BCHE butyrylcholinesterase [Homo sapiens (human)] - Gene

Summary

Go to the top of the page Help

Official Symbol: BCHEprovided by HGNC
Official Full Name: butyrylcholinesteraseprovided by HGNC
Primary source: 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
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]

Genomic context

Go to the top of the page Help

Location :: 3q26.1-q26.2

Sequence :: Chromosome: 3; NC_000003.11 (165490692..165555253, complement)

See BCHE in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions What's a GeneRIF?

reaction mechanisms and free energy profiles for spontaneous reactivation of wild-type BChE and its G117H mutant phosphorylated by sarin have been explored by performing first-principles quantum mechanical/molecular mechanical free energy calculations; the role of the G117H mutation on the activity has been elucidated
Title: Why does the G117H mutation considerably improve the activity of human butyrylcholinesterase against sarin? Insights from quantum mechanical/molecular mechanical free energy calculations.
peripheral site of human butyrylcholinesterase
Title: Probing the peripheral site of human butyrylcholinesterase.
AChE and BChE activities were decreased in prostate cancer patients
Title: Cholinesterase activities and biochemical determinations in patients with prostate cancer: influence of Gleason score, treatment and bone metastasis.
BCHE may be involved in the pathogenesis of hepatitis C-related fibrosis among injection drug users.
Title: Laser captured hepatocytes show association of butyrylcholinesterase gene loss and fibrosis progression in hepatitis C-infected drug users.
In vitro analysis indicated that high ApoE protein levels were related to an increased pool of dormant BuChE molecules with an abnormally high intrinsic catalytic rate in cerebrospinal fluid, which is "turned on" by excess amyloid beta peptides
Title: Differential levels of apolipoprotein E and butyrylcholinesterase show strong association with pathological signs of Alzheimer's disease in the brain in vivo.
Data conclude that variation in BCHE activity is due to multiple variants across the spectrum from uncommon/large effect to common/small effect, and partly results from (rather than causes) metabolic abnormalities.
Title: GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors.
ApoE epsilon4 might impart its pathological role through high protein expression and interaction with butyrylcholinesterase, which in turn might modulate central cholinergic activity and amyloidbeta load in the brain.
Title: The apolipoprotein E ε4 allele plays pathological roles in AD through high protein expression and interaction with butyrylcholinesterase.
Serum ChE might be a predictive marker for the prognosis of aged patients with systemic inflammatory response syndrome, with low serum ChE levels indicating poor prognosis.
Title: Predictive value of serum cholinesterase for the prognosis of aged patients with systemic inflammatory response syndrome.
Compared with controls, bipolar patients had a significantly higher pseudocholinesterase activity.
Title: [Pseudocholinesterase activity in type 1 bipolar patients].
In moderate-to-severe AD (MMSE </=15), presence of the BCHE-K variant was associated with late response to cholinesterase inhibitor treatment
Title: Effect of apolipoprotein E and butyrylcholinesterase genotypes on cognitive response to cholinesterase inhibitor treatment at different stages of Alzheimer's disease.

Submit: New GeneRIF Correction See all (117)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI 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.

Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors.

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Source	Pubs	Description
NP_000046.1			BIND	PubMed	PChE interacts with Cocaine.
NP_000046.1			BIND	PubMed	PChE interacts with 6-MAM.
NP_000046.1			BIND	PubMed	PChE interacts with Heroin.
P06276	P06276	BCHE	HPRD	PubMed
P06276	Q9Y215	COLQ	HPRD	PubMed
BioGRID:107064	BioGRID:107064	BCHE	BioGRID	PubMed	Two-hybrid
BioGRID:107064	BioGRID:113897	COLQ	BioGRID	PubMed	Co-purification

Pathways from BioSystems

Go to the top of the page Help

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 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.
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...
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...

General gene information

Go to the top of the page Help

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

Genotypes

See BCHE SNP Geneview Report
See BCHE SNP Genotype Report
See BCHE SNP Variation Viewer Report

Homology

Homologs of the BCHE gene: The BCHE gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, M.oryzae, and N.crassa.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
acetylcholinesterase activity	IBA Inferred from Biological aspect of Ancestor more info
acetylcholinesterase activity	ISS Inferred from Sequence or Structural Similarity more info
beta-amyloid binding	NAS Non-traceable Author Statement more info	PubMed
carboxylesterase activity	IBA Inferred from Biological aspect of Ancestor more info
catalytic activity	NAS Non-traceable Author Statement more info	PubMed
cholinesterase activity	IDA Inferred from Direct Assay more info	PubMed
cholinesterase activity	NAS Non-traceable Author Statement more info
enzyme binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
cellular protein metabolic process	TAS Traceable Author Statement more info
choline metabolic process	IBA Inferred from Biological aspect of Ancestor more info
cocaine metabolic process	TAS Traceable Author Statement more info	PubMed
synaptic transmission, cholinergic	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
endoplasmic reticulum lumen	IBA Inferred from Biological aspect of Ancestor more info
extracellular region	NAS Non-traceable Author Statement more info	PubMed
extracellular region	TAS Traceable Author Statement more info
extracellular space	IBA Inferred from Biological aspect of Ancestor more info
membrane	IEA Inferred from Electronic Annotation more info
nuclear envelope lumen	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: cholinesterase

Names: cholinesterase; cholinesterase 1; choline esterase II; pseudocholinesterase; butyrylcholine esterase; acylcholine acylhydrolase

NP_000046.1

EC 3.1.1.8

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

5001..69562

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000055.2 → NP_000046.1 cholinesterase precursor

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

cd00312
Location:33 – 540
Blast Score: 1377

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 ...

pfam08674
Location:565 – 602
Blast Score: 177

AChE_tetra; Acetylcholinesterase tetramerisation domain

pfam00135
Location:33 – 550
Blast Score: 1591

COesterase; Carboxylesterase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p10 Primary Assembly

Range

165490692..165555253, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

162859251..162924002, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018914.1 Alternate CHM1_1.0

Range

165353682..165418339, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01058744.1 (21493..61335)	None
genomic	ABBA01058745.1	None
genomic	AC009811.14 (42275..106832)	None
genomic	AMYH01013633.1 (27113..91770)	None
genomic	CH471052.2	EAW78591.1
		EAW78592.1
		EAW78593.1
		EAW78594.1
genomic	M32391.1	AAA99296.1
mRNA	AK292063.1	BAF84752.1
mRNA	BC008396.1	AAH08396.1
mRNA	BC018141.1	AAH18141.1
mRNA	BF056152.1	None
mRNA	DA426203.1	None
mRNA	M16474.1	AAA52015.1
mRNA	M16541.1	AAA98113.1
other-genetic	DQ891041.2	ABM81967.1
other-genetic	DQ894220.2	ABM85146.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P06276.1	GenPept	UniProtKB/Swiss-Prot:P06276

Additional links

Go to the top of the page Help

Additional Links

Epigenomics
MIM 177400
PharmGKB PA25294
BCHE homepage - Mendelian genes BCHE
ESTHER www server: ESTerases and alpha/beta Hydrolase Enzymes and Relatives bioweb.ensam.inra.fr/esther
UCSC UCSC
UniGene Hs.420483