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    BCHE butyrylcholinesterase [ Homo sapiens (human) ]

    Gene ID: 590, updated on 6-Jun-2017
    Official Symbol
    BCHEprovided by HGNC
    Official Full Name
    butyrylcholinesteraseprovided by HGNC
    Primary source
    HGNC:HGNC:983
    See related
    Ensembl:ENSG00000114200 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
    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]
    Orthologs
    Location:
    3q26.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (165772904..165837467, 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 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 10 Neighboring gene mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 17

    • 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 Jun 15 11:32:44 2016

    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
    • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
      Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
    • Irinotecan Pathway, organism-specific biosystem (from WikiPathways)
      Irinotecan Pathway, organism-specific biosystemThis pathway shows the biotransformation of the chemotherapy prodrug irinotecan to form the active metabolite SN-38, an inhibitor of DNA topoisomerase I. SN-38 is primarily metabolized to the inactiv...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Clearance In The Synaptic Cleft, organism-specific biosystem (from REACTOME)
      Neurotransmitter Clearance In The Synaptic Cleft, organism-specific biosystemNeurotransmitter released in the synaptic cleft binds to specific receptors on the post-synaptic cell and the excess of the neurotransmitter is cleared to prevent over activation of the post-synapti...
    • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
      Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
    • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
      Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
    • Synthesis of PC, organism-specific biosystem (from REACTOME)
      Synthesis of PC, organism-specific biosystemDe novo (Kennedy pathway) synthesis of phosphatidylcholine (PC) involves phosphorylation of choline (Cho) to phosphocholine (PCho) followed by condensing with cytidine triphosphate (CTP) to form CDP-...
    • Synthesis, secretion, and deacylation of Ghrelin, organism-specific biosystem (from REACTOME)
      Synthesis, secretion, and deacylation of Ghrelin, organism-specific biosystemGhrelin is a peptide hormone of 28 amino acid residues which is acylated at the serine-3 of the mature peptide. Ghrelin is synthesized in several tissues: X/A-like cells of the gastric mucosa (the ma...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
    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
     
    amyloid-beta 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 
    hydrolase activity, acting on ester bonds TAS
    Traceable Author Statement
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    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
     
    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
    XP_016862456.1

    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
      4994..69563
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000055.3NP_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, OTTHUMP00000212636, ENST00000264381.7, OTTHUMT00000350254
      Conserved Domains (3) summary
      COG0657
      Location:125250
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:26550
      COesterase; Carboxylesterase family
      pfam08674
      Location:565599
      AChE_tetra; Acetylcholinesterase tetramerization domain

    RNA

    1. NR_137635.1 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_137636.1 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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      165772904..165837467 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006967.1XP_016862456.1  cholinesterase isoform X1

      UniProtKB/TrEMBL
      D3DNN4
      Conserved Domains (3) summary
      COG0657
      Location:166291
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:67591
      COesterase; Carboxylesterase family
      pfam08674
      Location:606640
      AChE_tetra; Acetylcholinesterase tetramerization domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

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