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    CES1P1 carboxylesterase 1 pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 51716, updated on 10-Oct-2023

    Summary

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    Official Symbol
    CES1P1provided by HGNC
    Official Full Name
    carboxylesterase 1 pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:18546
    See related
    Ensembl:ENSG00000291109 AllianceGenome:HGNC:18546
    Gene type
    pseudo
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CES4; CESR; PCE-3; CES1A2; CES1A3
    Summary
    This gene is a member of the carboxylesterase (CES) gene 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 does not encode a protein and the sequence is similar to the CES1 gene, so represents a pseudogene of the CES1 gene. [provided by RefSeq, Jun 2010]
    Expression
    Biased expression in liver (RPKM 46.1), gall bladder (RPKM 13.1) and 4 other tissues See more
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    Genomic context

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    Location:
    16q12.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (55760599..55774926)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (61558854..61589126)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (55794511..55808838)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371280 Neighboring gene carboxylesterase 1 pseudogene 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:55786457-55787656 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:55813055-55814254 Neighboring gene carboxylesterase 1 Neighboring gene carboxylesterase 5A Neighboring gene NANOG hESC enhancer GRCh37_chr16:55972010-55972511 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43479 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43482

    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
    • 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. Mutation-sensitive molecular switch method to detect CES1A2 mutation in the Chinese Han and Yao populations. Ding XL, et al. Genet Test Mol Biomarkers, 2011 Sep. PMID 21510813
    2. Regulatory effects of genomic translocations at the human carboxylesterase-1 (CES1) gene locus. Sanford JC, et al. Pharmacogenet Genomics, 2016 May. PMID 26871237, Free PMC Article
    3. The effects of CES1A2 A(-816)C and CYP2C19 loss-of-function polymorphisms on clopidogrel response variability among Chinese patients with coronary heart disease. Xie C, et al. Pharmacogenet Genomics, 2014 Apr. PMID 24535487
    4. Human carboxylesterase 1A2 expressed from carboxylesterase 1A1 and 1A2 genes is a potent predictor of CPT-11 cytotoxicity in vitro. Tanimoto K, et al. Pharmacogenet Genomics, 2007 Jan. PMID 17264798
    5. Genetic variation in carboxylesterase genes and susceptibility to isoniazid-induced hepatotoxicity. Yamada S, et al. Pharmacogenomics J, 2010 Dec. PMID 20195289

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Study confirms previous reports of the CES1P1-CES1 translocation generating the CES1VAR allele with 11 SNPs in the 5'UTR, exon 1, and intron 1 derived from the CES1P1 sequence.
      Title: Regulatory effects of genomic translocations at the human carboxylesterase-1 (CES1) gene locus.
    2. Results show that CES1A2 A(-816C and the CYP2C19 loss-of-function alleles were associated with attenuated platelet reactivity to clopidogrel.
      Title: The effects of CES1A2 A(-816)C and CYP2C19 loss-of-function polymorphisms on clopidogrel response variability among Chinese patients with coronary heart disease.
    3. There is a marked difference in mutant C allele between Chinese Han and Yao populations, suggesting individual and ethnic differences of CES1 drug metabolism between these two populations.
      Title: Mutation-sensitive molecular switch method to detect CES1A2 mutation in the Chinese Han and Yao populations.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variation in carboxylesterase genes and susceptibility to isoniazid-induced hepatotoxicity.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • carboxylesterase 4, pseudogene
    • carboxylesterase-related protein

    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.

    RNA

    1. NR_003276.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC136621, AC147362
      Related
      ENST00000571348.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      55760599..55774926
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      61558854..61589126
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007086384.1 RNA Sequence

    2. XR_007086386.1 RNA Sequence

    3. XR_007086385.1 RNA Sequence

    4. XR_007086387.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_016280.1: Suppressed sequence

      Description
      NM_016280.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version

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