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BCHE butyrylcholinesterase [ Homo sapiens (human) ]

Gene ID: 590, updated on 10-Mar-2024

Summary

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Official Symbol
BCHEprovided by HGNC
Official Full Name
butyrylcholinesteraseprovided by HGNC
Primary source
HGNC:HGNC:983
See related
Ensembl:ENSG00000114200 MIM:177400; AllianceGenome:HGNC:983
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

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See BCHE in Genome Data Viewer
Location:
3q26.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (165772904..165837423, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (168555830..168620600, complement)
105.20220307 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 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:165177431-165178630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:165290391-165290985 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:165431125-165431624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:165438516-165439016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:165439017-165439517 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20770 Neighboring gene Sharpr-MPRA regulatory region 7963 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:165592326-165593525 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:165702256-165702834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:165743989-165744490 Neighboring gene uncharacterized LOC124909497 Neighboring gene MT-ND4L pseudogene 10 Neighboring gene MT-ND4 pseudogene 17

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. Serum butyrylcholinesterase as a marker of COVID-19 mortality: Results of the monocentric prospective observational study. Markuskova L, et al. Chem Biol Interact, 2023 Aug 25. PMID 37209860, Free PMC Article
  2. Dysregulation of butyrylcholinesterase, BCHE gene SNP rs1803274, and pro-inflammatory cytokines in occupational workers. Khan SA, et al. Environ Res, 2023 Mar 1. PMID 36592809
  3. Novel activity of human BChE: Lipid hydrolysis. Gok M, et al. Biochimie, 2023 Jan. PMID 36126749
  4. BCHE as a Prognostic Biomarker in Endometrial Cancer and Its Correlation with Immunity. Liu J, et al. J Immunol Res, 2022. PMID 35915658, Free PMC Article
  5. Butyrylcholinesterase level as an independent prognostic factor for overall survival in patients on maintenance hemodialysis: a single-center retrospective study. Fukushi K, et al. Clin Exp Nephrol, 2022 Feb. PMID 34581897

See all (267) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Butyrylcholinesterase activity in patients with postoperative delirium after cardiothoracic surgery or percutaneous valve replacement- an observational interdisciplinary cohort study.
    Title: Butyrylcholinesterase activity in patients with postoperative delirium after cardiothoracic surgery or percutaneous valve replacement- an observational interdisciplinary cohort study.
  2. Progressions of the correlation between lipid metabolism and immune infiltration characteristics in gastric cancer and identification of BCHE as a potential biomarker.
    Title: Progressions of the correlation between lipid metabolism and immune infiltration characteristics in gastric cancer and identification of BCHE as a potential biomarker.
  3. Human Butyrylcholinesterase Mutants for (-)-Cocaine Hydrolysis: A Correlation Relationship between Catalytic Efficiency and Total Hydrogen Bonding Energy with an Oxyanion Hole.
    Title: Human Butyrylcholinesterase Mutants for (-)-Cocaine Hydrolysis: A Correlation Relationship between Catalytic Efficiency and Total Hydrogen Bonding Energy with an Oxyanion Hole.
  4. Butyrylcholinesterase signal sequence self-aggregates and enhances amyloid fibril formation in vitro.
    Title: Butyrylcholinesterase signal sequence self-aggregates and enhances amyloid fibril formation in vitro.
  5. Improving the Efficiency of Precise Genome Editing with CRISPR/Cas9 to Generate Goats Overexpressing Human Butyrylcholinesterase.
    Title: Improving the Efficiency of Precise Genome Editing with CRISPR/Cas9 to Generate Goats Overexpressing Human Butyrylcholinesterase.
  6. Serum butyrylcholinesterase as a marker of COVID-19 mortality: Results of the monocentric prospective observational study.
    Title: Serum butyrylcholinesterase as a marker of COVID-19 mortality: Results of the monocentric prospective observational study.
  7. Dysregulation of butyrylcholinesterase, BCHE gene SNP rs1803274, and pro-inflammatory cytokines in occupational workers.
    Title: Dysregulation of butyrylcholinesterase, BCHE gene SNP rs1803274, and pro-inflammatory cytokines in occupational workers.
  8. Novel activity of human BChE: Lipid hydrolysis.
    Title: Novel activity of human BChE: Lipid hydrolysis.
  9. BCHE as a Prognostic Biomarker in Endometrial Cancer and Its Correlation with Immunity.
    Title: BCHE as a Prognostic Biomarker in Endometrial Cancer and Its Correlation with Immunity.
  10. Butyrylcholinesterase level as an independent prognostic factor for overall survival in patients on maintenance hemodialysis: a single-center retrospective study.
    Title: Butyrylcholinesterase level as an independent prognostic factor for overall survival in patients on maintenance hemodialysis: a single-center retrospective study.
Submit: New GeneRIF Correction See all GeneRIFs (202)

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

Associated conditions

Description Tests
Deficiency of butyrylcholinesterase
MedGen: C1283400 OMIM: 617936 GeneReviews: Not available
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EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acetylcholinesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
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 acetylcholine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in choline metabolic process IBA
Inferred from Biological aspect of Ancestor
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 peptide hormone processing TAS
Traceable Author Statement
more info
  
involved_in response to alkaloid 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
  
involved_in xenobiotic metabolic process TAS
Traceable Author Statement
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
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear envelope lumen IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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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_000055.4 → NP_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
    A8K7P8, P06276
    UniProtKB/TrEMBL
    A0A024CIM4
    Related
    ENSP00000264381.3, ENST00000264381.8
    Conserved Domains (2) summary
    pfam00135
    Location:30 → 550
    COesterase; Carboxylesterase family
    pfam08674
    Location:565 → 599
    AChE_tetra; Acetylcholinesterase tetramerisation domain

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: 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_000003.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    168555830..168620600 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P06276.1 GenPept UniProtKB/Swiss-Prot:P06276

Gene LinkOut

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