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    CES3 carboxylesterase 3 [ Homo sapiens (human) ]

    Gene ID: 23491, updated on 2-Nov-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
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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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    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 Variation Viewer (GRCh37.p13)

    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

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