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BCHE butyrylcholinesterase [ Homo sapiens (human) ]

Gene ID: 590, updated on 22-Aug-2020

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

Genomic context

See BCHE in Genome Data Viewer
Location:
3q26.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (165772904..165837423, 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-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
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 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 HDA 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
 

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)

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 109.20200815

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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