Version: 8.0.0Date: Tue Jan 28 2025
Gene
ACHE
- Species
- Homo sapiens
- Symbol
- ACHE
- Name
- acetylcholinesterase (Yt blood group)
- Synonyms
- ACEE
- acetylcholinesterase
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including acetylcholine binding activity; acetylcholinesterase activity; and protein homodimerization activity. Involved in acetylcholine catabolic process; cell adhesion; and osteoblast development. Located in several cellular components, including Golgi apparatus; perinuclear region of cytoplasm; and synapse. Implicated in Alzheimer's disease; drug dependence (multiple); epilepsy; myasthenia gravis; and subacute delirium. Biomarker of Hirschsprung's disease; autoimmune disease (multiple); bacterial meningitis; and neurodegenerative disease (multiple).
- RGD Description
- Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. AChE activity may constitute a sensitive biomarker of RBC ageing in vivo, and thus, may be of aid in understanding the effects of transfusion[provided by RefSeq, Sep 2019]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR43918
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr7:100889994...100896994 - (7.00 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.