Bche butyrylcholinesterase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bcheprovided by MGI
Official Full Name: butyrylcholinesteraseprovided by MGI
Primary source: MGI:MGI:894278
See related: Ensembl:ENSMUSG00000027792 AllianceGenome:MGI:894278
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: C730038G20Rik
Summary: Enables acetylcholinesterase activity. Predicted to be involved in several processes, including acetylcholine catabolic process; neuroblast differentiation; and response to folic acid. Located in endoplasmic reticulum and nuclear envelope lumen. Is expressed in several structures, including adrenal gland; alimentary system; ear; liver; and nervous system. Human ortholog(s) of this gene implicated in Alzheimer's disease; coronary artery disease (multiple); epilepsy; and inherited metabolic disorder (multiple). Orthologous to human BCHE (butyrylcholinesterase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in subcutaneous fat pad adult (RPKM 7.4), liver E18 (RPKM 6.0) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 E3; 3 33.61 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (73543138..73615767, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (73635805..73708436, complement)

Chromosome 3 - NC_000069.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BChE strongly affects fat metabolism, has an important impact on fat accumulation and may be a promising tool for combating obesity.
Title: Butyrylcholinesterase Deficiency Promotes Adipose Tissue Growth and Hepatic Lipid Accumulation in Male Mice on High-Fat Diet.
the absence of BChE leads to diminished fibrillar Abeta deposition in amygdala, hippocampal formation, thalamus and basal ganglia.
Title: Reduced fibrillar β-amyloid in subcortical structures in a butyrylcholinesterase-knockout Alzheimer disease mouse model.
It was concluded that in adult murine bone the role of BChE is limited to bone specific changes in microarchitecture and to an increase in relative number of bone resorbing osteoclasts.
Title: Bone status of adult female butyrylcholinesterase gene-deficient mice.
Mice that had undergone gene transfer with mouse CocH (mCocH) showed no place preference or aversion after repeated treatments with a near-lethal 80 mg/kg cocaine dose.
Title: Reward and Toxicity of Cocaine Metabolites Generated by Cocaine Hydrolase.
we conclude that toxoplasmosis reduces BChE activity in mice, and this alteration is probably related to the liver damage caused by the parasitism
Title: Relationship between butyrylcholinesterase activity and liver injury in mice acute infected with Toxoplasma gondii.
Ex vivo autoradiograms, after intravenous injection with a BuChE radioligand, demonstrate increased accumulation of radioactivity especially in cortical regions in the AD mouse.
Title: Butyrylcholinesterase radioligands to image Alzheimer's disease brain.
For metacarb and isocarb, inhibition of BChE w.t. was 260 and 35 times, respectively, faster than inhibition of AChE w.t. For four mutants inhibition was faster than for AChE w.t. but none reached the inhibition rate of BChE.
Title: Peripheral site and acyl pocket define selective inhibition of mouse butyrylcholinesterase by two biscarbamates.
The localization of BChE in the secondary folds of the neuromuscular junction suggests that this enzyme is not a strict surrogate of AChE and that the two enzymes have two different roles.
Title: Localization of butyrylcholinesterase at the neuromuscular junction of normal and acetylcholinesterase knockout mice.
The effects of porphyrinogenic drugs on the brain cholinergic system (Ache, Bche, and Chrm1 levels in various regions of the brain) were examined to establish a mechanism for neurological syndrome displayed in acute porphyrias.
Title: The effects of some porphyrinogenic drugs on the brain cholinergic system.
The BChE knockout mouse will allow us to test the hypothesis that the function of BChE is to detoxify poisons and will allow testing the role of BChE in other physiological functions.
Title: Production of the butyrylcholinesterase knockout mouse.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Bche (e-PCR), detects polymorphism
- UniSTS:546683

RH127260 (e-PCR)
- UniSTS:209804

AW554002 (e-PCR)
- UniSTS:207510

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acetylcholinesterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylcholinesterase activity	IDA Inferred from Direct Assay more info	PubMed
enables choline binding	IEA Inferred from Electronic Annotation more info
enables choline binding	ISO Inferred from Sequence Orthology more info
enables cholinesterase activity	ISO Inferred from Sequence Orthology more info
enables cholinesterase activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info

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 choline metabolic process	IEA Inferred from Electronic Annotation more info
involved_in choline metabolic process	ISO Inferred from Sequence Orthology more info
involved_in learning	IEA Inferred from Electronic Annotation more info
involved_in learning	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of synaptic transmission	ISO Inferred from Sequence Orthology more info
involved_in neuroblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in neuroblast differentiation	ISO Inferred from Sequence Orthology more info
involved_in response to alkaloid	IEA Inferred from Electronic Annotation more info
involved_in response to alkaloid	ISO Inferred from Sequence Orthology more info
involved_in response to folic acid	IEA Inferred from Electronic Annotation more info
involved_in response to folic acid	ISO Inferred from Sequence Orthology more info
involved_in response to glucocorticoid	IEA Inferred from Electronic Annotation more info
involved_in response to glucocorticoid	ISO Inferred from Sequence Orthology more info
involved_in response to nutrient	ISO Inferred from Sequence Orthology more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum lumen	ISO Inferred from Sequence Orthology more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope lumen	IDA Inferred from Direct Assay more info	PubMed
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; pseudocholinesterase

NP_033868.3

EC 3.1.1.8

XP_011238302.1

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.

mRNA and Protein(s)

NM_001428371.1 → NP_001415300.1 cholinesterase isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AC099722

UniProtKB/TrEMBL

Q499C7
NM_009738.4 → NP_033868.3 cholinesterase isoform 1 precursor

See identical proteins and their annotated locations for NP_033868.3

Status: VALIDATED

Source sequence(s)

AC099722

Consensus CDS

CCDS17411.1

UniProtKB/Swiss-Prot

Q03311, Q543J3

UniProtKB/TrEMBL

Q499C7

Related

ENSMUSP00000029367.6, ENSMUST00000029367.6

Conserved Domains (3) summary

COG0657
Location:126 → 278

Aes; Acetyl esterase/lipase [Lipid transport and metabolism]

pfam00135
Location:27 → 551

COesterase; Carboxylesterase family

pfam08674
Location:566 → 600

AChE_tetra; Acetylcholinesterase tetramerization domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

73543138..73615767 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011240000.3 → XP_011238302.1 cholinesterase isoform X1

Conserved Domains (2) summary

pfam00135
Location:46 → 563

COesterase; Carboxylesterase family

pfam08674
Location:578 → 612

AChE_tetra; Acetylcholinesterase tetramerisation domain