BCHE butyrylcholinesterase [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 3q26.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (165772904..165837423, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (168555830..168620600, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (165490692..165555211, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Onset of Alzheimer disease in apolipoprotein varepsilon4 carriers is earlier in butyrylcholinesterase K variant carriers.
Title: Onset of Alzheimer disease in apolipoprotein ɛ4 carriers is earlier in butyrylcholinesterase K variant carriers.
Butyrylcholinesterase in lipid metabolism: A new outlook.
Title: Butyrylcholinesterase in lipid metabolism: A new outlook.
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.
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.
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.
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.
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.
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.
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.
Novel activity of human BChE: Lipid hydrolysis.
Title: Novel activity of human BChE: Lipid hydrolysis.

Submit: New GeneRIF Correction See all GeneRIFs (204)

Phenotypes

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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	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:632859 (e-PCR)
- UniSTS:158497

GDB:632866 (e-PCR)
- UniSTS:158499

GDB:177651 (e-PCR)
- UniSTS:154944

GDB:177652 (e-PCR)
- UniSTS:154945

G64459 (e-PCR)
- UniSTS:163654

BCHE (e-PCR)
- UniSTS:479822

GDB:363550 (e-PCR)
- UniSTS:156772

GDB:363553 (e-PCR)
- UniSTS:156773

STS-M16541 (e-PCR)
- UniSTS:63865

GDB:580568 (e-PCR)
- UniSTS:157830

GDB:580574 (e-PCR)
- UniSTS:157831

GDB:580578 (e-PCR)
- UniSTS:157832

GDB:580581 (e-PCR)
- UniSTS:157833

WI-18944 (e-PCR)
- UniSTS:23184

D3S3886 (e-PCR)
- UniSTS:63407

GDB:177095 (e-PCR)
- UniSTS:154831

BCHE (e-PCR)
- UniSTS:266455

SHGC-105146 (e-PCR)
- UniSTS:169202

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 more info	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

EC 3.1.1.8

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

NG_009031.1 RefSeqGene

Range

5043..69562

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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
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