ACHE - acetylcholinesterase (Cartwright blood group) Gene
Also Known as YT; ACEE; ARACHE; N-ACHE
Species: Homo sapiens
About ACHE
This gene has 14 transcripts (splice variants), 234 orthologues, 13 paralogues and is associated with 1 phenotype. Broad expression in bone marrow (RPKM 4.6), small intestine (RPKM 3.5) and 22 other tissues.
Summary
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]
ACHE Products (11)
| mRNA | Protein | Name |
|---|---|---|
| NM_001282449.2 | NP_001269378.1 | acetylcholinesterase isoform 3 precursor |
| NM_001302622.2 | NP_001289551.1 | acetylcholinesterase isoform E4-E6 precursor |
| NM_001367918.1 | NP_001354847.1 | acetylcholinesterase isoform 5 |
| NM_001367919.2 | NP_001354848.1 | acetylcholinesterase isoform 6 |
| NM_001367917.1 | NP_001354846.1 | acetylcholinesterase isoform E4-E6 precursor |
| NR_160407.1 | ||
| NR_160408.2 | ||
| NM_000665.5 | NP_000656.1 | acetylcholinesterase isoform E4-E6 precursor |
| NM_001367915.1 | NP_001354844.1 | acetylcholinesterase isoform E4-E6 precursor |
| NM_015831.2 | ||
| NM_001302621.3 | NP_001289550.1 | acetylcholinesterase isoform E4-E5 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables acetylcholine binding |
IDA
IDA: Inferred from direct assay
|
8349597 | GOA |
| enables acetylcholinesterase activity |
IDA
IDA: Inferred from direct assay
|
1517212 | GOA |
| enables acetylcholinesterase activity |
IMP
IMP: Inferred from mutant phenotype
|
1517212 | GOA |
| enables cholinesterase activity |
IDA
IDA: Inferred from direct assay
|
1517212 | GOA |
| enables collagen binding |
IDA
IDA: Inferred from direct assay
|
12524166 | GOA |
| enables hydrolase activity |
IDA
IDA: Inferred from direct assay
|
1517212 | GOA |
| enables laminin binding |
IDA
IDA: Inferred from direct assay
|
12524166 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10800960 | GOA |
| enables protein homodimerization activity |
IPI
IPI: Inferred from physical interaction
|
12524166 | GOA |
| enables serine hydrolase activity |
IDA
IDA: Inferred from direct assay
|
3954986 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in acetylcholine catabolic process |
IDA
IDA: Inferred from direct assay
|
1517212 | GOA |
| involved in cell adhesion |
IDA
IDA: Inferred from direct assay
|
15454088 | GOA |
| involved in osteoblast development |
IEP
IEP: Inferred from expression pattern
|
15454088 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
15454088 | GOA |
| located in extracellular region |
IDA
IDA: Inferred from direct assay
|
1517212 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
16262697 | GOA |
| located in perinuclear region of cytoplasm |
IDA
IDA: Inferred from direct assay
|
14766237 | GOA |
| located in synapse |
IDA
IDA: Inferred from direct assay
|
8460160 | GOA |
ACHE Protein Structure
COesterase: Carboxylesterase family (18 - 563)
AChE_tetra: Acetylcholinesterase tetramerisation domain (578 - 614)
- 0
- 100
- 200
- 300
- 400
- 500
- 614 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
acetylcholinesterase |
|
|
ACHE Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ACHE | P22303 | COLQ | Homo sapiens | Q9Y215 | 15526038 | |
|
Intra
|
ACHE | P22303 | RACK1 | Homo sapiens | P63244 | 18194455 | |
|
Intra
|
ACHE | P22303 | RACK1 | Homo sapiens | P63244 | 18194455 | |
|
Intra
|
ACHE | P22303 | ENO1 | Homo sapiens | P06733 | 18194455 | |
|
Intra
|
ACHE | P22303 | ENO1 | Homo sapiens | P06733 | 18194455 |
Recombinant ACHE Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P79277 | Acetylcholinesterase/ACHE Protein, Human (CHO, His) | P22303-1 (E32-L614) | ≥ 95%, as determined by reducing SDS-PAGE. |
ACHE Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P84186 | ACHE Antibody (YA3883) | WB, IHC-P, FC | Human, Mouse, Monkey, Rat |
| HY-P84186A | ACHE Antibody (YA3883)(PBS only) | WB, IHC-P, FC | Human, Mouse, Monkey, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Parkinson Disease, Late-Onset |
|
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| Nephrotic Syndrome, Type 1 |
|
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| Vascular Dementia |
|
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| Cascade Stomach |
|
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| Skin Disease |
|
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| Thrombocytopenia |
|
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| Alzheimer Disease 10 |
|
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| Peripheral Nervous System Disease |
|
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| Pick Disease Of Brain |
|
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| Parkinsonism |
|
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| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
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| Simultanagnosia |
|
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| Finger Agnosia |
|
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| Pupil Disease |
|
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| Aplasia Cutis Congenita |
|
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| Nervous System Disease |
|
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| Disease Of Mental Health |
|
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| Congenital Ptosis |
|
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| Neuromuscular Junction Disease |
|
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| Neurogenic Bowel |
|
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| Functional Colonic Disease |
|
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| Cerebrovascular Disease |
|
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| Diabetes Mellitus |
|
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| Congenital Hypothyroidism |
|
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| Supranuclear Palsy, Progressive, 1 |
|
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| Spina Bifida Aperta |
|
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| Mild Cognitive Impairment |
|
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| Amnestic Disorder |
|
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| Neural Tube Defects |
|
|
| Congenital Myasthenic Syndrome |
|
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| Myopathy |
|
|
| Yt Blood Group Antigen |
|
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| Down Syndrome |
|
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| Movement Disease |
|
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| Anencephaly |
|
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| Ptosis |
|
|
| Intestinal Pseudo-Obstruction |
|
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| Developmental And Epileptic Encephalopathy 47 |
|
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| Dementia |
|
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| Attention Deficit-Hyperactivity Disorder |
|
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| Muscular Dystrophy |
|
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| Gastroschisis |
|
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| Frontotemporal Dementia |
|
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| Persian Gulf Syndrome |
|
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| Status Epilepticus |
|
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| Wernicke-Korsakoff Syndrome |
|
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| Psychotic Disorder |
|
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| Huntington Disease |
|
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| Constipation |
|
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| Epilepsy, Familial Temporal Lobe, 2 |
|
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| Neuroblastoma |
|
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| Hirschsprung Disease 1 |
|
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| Alzheimer Disease, Familial, 1 |
|
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| Malaria |
|
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| Speech And Communication Disorders |
|
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| Schizophrenia |
|
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| Amyotrophic Lateral Sclerosis 1 |
|
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| Anxiety |
|
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| Epilepsy |
|
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| Toxic Encephalopathy |
|
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| Paroxysmal Nocturnal Hemoglobinuria |
|
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| Pure Autonomic Failure |
|
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| Junctional Epidermolysis Bullosa |
|
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| Alzheimer Disease 12 |
|
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| Intraocular Pressure Quantitative Trait Locus |
|
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| Acute Laryngopharyngitis |
|
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| Thiamine Deficiency Disease |
|
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| Omphalocele |
|
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| Colonic Pseudo-Obstruction |
|
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| Polyneuropathy |
|
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| Diarrhea |
|
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| Normal Pressure Hydrocephalus |
|
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| Megacolon |
|
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| Rem Sleep Behavior Disorder |
|
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| Neuromuscular Disease |
|
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| Dementia, Lewy Body |
|
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| Type 2 Diabetes Mellitus |
|
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| Lung Cancer |
|
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| Myasthenic Syndrome, Congenital, 5 |
|
|
| Myasthenia Gravis |
|
|
| Binswanger'S Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | ACHE | VGNC | VGNC:80325 |
| Felis catus | ACHE | VGNC | VGNC:80549 |
| Canis familiaris | ACHE | VGNC | VGNC:49076 |
| Mus musculus | ACHE | MGD | MGI:87876 |
| Rattus norvegicus | ACHE | RGD | RGD:69313 |
| Others | ACHE | NCBI |