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    BCHE butyrylcholinesterase [ Homo sapiens (human) ]

    Gene ID: 590, updated on 8-Jul-2021

    Summary

    Official Symbol
    BCHEprovided by HGNC
    Official Full Name
    butyrylcholinesteraseprovided by HGNC
    Primary source
    HGNC:HGNC:983
    See related
    Ensembl:ENSG00000114200 MIM:177400
    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
    E1; CHE1; CHE2; BCHED
    Summary
    This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]
    Expression
    Biased expression in liver (RPKM 60.4), brain (RPKM 16.9) and 12 other tissues See more
    Orthologs
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    Genomic context

    See BCHE in Genome Data Viewer
    Location:
    3q26.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (165772904..165837423, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (165490692..165555211, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1322 Neighboring gene SLIT and NTRK like family member 3 Neighboring gene Sharpr-MPRA regulatory region 7963 Neighboring gene MT-ND4L pseudogene 10 Neighboring gene MT-ND4 pseudogene 17

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
    GeneReviews: Not available
    Aspirin hydrolysis in plasma is a variable function of butyrylcholinesterase and platelet-activating factor acetylhydrolase 1b2 (PAFAH1b2).
    GeneReviews: Not available
    Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
    GeneReviews: Not available
    Deficiency of butyrylcholine esterase
    MedGen: C1283400 OMIM: 617936 GeneReviews: Not available
    Compare labs
    Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
    GeneReviews: Not available
    GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetylcholinesterase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables amyloid-beta binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables catalytic activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables choline binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cholinesterase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables enzyme binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables hydrolase activity, acting on ester bonds TAS
    Traceable Author Statement
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in choline metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cocaine metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in learning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuroblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to alkaloid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to folic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to glucocorticoid IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    located_in endoplasmic reticulum lumen IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear envelope lumen IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cholinesterase
    Names
    acylcholine acylhydrolase
    butyrylcholine esterase
    choline esterase II
    cholinesterase (serum) 2
    cholinesterase 1
    pseudocholinesterase
    NP_000046.1

    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.

    Genomic

    1. NG_009031.1 RefSeqGene

      Range
      5043..69562
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000055.4NP_000046.1  cholinesterase precursor

      See identical proteins and their annotated locations for NP_000046.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the protein.
      Source sequence(s)
      AL706210, BC018141, BF056152, BG460576
      Consensus CDS
      CCDS3198.1
      UniProtKB/Swiss-Prot
      P06276
      Related
      ENSP00000264381.3, ENST00000264381.8
      Conserved Domains (2) summary
      pfam08674
      Location:565599
      AChE_tetra; Acetylcholinesterase tetramerisation domain
      pfam00135
      Location:30550
      COesterase; Carboxylesterase family

    RNA

    1. NR_137635.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL706210, BC008396, BF056152, BG460576
    2. NR_137636.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL706210, BF056152, BG460576, CD014089
      Related
      ENST00000497011.5

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      165772904..165837423 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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