ID:ACES_HUMAN DESCRIPTION: RecName: Full=Acetylcholinesterase; Short=AChE; EC=3.1.1.7; Flags: Precursor; FUNCTION: Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft. Role in neuronal apoptosis. CATALYTIC ACTIVITY: Acetylcholine + H(2)O = choline + acetate. SUBUNIT: Interacts with PRIMA1. The interaction with PRIMA1 is required to anchor it to the basal lamina of cells and organize into tetramers (By similarity). Isoform H generates GPI-anchored dimers; disulfide linked. Isoform T generates multiple structures, ranging from monomers and dimers to collagen-tailed and hydrophobic-tailed forms, in which catalytic tetramers are associated with anchoring proteins that attach them to the basal lamina or to cell membranes. In the collagen-tailed forms, isoform T subunits are associated with a specific collagen, COLQ, which triggers the formation of isoform T tetramers, from monomers and dimers. Isoform R may be monomeric. INTERACTION: Q9Y215:COLQ; NbExp=2; IntAct=EBI-1637793, EBI-1637847; P06733:ENO1; NbExp=2; IntAct=EBI-1637793, EBI-353877; P63244:GNB2L1; NbExp=2; IntAct=EBI-1637793, EBI-296739; SUBCELLULAR LOCATION: Cell junction, synapse. Secreted (By similarity). Cell membrane; Peripheral membrane protein (By similarity). SUBCELLULAR LOCATION: Isoform T: Nucleus. Note=Only observed in apoptotic nuclei. SUBCELLULAR LOCATION: Isoform H: Cell membrane; Lipid-anchor, GPI- anchor; Extracellular side (By similarity). TISSUE SPECIFICITY: Isoform H is highly expressed in erythrocytes. POLYMORPHISM: ACHE is responsible for the Yt blood group system [MIM:112100]. The molecular basis of the Yt(a)=Yt1/Yt(b)=Yt2 blood group antigens is a single variation in position 353; His-353 corresponds to Yt(a) and the rare variant with Asn-353 to Yt(b). SIMILARITY: Belongs to the type-B carboxylesterase/lipase family. WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=yt"; WEB RESOURCE: Name=Wikipedia; Note=Acetylcholinesterase entry; URL="http://en.wikipedia.org/wiki/Acetylcholinesterase"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ache/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P22303
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001507 acetylcholine catabolic process in synaptic cleft GO:0001919 regulation of receptor recycling GO:0002076 osteoblast development GO:0006260 DNA replication GO:0006581 acetylcholine catabolic process GO:0006656 phosphatidylcholine biosynthetic process GO:0007155 cell adhesion GO:0007399 nervous system development GO:0007416 synapse assembly GO:0007517 muscle organ development GO:0008283 cell proliferation GO:0009611 response to wounding GO:0031623 receptor internalization GO:0032223 negative regulation of synaptic transmission, cholinergic GO:0042135 neurotransmitter catabolic process GO:0042136 neurotransmitter biosynthetic process GO:0042982 amyloid precursor protein metabolic process GO:0045212 neurotransmitter receptor biosynthetic process GO:0050714 positive regulation of protein secretion GO:0051262 protein tetramerization GO:0060041 retina development in camera-type eye
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
