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MGP000027

UniProt Annotations

Entry Information
Gene Nameacetylcholinesterase (Yt blood group)
Protein Entry
UniProt ID
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=T; Synonyms=ACHE-S, synaptic; IsoId=P22303-1; Sequence=Displayed; Name=H; Synonyms=ACHE-E, erythrocytic, E4-E5; IsoId=P22303-2; Sequence=VSP_001457; Note=GPI-anchor amidated glycine on Gly-588. Ref.9 (AAI43470) sequence is in conflict in position: 592:P->R. {ECO:0000305}; Name=R; Synonyms=ACHE-R, readthrough; IsoId=P22303-4; Sequence=VSP_035569, VSP_035570; Name=4; IsoId=P22303-3; Sequence=VSP_035568; Note=No experimental confirmation available.;
Catalytic ActivityAcetylcholine + H(2)O = choline + acetate.
FunctionTerminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft. Role in neuronal apoptosis. {ECO:0000269|PubMed:11985878, ECO:0000269|PubMed:1517212, ECO:0000269|PubMed:1748670, ECO:0000269|PubMed:2714437}.
InteractionQ9Y215: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;
PolymorphismACHE 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).
SimilarityBelongs to the type-B carboxylesterase/lipase family. {ECO:0000305}.
Subcellular LocationCell junction, synapse {ECO:0000269|PubMed:11985878, ECO:0000269|PubMed:1748670}. Secreted {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
Subcellular LocationIsoform H: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}; Extracellular side {ECO:0000250}.
Subcellular LocationIsoform T: Nucleus. Note=Only observed in apoptotic nuclei.
SubunitInteracts 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. {ECO:0000250, ECO:0000269|PubMed:11053835, ECO:0000269|PubMed:15526038}.
Tissue SpecificityIsoform H is highly expressed in erythrocytes. {ECO:0000269|PubMed:2714437}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ACHEID44317ch7q22.html";
Web ResourceName=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 ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ache/";
Web ResourceName=Wikipedia; Note=Acetylcholinesterase entry; URL="http://en.wikipedia.org/wiki/Acetylcholinesterase";
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