Source: hRBCD ; ID: IPI00026103
BGMUT ; ID: yt
Marked as 'Membrane associated protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)

Gene names: ACHE
Protein names and data: ACES_HUMAN , Acetylcholinesterase; AChE;; Flags: Precursor Lenght: 614 a.a.
Mass: 67796 Da
fasta formatted sequence

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.
Cellular location: Cell junction, synapse. Secreted (By similarity). Cell membrane; Peripheral membrane protein (By similarity). Isoform T: Nucleus. Note=Only observed in apoptotic nuclei. Isoform H: Cell membrane; Lipid-anchor, GPI- anchor; Extracellular side (By similarity).
Tissue specificity: Isoform H is highly expressed in erythrocytes.

Genetic variants

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).

Database cross-references

UniProt: P22303
Ensembl: ENST00000241069
Ensembl: ENST00000302913
Ensembl: ENST00000411582
Ensembl: ENST00000412389
Ensembl: ENST00000419336
Ensembl: ENST00000428317
MIM: 100740
MIM: 112100
neXtProt: NX_P22303
Antibodypedia: P22303 (may not find the protein thus also not any antibody)
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