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    BCHE butyrylcholinesterase [ Homo sapiens (human) ]

    Gene ID: 590, updated on 30-Jun-2015
    Official Symbol
    BCHEprovided by HGNC
    Official Full Name
    butyrylcholinesteraseprovided by HGNC
    Primary source
    HGNC:HGNC:983
    See related
    Ensembl:ENSG00000114200; HPRD:01519; MIM:177400; Vega:OTTHUMG00000158131
    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
    Summary
    Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. [provided by RefSeq, Jul 2008]
    Orthologs
    See BCHE in Epigenomics, MapViewer
    Location:
    3q26.1-q26.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (165772904..165837472, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (165490692..165555260, 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 MT-ND4 pseudogene 17 Neighboring gene MT-ND3 pseudogene 7

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
    NHGRI GWA Catalog
    Aspirin hydrolysis in plasma is a variable function of butyrylcholinesterase and platelet-activating factor acetylhydrolase 1b2 (PAFAH1b2).
    NHGRI GWA Catalog
    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.
    NHGRI GWA Catalog
    Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
    NHGRI GWA Catalog
    GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acetylcholinesterase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    beta-amyloid binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    catalytic activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    choline binding IEA
    Inferred from Electronic Annotation
    more info
     
    cholinesterase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enzyme binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acetylcholine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    choline metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cocaine metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    learning IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    neuroblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    response to alkaloid IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to folic acid IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucocorticoid IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    blood microparticle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum lumen IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear envelope lumen IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    cholinesterase
    Names
    acylcholine acylhydrolase
    butyrylcholine esterase
    choline esterase II
    cholinesterase (serum) 2
    cholinesterase 1
    pseudocholinesterase
    NP_000046.1

    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
      5001..69562
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000055.2NP_000046.1  cholinesterase precursor

      See identical proteins and their annotated locations for NP_000046.1

      Status: REVIEWED

      Source sequence(s)
      BC018141, BF056152, DA426203
      Consensus CDS
      CCDS3198.1
      UniProtKB/Swiss-Prot
      P06276
      Related
      ENSP00000264381, OTTHUMP00000212636, ENST00000264381, OTTHUMT00000350254
      Conserved Domains (3) summary
      pfam08674
      Location:565602
      AChE_tetra; Acetylcholinesterase tetramerization domain
      COG0657
      Location:125250
      Aes; Esterase/lipase [Lipid metabolism]
      cd00312
      Location:33540
      Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

      Range
      165772904..165837472
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005247685.1XP_005247742.1  

      See identical proteins and their annotated locations for XP_005247742.1

      UniProtKB/TrEMBL
      D3DNN4
      Conserved Domains (3) summary
      pfam08674
      Location:606643
      AChE_tetra; Acetylcholinesterase tetramerization domain
      COG0657
      Location:166291
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      cd00312
      Location:74581
      Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      165453437..165518145
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)