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CES3 carboxylesterase 3 [ Homo sapiens (human) ]

Gene ID: 23491, updated on 28-Oct-2024

Summary

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Official Symbol
CES3provided by HGNC
Official Full Name
carboxylesterase 3provided by HGNC
Primary source
HGNC:HGNC:1865
See related
Ensembl:ENSG00000172828 MIM:605279; AllianceGenome:HGNC:1865
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ES31
Summary
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 gene is expressed in several tissues, particularly in colon, trachea and in brain, and the protein participates in colon and neural drug metabolism. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported, but the biological validity and/or full-length nature of some variants have not been determined.[provided by RefSeq, Jun 2010]
Expression
Biased expression in colon (RPKM 13.6), duodenum (RPKM 11.5) and 6 other tissues See more
Orthologs
mouse all
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Genomic context

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See CES3 in Genome Data Viewer
Location:
16q22.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (66961266..66975149)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (72755566..72769449)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (66995169..67009052)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66969029-66969641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:66974461-66974960 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:66975020-66976219 Neighboring gene carboxylesterase 2 Neighboring gene uncharacterized LOC107984881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7573 Neighboring gene MPRA-validated peak2620 silencer Neighboring gene MPRA-validated peak2621 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:66994865-66995366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:66997641-66998558 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:67004920-67006119 Neighboring gene Sharpr-MPRA regulatory region 4953 Neighboring gene Sharpr-MPRA regulatory region 2980 Neighboring gene carboxylesterase 4A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67034909-67035810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67047193-67047694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67047695-67048194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7575 Neighboring gene RNA, 7SL, cytoplasmic 543, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Carboxylesterases expressed in human colon tumor tissue and their role in CPT-11 hydrolysis. Sanghani SP, et al. Clin Cancer Res, 2003 Oct 15. PMID 14581373
  2. Hydrolysis of irinotecan and its oxidative metabolites, 7-ethyl-10-[4-N-(5-aminopentanoic acid)-1-piperidino] carbonyloxycamptothecin and 7-ethyl-10-[4-(1-piperidino)-1-amino]-carbonyloxycamptothecin, by human carboxylesterases CES1A1, CES2, and a newly expressed carboxylesterase isoenzyme, CES3. Sanghani SP, et al. Drug Metab Dispos, 2004 May. PMID 15100172
  3. Identification of a novel intracellular cholesteryl ester hydrolase (carboxylesterase 3) in human macrophages: compensatory increase in its expression after carboxylesterase 1 silencing. Zhao B, et al. Am J Physiol Cell Physiol, 2012 Aug 15. PMID 22700792, Free PMC Article
  4. Human carboxylesterases: an update on CES1, CES2 and CES3. Sanghani SP, et al. Protein Pept Lett, 2009. PMID 19508181
  5. Cloning and nucleotide sequence of a novel, male-predominant carboxylesterase in mouse liver. Aida K, et al. Biochim Biophys Acta, 1993 Jul 18. PMID 7916639

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. This study provides the first evidence of functional compensation whereby increased expression of CES3 restores intracellular cholesteryl ester hydrolytic activity and free cholesterol efflux in CES1-deficient cells.
    Title: Identification of a novel intracellular cholesteryl ester hydrolase (carboxylesterase 3) in human macrophages: compensatory increase in its expression after carboxylesterase 1 silencing.
  2. Studies indicate that CES3 mRNA isoform expression in several tissues, particularly in colon, trachea and in brain.
    Title: Mammalian carboxylesterase 3: comparative genomics and proteomics.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Evaluation of candidate genes for cholinesterase activity in farmworkers exposed to organophosphorus pesticides: association of single nucleotide polymorphisms in BCHE.
  4. CES3 seems to have a lower catalytic efficiency than the other two CESs for selected substrates.
    Title: Human carboxylesterases: an update on CES1, CES2 and CES3.
  5. pharmacogenomic characterization of human carboxylesterase 1A1, 1A2, and 1A3 genes
    Title: Structure and characterization of human carboxylesterase 1A1, 1A2, and 1A3 genes.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ21736

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carboxylesterase activity IEA
Inferred from Electronic Annotation
more info
  
enables carboxylic ester hydrolase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in low-density lipoprotein particle clearance TAS
Traceable Author Statement
more info
  
involved_in xenobiotic metabolic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
carboxylesterase 3
Names
carboxylesterase 3 (brain)
esterase 31
liver carboxylesterase 31 homolog
NP_001172105.1
NP_001172106.1
NP_079198.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001185176.2 → NP_001172105.1  carboxylesterase 3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several 5' exons and has an alternate 5' exon, as compared to variant 1. This results in a downstream AUG start codon, and the resulting isoform (3, also known as isoform e) is shorter at the N-terminus, as compared to isoform 1.
    Source sequence(s)
    AC009084, AK025158, AK025389, BC053670
    Consensus CDS
    CCDS54023.1
    UniProtKB/Swiss-Prot
    Q6UWW8
    Related
    ENSP00000445559.1, ENST00000543856.1
    Conserved Domains (1) summary
    cl21494
    Location:1 → 186
    Abhydrolase; alpha/beta hydrolases

  2. NM_001185177.2 → NP_001172106.1  carboxylesterase 3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001172106.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame small segment in the 3' CDS, as compared to variant 1. The resulting isoform (2, also known as isoform b) lacks an internal three aa, as compared to isoform 1.
    Source sequence(s)
    AK025158, BC053670
    Consensus CDS
    CCDS54022.1
    UniProtKB/TrEMBL
    A0A0C4DFY7
    Related
    ENSP00000377602.1, ENST00000394037.5
    Conserved Domains (1) summary
    pfam00135
    Location:32 → 544
    COesterase; Carboxylesterase family

  3. NM_024922.6 → NP_079198.2  carboxylesterase 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_079198.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longest transcript and encodes the longest isoform (1, also known as isoform a).
    Source sequence(s)
    AK000105, AK025158, DA924627
    Consensus CDS
    CCDS10826.1
    UniProtKB/Swiss-Prot
    B2Z3W9, F5H242, Q6UWW8, Q7Z6J1, Q9H6X7
    Related
    ENSP00000304782.4, ENST00000303334.9
    Conserved Domains (2) summary
    COG0657
    Location:129 → 247
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    pfam00135
    Location:32 → 547
    COesterase; Carboxylesterase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    66961266..66975149
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    72755566..72769449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_012122.1: Suppressed sequence

    Description
    NM_012122.1: This RefSeq was permanently suppressed because it was based on a sequence from a different organism.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UWW8.1 GenPept UniProtKB/Swiss-Prot:Q6UWW8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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