UniProt functional annotation for P22303



	UniProt functional annotation for P22303

UniProt code: P22303.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Terminates 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}.

Catalytic activity: Reaction=acetylcholine + H2O = acetate + choline + H(+); Xref=Rhea:RHEA:17561, ChEBI:CHEBI:15354, ChEBI:CHEBI:15355, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089; EC=3.1.1.7;

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. {ECO:0000250, ECO:0000269|PubMed:11053835, ECO:0000269|PubMed:15526038}.

Subcellular location: Cell junction, synapse {ECO:0000269|PubMed:11985878, ECO:0000269|PubMed:1748670}. Secreted {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.

Subcellular location: [Isoform T]: Nucleus. Note=Only observed in apoptotic nuclei.

Subcellular location: [Isoform H]: Cell membrane {ECO:0000250}; Lipid- anchor, GPI-anchor {ECO:0000250}; Extracellular side {ECO:0000250}.

Tissue specificity: Isoform H is highly expressed in erythrocytes. {ECO:0000269|PubMed:2714437}.

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. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Terminates 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}.


Catalytic activity:		Reaction=acetylcholine + H2O = acetate + choline + H(+); Xref=Rhea:RHEA:17561, ChEBI:CHEBI:15354, ChEBI:CHEBI:15355, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089; EC=3.1.1.7;
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. {ECO:0000250, ECO:0000269\|PubMed:11053835, ECO:0000269\|PubMed:15526038}.
Subcellular location:		Cell junction, synapse {ECO:0000269\|PubMed:11985878, ECO:0000269\|PubMed:1748670}. Secreted {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
Subcellular location:		[Isoform T]: Nucleus. Note=Only observed in apoptotic nuclei.
Subcellular location:		[Isoform H]: Cell membrane {ECO:0000250}; Lipid- anchor, GPI-anchor {ECO:0000250}; Extracellular side {ECO:0000250}.
Tissue specificity:		Isoform H is highly expressed in erythrocytes. {ECO:0000269\|PubMed:2714437}.
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. {ECO:0000305}.