Ache acetylcholinesterase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Acheprovided by MGI
Official Full Name: acetylcholinesteraseprovided by MGI
Primary source: MGI:MGI:87876
See related: Ensembl:ENSMUSG00000023328 AllianceGenome:MGI:87876
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
Summary: Enables several functions, including acetylcholinesterase activity; identical protein binding activity; and protein self-association. Involved in positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including acetylcholine catabolic process; acetylcholine receptor signaling pathway; and regulation of receptor recycling. Located in several cellular components, including basement membrane; cell surface; and neuromuscular junction. Is expressed in several structures, including alimentary system; genitourinary system; musculature; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Alzheimer's disease; epilepsy; and myasthenia gravis. Orthologous to human ACHE (acetylcholinesterase (Cartwright blood group)). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in cerebellum adult (RPKM 25.6), thymus adult (RPKM 23.5) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 G2; 5 76.32 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (137286516..137292728)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (137288247..137294466)

Chromosome 5 - NC_000071.7 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?

Defensive proclivity of bacoside A and bromelain against oxidative stress and AChE gene expression induced by dichlorvos in the brain of Mus musculus.
Title: Defensive proclivity of bacoside A and bromelain against oxidative stress and AChE gene expression induced by dichlorvos in the brain of Mus musculus.
Neurological sequel of chronic kidney disease: From diminished Acetylcholinesterase activity to mitochondrial dysfunctions, oxidative stress and inflammation in mice brain.
Title: Neurological sequel of chronic kidney disease: From diminished Acetylcholinesterase activity to mitochondrial dysfunctions, oxidative stress and inflammation in mice brain.
Loss of acetylcholinesterase activity with mitochondrial dysfunction is associated with hypercholesterolemia.
Title: Global loss of acetylcholinesterase activity with mitochondrial complexes inhibition and inflammation in brain of hypercholesterolemic mice.
In melanoma, MITF overexpression induced ACHE transcription, and mutation of an E-box site in human ACHE promoter blocked this induction
Title: Microphthalmia-associated transcription factor up-regulates acetylcholinesterase expression during melanogenesis of murine melanoma cells.
Results indicate that direct inhibition of acetylcholinesterase activity and up-regulation of m1 muscarinic acetylcholine receptor expression in the striatum might contribute to the beneficial effects of alpha-asarone on locomotor hyperactivity in Fmr1 knock out mice.
Title: Alpha-asarone improves striatal cholinergic function and locomotor hyperactivity in Fmr1 knockout mice.
Data show that 1-month of oral treatment with beta-asarone reduces AChE, Abeta42, APP and Beclin-1 levels and alleviates some behavioral impairments by inhibiting the autophagy via regulating the PI3K/Akt/mTOR pathway in APP/PS1 transgenic mice. The results further support the exploration of beta-asarone as a possible disease-modifying agent for the treatment of Alzheimer's disease.
Title: β-asarone improves learning and memory and reduces Acetyl Cholinesterase and Beta-amyloid 42 levels in APP/PS1 transgenic mice by regulating Beclin-1-dependent autophagy.
Results indicate that adult onset hypothyroidism caused significant memory impairment and increased fear/anxiety. Moreover, the activity of both isoforms of AChE was reduced in all brain regions examined in a brain region- and isoform-specific manner.
Title: Effect of adult onset hypothyroidism on behavioral parameters and acetylcholinesterase isoforms activity in specific brain regions of male mice.
Unusually high AChE activity may be an effect marker of exposure to ethanol. The relationship between AChE and apoptosis might represent a novel mechanism of ethanol-associated neuronal injury.
Title: Study of acetylcholinesterase activity and apoptosis in SH-SY5Y cells and mice exposed to ethanol.
Findings suggested the role of DNA methylation on acetylcholinesterase transcriptional regulation and provided insight in elucidating the DNA methylation-mediated regulatory mechanism on acetylcholinesterase expression during muscle differentiation.
Title: Transcriptional activity of acetylcholinesterase gene is regulated by DNA methylation during C2C12 myogenesis.
Nerolidol-loaded nanospheres reverse memory impairment and to prevent increased ROS and TBARS levels due to amelioration of Na(+), K(+)-ATPase and AChE activities and to activation of the antioxidant enzymes, respectively.
Title: Nerolidol-loaded nanospheres prevent behavioral impairment via ameliorating Na(+), K(+)-ATPase and AChE activities as well as reducing oxidative stress in the brain of Trypanosoma evansi-infected mice.

Submit: New GeneRIF Correction See all GeneRIFs (86)

Variation

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Alleles

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

Targeted (8) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12Wox27 (e-PCR)
- UniSTS:518978

UniSTS:463940 (e-PCR)
- UniSTS:463940

Ache (e-PCR), detects polymorphism
- UniSTS:463940

Ache (e-PCR), detects polymorphism
- UniSTS:527233

Ache (e-PCR), detects polymorphism
- UniSTS:256417

Ache (e-PCR), detects polymorphism
- UniSTS:141003

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acetylcholine binding	ISO Inferred from Sequence Orthology more info
enables acetylcholinesterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylcholinesterase activity	IDA Inferred from Direct Assay more info	PubMed
enables acetylcholinesterase activity	ISO Inferred from Sequence Orthology more info
enables carboxylic ester hydrolase activity	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 collagen binding	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables laminin binding	IPI Inferred from Physical Interaction more info	PubMed
enables laminin binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables serine hydrolase activity	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
acts_upstream_of_or_within acetylcholine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in acetylcholine catabolic process	ISO Inferred from Sequence Orthology more info
involved_in acetylcholine metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within acetylcholine receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in choline metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in choline metabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of axonogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cold-induced thermogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of dendrite morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within receptor internalization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of receptor recycling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to insulin	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synapse assembly	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum lumen	ISO Inferred from Sequence Orthology more info
located_in extracellular region	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	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic membrane	ISO Inferred from Sequence Orthology more info
located_in presynaptic membrane	ISO Inferred from Sequence Orthology more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info
located_in synapse	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	ISO Inferred from Sequence Orthology more info
is_active_in synaptic cleft	ISO Inferred from Sequence Orthology more info
located_in synaptic cleft	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: acetylcholinesterase

NP_001276939.1

EC 3.1.1.7

NP_033729.1

EC 3.1.1.7

XP_036020624.1

EC 3.1.1.7

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_001290010.1 → NP_001276939.1 acetylcholinesterase precursor

See identical proteins and their annotated locations for NP_001276939.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AK036259, AK042335, BQ175376, BY261443

Consensus CDS

CCDS19763.1

UniProtKB/Swiss-Prot

P21836

UniProtKB/TrEMBL

B9UIT4, Q543Z1

Related

ENSMUSP00000083097.4, ENSMUST00000085934.4

Conserved Domains (3) summary

COG0657
Location:132 → 237

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

pfam00135
Location:36 → 563

COesterase; Carboxylesterase family

pfam08674
Location:578 → 611

AChE_tetra; Acetylcholinesterase tetramerization domain
NM_009599.4 → NP_033729.1 acetylcholinesterase precursor

See identical proteins and their annotated locations for NP_033729.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AK042335, BQ175376, BY261443

Consensus CDS

CCDS19763.1

UniProtKB/Swiss-Prot

P21836

UniProtKB/TrEMBL

B9UIT4, Q543Z1

Related

ENSMUSP00000024099.5, ENSMUST00000024099.11

Conserved Domains (3) summary

COG0657
Location:132 → 237

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

pfam00135
Location:36 → 563

COesterase; Carboxylesterase family

pfam08674
Location:578 → 611

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_000071.7 Reference GRCm39 C57BL/6J

Range

137286516..137292728

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036164731.1 → XP_036020624.1 acetylcholinesterase isoform X1

UniProtKB/TrEMBL

B9UIT4

Conserved Domains (1) summary

pfam00135
Location:37 → 563

COesterase; Carboxylesterase family