ACHE (Acetylcholinesterase) Gene
Key regulator of cholinergic neurotransmission and target for neurodegenerative disease research
Gene Information Card
| Symbol | ACHE |
|---|---|
| Full Name | Acetylcholinesterase (Cartwright blood group) |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 43 ncbi.nlm.nih.gov/gene/43 |
| Ensembl ID | ENSG00000087085 |
| UniProt ID | P22303 |
| OMIM ID | 100740 |
| HGNC ID | 108 |
| Aliases | YT, ACEE, ARACHE, N-ACHE |
Description
The ACHE gene encodes acetylcholinesterase, an enzyme that hydrolyzes the neurotransmitter acetylcholine at synaptic clefts to terminate cholinergic signaling. It is critical for neuromuscular junction function, central nervous system neurotransmission, and is a target for organophosphate pesticides and nerve agents. Alternative splicing produces multiple isoforms, including the synaptic (H) and erythrocyte (R) forms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | Reduced ACHE activity contributes to cholinergic deficit; ACHE inhibitors used therapeutically to increase acetylcholine levels. | NCBI Gene, OMIM |
| Myasthenia gravis | Autoantibodies against acetylcholine receptors reduce signaling; ACHE inhibitors (e.g., pyridostigmine) improve neuromuscular transmission. | NCBI Gene, OMIM |
| Organophosphate poisoning | Organophosphates irreversibly inhibit ACHE, causing acetylcholine accumulation, cholinergic crisis, and neuromuscular paralysis. | NCBI Gene, ClinVar |
| Yt blood group incompatibility | Polymorphisms in ACHE define the Cartwright (Yt) blood group system; anti-Yt antibodies can cause transfusion reactions. | OMIM, HGNC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Muscle (skeletal) | 8.3 | Low |
| Liver | 2.1 | Low |
| Blood (whole) | 1.5 | Low |
| Kidney | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used for cholinergic studies |
| HepG2 (hepatocellular carcinoma) | 3.4 | Low expression |
| K562 (leukemia) | 1.1 | Low expression |
| MCF7 (breast cancer) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.169G>A (p.Gly57Arg) | Missense | <0.01% | Reduced enzyme activity; associated with Yt blood group variant |
| c.293A>G (p.Tyr98Cys) | Missense | <0.01% | Decreased catalytic efficiency; reported in ClinVar |
| c.1198C>T (p.Arg400Cys) | Missense | <0.01% | Loss of function; linked to increased susceptibility to organophosphate toxicity |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Gly57Arg, p.Arg400Cys) reduce or abolish acetylcholinesterase activity, impairing acetylcholine hydrolysis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ACHE.
Dominant Negative (DN)
No dominant-negative mutations described for ACHE.
View complete mutation data：
Gene Ontology (GO)
| • acetylcholinesterase activity (GO:0003990) | • serine-type esterase activity (GO:0017171) |
| • cholinergic synapse (GO:0098981) | • neuromuscular junction (GO:0031594) |
| • plasma membrane (GO:0005886) |
Pathways
• Acetylcholine degradation (Reactome: R-HSA-264642)
• Neurotransmitter clearance (Reactome: R-HSA-112311)
• Cholinergic synapse (KEGG: hsa04725)
Protein Summary
Acetylcholinesterase (UniProt P22303) is a 614-amino-acid glycoprotein that forms a homodimer or heterodimer with a collagen-like tail (Q subunit) at the neuromuscular junction. The active site contains a catalytic triad (Ser203, His447, Glu334) and a peripheral anionic site. The enzyme rapidly hydrolyzes acetylcholine (kcat ~10^4 s^-1) and is inhibited by organophosphates, carbamates, and donepezil. Isoform H (synaptic) is membrane-bound via a GPI anchor; isoform R (erythrocyte) is soluble.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACHE Knockout HEK293 Cell Line | EDJ-KQ3997 | Human | 43 | Details Get a Quote |
| ACHE Knockout A-549 Cell Line | EDJ-KQ24974 | Human | 43 | Details Get a Quote |
| ACHE Knockout HCT 116 Cell Line | EDJ-KQ26318 | Human | 43 | Details Get a Quote |
| ACHE Knockout HeLa Cell Line | EDJ-KQ52535 | Human | 43 | Details Get a Quote |
| ACHE Knockout HAP1 Cell Line | EDC08152 | Human | 43 | Details Get a Quote |
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