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Aliases for CES1 Gene

Aliases for CES1 Gene

  • Carboxylesterase 1 2 3 4 5
  • Carboxylesterase 1 (Monocyte/Macrophage Serine Esterase 1) 2 3
  • Human Monocyte/Macrophage Serine Esterase 1 2 3
  • Methylumbelliferyl-Acetate Deacetylase 1 3 4
  • Monocyte/Macrophage Serine Esterase 3 4
  • Brain Carboxylesterase HBr1 3 4
  • Triacylglycerol Hydrolase 3 4
  • Cocaine Carboxylesterase 3 4
  • Retinyl Ester Hydrolase 3 4
  • Serine Esterase 1 3 4
  • EC 3.1.1.1 4 61
  • Egasyn 3 4
  • HCE-1 3 4
  • ACAT 3 4
  • CE-1 3 4
  • CES2 3 4
  • HMSE 3 4
  • SES1 3 4
  • REH 3 4
  • TGH 3 4
  • Acyl Coenzyme A:Cholesterol Acyltransferase 3
  • Acyl-Coenzyme A:Cholesterol Acyltransferase 4
  • Cholesteryl Ester Hydrolase 3
  • Carboxylesterase 2 (Liver) 3
  • Liver Carboxylesterase 1 3
  • EC 3.1.1.56 4
  • EC 3.1.1 61
  • HMSE1 3
  • PCE-1 3
  • CEH 3

External Ids for CES1 Gene

Previous GeneCards Identifiers for CES1 Gene

  • GC16M046044
  • GC16P055849
  • GC16P055518
  • GC16M055613
  • GC16M055615
  • GC16M054395
  • GC06P023997

Summaries for CES1 Gene

Entrez Gene Summary for CES1 Gene

  • 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]

GeneCards Summary for CES1 Gene

CES1 (Carboxylesterase 1) is a Protein Coding gene. Diseases associated with CES1 include Marcus Gunn Phenomenon and Reye Syndrome. Among its related pathways are Metabolism and Cytochrome P450 - arranged by substrate type. GO annotations related to this gene include hydrolase activity and methylumbelliferyl-acetate deacetylase activity. An important paralog of this gene is CES2.

UniProtKB/Swiss-Prot for CES1 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CES1 Gene

Genomics for CES1 Gene

Regulatory Elements for CES1 Gene

Enhancers for CES1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F055832 0.2 ENCODE 15.6 +0.2 239 1.3 ARID4B DMAP1 ZNF48 YY1 SLC30A9 SP5 ZHX2 MIER2 REST PPARG CES1 CES1P1 CES1P2
GH16F055835 1.2 FANTOM5 Ensembl ENCODE 14.4 -2.9 -2869 1.9 ELF3 PKNOX1 MLX ARID4B ZSCAN9 RARA YY1 ZNF366 USF2 CEBPB CES1 MMP2 CES5A
GH16F055833 1 FANTOM5 Ensembl 12.1 -0.8 -817 0.7 PKNOX1 MTA2 IKZF1 NBN TBX21 SPI1 CES1 MMP2 CES5A
GH16F055837 0.3 FANTOM5 8.3 -4.6 -4599 0.2 NRF1 ZKSCAN8 HNF4G MNT YY1 MMP2 CES1 CES5A
GH16F055761 0.5 Ensembl 7 +71.5 71537 0.4 CES1P1 CES1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CES1 on UCSC Golden Path with GeneCards custom track

Promoters for CES1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000507864 437 601 ELF3 TBP ZFP64 ARID4B DMAP1 ZNF48 ZSCAN9 YY1 SLC30A9 CREM

Genomic Location for CES1 Gene

Chromosome:
16
Start:
55,802,851 bp from pter
End:
55,833,337 bp from pter
Size:
30,487 bases
Orientation:
Minus strand

Genomic View for CES1 Gene

Genes around CES1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CES1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CES1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CES1 Gene

Proteins for CES1 Gene

  • Protein details for CES1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23141-EST1_HUMAN
    Recommended name:
    Liver carboxylesterase 1
    Protein Accession:
    P23141
    Secondary Accessions:
    • A6NIM1
    • A8K3K8
    • A8K844
    • E9PAU8
    • P82127
    • Q00015
    • Q13657
    • Q14062
    • Q16737
    • Q16788
    • Q549X7
    • Q549X8
    • Q86UK2
    • Q96EE8
    • Q9UC52
    • Q9UDG8
    • Q9UK77
    • Q9ULY2

    Protein attributes for CES1 Gene

    Size:
    567 amino acids
    Molecular mass:
    62521 Da
    Quaternary structure:
    • Homotrimer and homohexamer. Binds to beta-glucuronidase.
    SequenceCaution:
    • Sequence=AAA83932.1; Type=Frameshift; Positions=301, 312, 318, 383, 391; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CES1 Gene

    Alternative splice isoforms for CES1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CES1 Gene

Selected DME Specific Peptides for CES1 Gene

P23141:
  • LSKMVMK
  • HRDAGAP
  • GHPSSPP
  • IQYRLGIWGFFST
  • PLGPLRF
  • AGCKTTTSA
  • GFFSTGD
  • EGYLQIG
  • FLGIPFA
  • HENVVVV
  • NIASFGG
  • WVQDNIA
  • CLRQKTE
  • SEDCLYLNI
  • PVMVWIHGG
  • PAEPWSFVK
  • AALRWVQ
  • HRAISESGV
  • LKEGASEEE

Post-translational modifications for CES1 Gene

  • Cleavage of the signal sequence can occur at 2 positions, either between Trp-17 and Gly-18 or between Gly-18 and His-19.
  • Contains sialic acid.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for CES1 (Carboxylesterase 1/CES1)

Domains & Families for CES1 Gene

Gene Families for CES1 Gene

Protein Domains for CES1 Gene

Suggested Antigen Peptide Sequences for CES1 Gene

Graphical View of Domain Structure for InterPro Entry

P23141

UniProtKB/Swiss-Prot:

EST1_HUMAN :
  • Belongs to the type-B carboxylesterase/lipase family.
Family:
  • Belongs to the type-B carboxylesterase/lipase family.
genes like me logo Genes that share domains with CES1: view

Function for CES1 Gene

Molecular function for CES1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=106.6 uM for p-nitrophenyl acetate {ECO:0000269 PubMed:18485328, ECO:0000269 PubMed:7980644, ECO:0000269 PubMed:9169443, ECO:0000269 PubMed:9490062}; KM=775.7 uM for L-methylphenidate {ECO:0000269 PubMed:18485328, ECO:0000269 PubMed:7980644, ECO:0000269 PubMed:9169443, ECO:0000269 PubMed:9490062}; KM=663.5 uM for D-methylphenidate {ECO:0000269 PubMed:18485328, ECO:0000269 PubMed:7980644, ECO:0000269 PubMed:9169443, ECO:0000269 PubMed:9490062}; KM=116 uM for cocaine {ECO:0000269 PubMed:18485328, ECO:0000269 PubMed:7980644, ECO:0000269 PubMed:9169443, ECO:0000269 PubMed:9490062}; KM=43 mM for ethanol {ECO:0000269 PubMed:18485328, ECO:0000269 PubMed:7980644, ECO:0000269 PubMed:9169443, ECO:0000269 PubMed:9490062}; KM=0.8 mM for 4-methylumbelliferyl acetate {ECO:0000269 PubMed:18485328, ECO:0000269 PubMed:7980644, ECO:0000269 PubMed:9169443, ECO:0000269 PubMed:9490062}; KM=6.3 mM for heroin {ECO:0000269 PubMed:18485328, ECO:0000269 PubMed:7980644, ECO:0000269 PubMed:9169443, ECO:0000269 PubMed:9490062}; KM=8.3 mM for 6-monoacetylmorphine {ECO:0000269 PubMed:18485328, ECO:0000269 PubMed:7980644, ECO:0000269 PubMed:9169443, ECO:0000269 PubMed:9490062}; Vmax=493.9 nmol/min/mg enzyme with p-nitrophenyl acetate as substrate {ECO:0000269 PubMed:18485328, ECO:0000269 PubMed:7980644, ECO:0000269 PubMed:9169443, ECO:0000269 PubMed:9490062}; Vmax=1701.1 pmol/min/mg enzyme with L-methylphenidate as substrate {ECO:0000269 PubMed:18485328, ECO:0000269 PubMed:7980644, ECO:0000269 PubMed:9169443, ECO:0000269 PubMed:9490062}; Vmax=177.2 pmol/min/mg enzyme with D-methylphenidate as substrate {ECO:0000269 PubMed:18485328, ECO:0000269 PubMed:7980644, ECO:0000269 PubMed:9169443, ECO:0000269 PubMed:9490062}; pH dependence: Optimum pH is 6.5. {ECO:0000269 PubMed:18485328, ECO:0000269 PubMed:7980644, ECO:0000269 PubMed:9169443, ECO:0000269 PubMed:9490062};
UniProtKB/Swiss-Prot CatalyticActivity:
A carboxylic ester + H(2)O = an alcohol + a carboxylate.
UniProtKB/Swiss-Prot CatalyticActivity:
4-methylumbelliferyl acetate + H(2)O = 4-methylumbelliferone + acetate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by CHAPS.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for CES1 Gene

Gene Ontology (GO) - Molecular Function for CES1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004771 sterol esterase activity IDA 11015575
GO:0016787 hydrolase activity IEA --
GO:0047374 methylumbelliferyl-acetate deacetylase activity IEA --
GO:0052689 carboxylic ester hydrolase activity IEA,TAS --
genes like me logo Genes that share ontologies with CES1: view
genes like me logo Genes that share phenotypes with CES1: view

Human Phenotype Ontology for CES1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CES1 Gene

MGI Knock Outs for CES1:

Animal Model Products

miRNA for CES1 Gene

miRTarBase miRNAs that target CES1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CES1 Gene

Localization for CES1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CES1 Gene

Endoplasmic reticulum lumen.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CES1 Gene COMPARTMENTS Subcellular localization image for CES1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 4
cytosol 3
vacuole 2
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CES1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen IEA,TAS --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with CES1: view

Pathways & Interactions for CES1 Gene

genes like me logo Genes that share pathways with CES1: view

Gene Ontology (GO) - Biological Process for CES1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006695 cholesterol biosynthetic process IDA 11015575
GO:0006805 xenobiotic metabolic process TAS --
GO:0008152 metabolic process TAS 1918003
GO:0009636 response to toxic substance TAS 1918003
GO:0030855 epithelial cell differentiation IDA 21492153
genes like me logo Genes that share ontologies with CES1: view

No data available for SIGNOR curated interactions for CES1 Gene

Drugs & Compounds for CES1 Gene

(80) Drugs for CES1 Gene - From: DrugBank, PharmGKB, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Capecitabine Approved, Investigational Pharma Enzyme, substrate RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1296
cholic acid Approved Pharma Full agonist, Agonist, Target 0
Cyclandelate Approved Pharma Target 0
Irinotecan Approved, Investigational Pharma Enzyme, substrate Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1080
Oseltamivir Approved Pharma Target, other 101

(89) Additional Compounds for CES1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Methylumbelliferyl acetate
  • 4-Methyl-7-acetyloxy coumarin
  • 4-Methylumbelliferyl acetate
  • 7-(Acetyloxy)-4-methyl-2-benzopyrone
  • 7-Acetoxy-4-methyl-2H-1-benzopyran-2-one
  • 7-Acetoxy-4-methylcoumarin
2747-05-9
1,4'-Bipiperidine-1'-carboxylic acid
1-Pentanol
  • 1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Alcool amylique (french)
71-41-0
4-Amino-1-piperidinecarboxylic acid
4-methylumbelliferone
genes like me logo Genes that share compounds with CES1: view

Transcripts for CES1 Gene

Unigene Clusters for CES1 Gene

Carboxylesterase 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CES1 Gene

No ASD Table

Relevant External Links for CES1 Gene

GeneLoc Exon Structure for
CES1
ECgene alternative splicing isoforms for
CES1

Expression for CES1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CES1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CES1 Gene

This gene is overexpressed in Liver (x23.9).

Protein differential expression in normal tissues from HIPED for CES1 Gene

This gene is overexpressed in Liver (36.7) and Liver, secretome (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CES1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CES1 Gene:

CES1

SOURCE GeneReport for Unigene cluster for CES1 Gene:

Hs.558865

mRNA Expression by UniProt/SwissProt for CES1 Gene:

P23141-EST1_HUMAN
Tissue specificity: Expressed predominantly in liver with lower levels in heart and lung.
genes like me logo Genes that share expression patterns with CES1: view

Primer Products

No data available for Protein tissue co-expression partners for CES1 Gene

Orthologs for CES1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CES1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CES1 35
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CES1 34 35
  • 83.76 (n)
-- 35
  • 77 (a)
OneToMany
BREH1 35
  • 72 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CES1 34
  • 83.48 (n)
CESDD1 35
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ces1d 34 16
  • 80.83 (n)
Ces1a 35
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ces1d 34
  • 80.59 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 65 (a)
OneToMany
-- 35
  • 57 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 61 (a)
OneToMany
-- 35
  • 60 (a)
OneToMany
chicken
(Gallus gallus)
Aves CES1 34
  • 59.46 (n)
-- 35
  • 52 (a)
ManyToMany
-- 35
  • 50 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493819 34
  • 56.46 (n)
LOC394897 34
zebrafish
(Danio rerio)
Actinopterygii si:ch211-93f2.1 34 35
  • 54.35 (n)
ces3 35
  • 42 (a)
ManyToMany
ces2 35
  • 41 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8424 36
  • 38 (a)
alpha-Est7 36
  • 31 (a)
alpha-Est8 36
  • 31 (a)
BcDNA:GH05741 36
  • 31 (a)
alpha-Est10 36
  • 30 (a)
alpha-Est6 36
  • 30 (a)
CG10175 36
  • 30 (a)
CG6414 36
  • 30 (a)
CG9289 36
  • 30 (a)
alpha-Est2 36
  • 29 (a)
clt 36
  • 29 (a)
Est-6 36
  • 29 (a)
Est-P 36
  • 29 (a)
alpha-Est4 36
  • 28 (a)
alpha-Est9 36
  • 28 (a)
CG3841 36
  • 28 (a)
CG5397 36
  • 28 (a)
CG6018 36
  • 28 (a)
CG10339 36
  • 26 (a)
CG7529 36
  • 26 (a)
Jhe 36
  • 26 (a)
worm
(Caenorhabditis elegans)
Secernentea B0238.13 36
  • 38 (a)
R173.3 36
  • 37 (a)
Y75B8A.3 36
  • 35 (a)
Y71H2AM.13 36
  • 32 (a)
C52A10.1 36
  • 31 (a)
C52A10.2 36
  • 31 (a)
F13H6.3 36
  • 31 (a)
F15A8.6 36
  • 31 (a)
F07C4.12 36
  • 30 (a)
B0238.1 36
  • 29 (a)
F13H6.4 36
  • 29 (a)
B0238.7 36
  • 28 (a)
ges-1 36
  • 28 (a)
K11G9.2 36
  • 28 (a)
T02B5.3 36
  • 28 (a)
K07C11.4 36
  • 27 (a)
K11G9.1 36
  • 27 (a)
T07H6.1a 36
  • 27 (a)
T02B5.1 36
  • 26 (a)
ZC376.2 36
  • 25 (a)
Species where no ortholog for CES1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CES1 Gene

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

Paralogs for CES1 Gene

Paralogs for CES1 Gene

(12) SIMAP similar genes for CES1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for CES1 Gene

genes like me logo Genes that share paralogs with CES1: view

Variants for CES1 Gene

Sequence variations from dbSNP and Humsavar for CES1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs147586145 -- 55,827,277(+) ATAAC(-/AAT/AATAATAATAAT)AATAA intron-variant
rs201012250 -- 55,831,528(+) AGTTT(-/G)TTTAA intron-variant
rs2307227 --
rs2307240 --
rs2307243 --

Structural Variations from Database of Genomic Variants (DGV) for CES1 Gene

Variant ID Type Subtype PubMed ID
dgv122n111 CNV deletion 26073780
dgv15e197 OTHER inversion 19546169
dgv2987n100 CNV gain 25217958
dgv479n67 CNV gain 20364138
dgv5135n54 CNV gain 21841781
dgv5136n54 CNV gain 21841781
dgv5137n54 CNV gain 21841781
dgv523e214 CNV gain 21293372
dgv52e203 CNV gain+loss 21179565
dgv62e19 OTHER inversion 19470904
dgv840e212 CNV gain 25503493
dgv841e212 CNV loss 25503493
dgv842e212 CNV gain 25503493
dgv843e212 CNV gain 25503493
esv1010290 OTHER inversion 20482838
esv2758649 CNV gain 17122850
esv28619 CNV gain 19812545
esv2937123 CNV duplication 24192839
esv32573 CNV gain+loss 17666407
esv3336851 CNV insertion 20981092
esv3571320 CNV gain 25503493
esv3638688 CNV loss 21293372
esv3892862 CNV gain+loss 25118596
esv3892863 CNV loss 25118596
esv9659 OTHER inversion 19470904
esv9707 OTHER inversion 19470904
esv998750 OTHER inversion 20482838
nsv1077830 CNV duplication 25765185
nsv1110287 CNV duplication 24896259
nsv147 OTHER inversion 15895083
nsv148 OTHER inversion 15895083
nsv442724 CNV gain 18776908
nsv471382 CNV gain 19718026
nsv499134 OTHER inversion 21111241
nsv572632 CNV gain 21841781
nsv572635 CNV loss 21841781
nsv572687 CNV gain 21841781
nsv572688 CNV loss 21841781
nsv572690 CNV gain+loss 21841781
nsv572693 CNV loss 21841781
nsv7284 OTHER inversion 18451855
nsv820205 CNV gain 19587683
nsv827676 CNV gain 20364138
nsv9446 CNV gain 18304495
nsv977981 CNV duplication 23825009

Variation tolerance for CES1 Gene

Residual Variation Intolerance Score: 98.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.79; 79.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CES1 Gene

Human Gene Mutation Database (HGMD)
CES1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CES1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CES1 Gene

Disorders for CES1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CES1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
marcus gunn phenomenon
  • jaw-winking syndrome
reye syndrome
  • retinoschisis 1, x-linked, juvenile
sparganosis
  • infection by sparganum
cystic echinococcosis
  • echinococcus granulosus infection
niemann-pick disease
  • niemann-pick disease, type a
- elite association - COSMIC cancer census association via MalaCards
Search CES1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CES1

Genetic Association Database (GAD)
CES1
Human Genome Epidemiology (HuGE) Navigator
CES1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CES1
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No data available for UniProtKB/Swiss-Prot and Genatlas for CES1 Gene

Publications for CES1 Gene

  1. Two CES1 gene mutations lead to dysfunctional carboxylesterase 1 activity in man: clinical significance and molecular basis. (PMID: 18485328) Zhu H.-J. … Markowitz J.S. (Am. J. Hum. Genet. 2008) 3 4 22 46 64
  2. cDNA cloning and characterization of human monocyte/macrophage serine esterase-1. (PMID: 2070086) Zschunke F. … Radzun H.J. (Blood 1991) 2 3 4 22 64
  3. A single nucleotide polymorphism in the carboxylesterase gene is associated with the responsiveness to imidapril medication and the promoter activity. (PMID: 16419644) Geshi E. … Katagiri T. (Hypertens. Res. 2005) 3 22 46 64
  4. Determination and analysis of single nucleotide polymorphisms and haplotype structure of the human carboxylesterase 2 gene. (PMID: 15475733) Wu M.H. … Dolan M.E. (Pharmacogenetics 2004) 3 22 46 64
  5. Structural basis of heroin and cocaine metabolism by a promiscuous human drug-processing enzyme. (PMID: 12679808) Bencharit S. … Redinbo M.R. (Nat. Struct. Biol. 2003) 3 4 22 64

Products for CES1 Gene

Sources for CES1 Gene

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