAAG/TGCAAT 3 -- int10--------
    rs1866048951,2
    --55842492(+) AAAGTC/TCTAAA 3 -- int10--------
    rs1396293481,2
    --55842577(+) ACTTAC/TGAACA 3 -- int10--------
    rs287094561,2
    C,F,H--55842641(+) CATCTA/CATAGG 6 -- int118Minor allele frequency- C:0.13NS EA NA WA 2340

    HapMap Linkage Disequilibrium report for CES1 (55836763 - 55867249 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 11 variations for CES1
         6 CNVs: 67001 37794 4007 30784 58763 7118
         5 Inversions: 59912 0488 0487 103337 37182
    Human Gene Mutation Database (HGMD): CES1

    SABiosciences Cancer Mutation PCR Assays
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    (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

    CES1 for disorders           About GeneDecksing

    OMIM gene information: 114835    OMIM disorders: --

    20/34 diseases for CES1 (see all 34):    About MalaCards
    carboxylesterase 1 deficiency    cholesterol    niemann-pick disease    leydig cell tumor
    hepatic lipase deficiency    intrahepatic cholestasis    intrahepatic cholestasis of pregnancy    pick's disease
    reye syndrome    cholestasis    hypertriglyceridemia    hyperlipoproteinemia
    intrahepatic cholangiocarcinoma    hypercholesterolemia    alzheimer's disease    autoimmune hepatitis
    atherosclerosis    hepatitis c    adhd    influenza

    10/18 Novoseek disease relationships for CES1 gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atherosclerosis 55.1 30 16518538 (3), 11461099 (2), 12360153 (2), 17885686 (2) (see all 17)
    leydig cell tumor 45.9 2 1332853 (2)
    atherosclerotic plaque 38 1 16971496 (1)
    hypercholesterolemia 29.8 6 10638223 (1), 8953507 (1), 8230120 (1), 7815329 (1) (see all 5)
    coronary atherosclerosis 21.1 1 12360153 (1)
    colon carcinoma 19.7 5 16963839 (2), 17146959 (1), 1639221 (1), 1892896 (1)
    fatty liver 11.7 2 9219899 (1), 12822207 (1)
    necrosis 4.68 2 8920872 (1), 17885686 (1)
    hypertriglyceridemia 0 1 16403839 (1)
    cardiovascular diseases 0 1 12437499 (1)

    Genetic Association Database (GAD): CES1
    Human Genome Epidemiology (HuGE) Navigator: CES1 (12 documents)

    Export disorders for CES1 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)
    About This Section

    PubMed articles for CES1 gene, integrated from 9 sources (see all 345):
    (articles sorted by number of sources associating them with CES1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning and characterization of human monocyte/macrophage serine esterase-1. (PubMed id 2070086)1, 2, 3, 9 Zschunke F....Radzun H.J. (1991)
    2. Cholesteryl ester hydrolase in human monocyte/macrophage: cloning, sequencing, and expression of full-length cDNA. (PubMed id 11015575)1, 2, 9 Ghosh S. (2000)
    3. Determination and analysis of single nucleotide polymorphisms and haplotype structure of the human carboxylesterase 2 gene. (PubMed id 15475733)1, 4, 9 Wu M.H....Dolan M.E. (2004)
    4. Two CES1 gene mutations lead to dysfunctional carboxylesterase 1 activity in man: clinical significance and molecular basis. (PubMed id 18485328)1, 2, 9 Zhu H.J....Markowitz J.S. (2008)
    5. Purification, cloning, and expression of a human enzyme with acyl coenzyme A: cholesterol acyltransferase activity, which is identical to liver carboxylesterase. (PubMed id 8049197)1, 2, 9 Becker A.... Schmitz G. (1994)
    6. Heterologous expression, purification, and characterization of human triacylglycerol hydrolase. (PubMed id 11812220)1, 2, 9 Alam M.... Lehner R. (2002)
    7. Structure-function analysis of human triacylglycerol hydrolase by site-directed mutagenesis: identification of the catalytic triad and a glycosylation site. (PubMed id 12022871)1, 2, 9 Alam M.... Lehner R. (2002)
    8. Crystal structure of human carboxylesterase 1 complexed with the Alzheimer's drug tacrine. From binding promiscuity to selective inhibition. (PubMed id 12725862)1, 2, 9 Bencharit S.... Redinbo M.R. (2003)
    9. Irinotecan pathway genotype analysis to predict pharmacokinetics. (PubMed id 12960109)1, 4, 9 Mathijssen R.H....McLeod H.L. (2003)
    10. Structural basis of heroin and cocaine metabolism by a promiscuous human drug-processing enzyme. (PubMed id 12679808)1, 2, 9 Bencharit S.... Redinbo M.R. (2003)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1066 HGNC: 1863 AceView: CES1 Ensembl:ENSG00000198848 euGenes: HUgn1066
    ECgene: CES1 Kegg: 1066 H-InvDB: CES1

    (According to HUGE)
    About This Section
      --

    (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 CES1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CES1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CES1 gene:
    Search GeneIP for patents involving CES1

    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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