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MGP000294

UniProt Annotations

Entry Information

Gene Name	butyrylcholinesterase
Protein Entry	CHLE_HUMAN
UniProt ID	P06276
Species	Human

Comments

Comment type	Description
Catalytic Activity	An acylcholine + H(2)O = choline + a carboxylate. {ECO:0000269\|PubMed:19368529, ECO:0000269\|PubMed:19452557}.
Disease	Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]: A metabolic disorder characterized by prolonged apnea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency. {ECO:0000269\|PubMed:10404729, ECO:0000269\|PubMed:11928765, ECO:0000269\|PubMed:12881446, ECO:0000269\|PubMed:1306123, ECO:0000269\|PubMed:1349196, ECO:0000269\|PubMed:1415224, ECO:0000269\|PubMed:15563885, ECO:0000269\|PubMed:1611188, ECO:0000269\|PubMed:16788378, ECO:0000269\|PubMed:18075469, ECO:0000269\|PubMed:2915989, ECO:0000269\|PubMed:7634491, ECO:0000269\|PubMed:8554068, ECO:0000269\|PubMed:8680411, ECO:0000269\|PubMed:9110359, ECO:0000269\|PubMed:9191541, ECO:0000269\|PubMed:9388484, ECO:0000269\|PubMed:9543549, ECO:0000269\|PubMed:9694584}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme Regulation	Inhibited by mercury. Inhibited by Tabun. Tabun forms a covalent adduct with Ser-226 that becomes irreversible upon aging. {ECO:0000269\|PubMed:17355286, ECO:0000269\|PubMed:18975951, ECO:0000269\|PubMed:19368529}.
Function	Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters. {ECO:0000269\|PubMed:19452557, ECO:0000269\|PubMed:19542320}.
Interaction	Self; NbExp=2; IntAct=EBI-7936069, EBI-7936069;
Ptm	N-glycosylated. No other PTM detected (PubMed:20946535). The major N-glycan structures are of the complex diantennary type with 1 and 2 N-acetylneuraminic acid molecules (Neu5Ac) making up approximately 33% and 47% of the total N-glycans, respectively. Only low amounts of fucosylated diantennary N-glycans are detected (approximately 2%). Triantennary N-glycans with or without fucose amount to approximately 13%, whereas 5% of the total N-glycans are of the oligomannosidic or hybrid type. {ECO:0000269\|PubMed:12869558, ECO:0000269\|PubMed:14760718, ECO:0000269\|PubMed:15667209, ECO:0000269\|PubMed:16335952, ECO:0000269\|PubMed:17355286, ECO:0000269\|PubMed:17768338, ECO:0000269\|PubMed:18203274, ECO:0000269\|PubMed:18975951, ECO:0000269\|PubMed:19139490, ECO:0000269\|PubMed:19159218, ECO:0000269\|PubMed:19368529, ECO:0000269\|PubMed:20946535}.
Similarity	Belongs to the type-B carboxylesterase/lipase family. {ECO:0000305}.
Subcellular Location	Secreted {ECO:0000269\|PubMed:19368529, ECO:0000269\|PubMed:19542320}.
Subunit	Homotetramer; disulfide-linked. Dimer of dimers. {ECO:0000269\|PubMed:12869558, ECO:0000269\|PubMed:15667209, ECO:0000269\|PubMed:17355286, ECO:0000269\|PubMed:17768338, ECO:0000269\|PubMed:18975951, ECO:0000269\|PubMed:19368529, ECO:0000269\|PubMed:19542320, ECO:0000269\|PubMed:3115973}.
Tissue Specificity	Detected in blood plasma (at protein level). Present in most cells except erythrocytes. {ECO:0000269\|PubMed:19368529, ECO:0000269\|PubMed:19542320}.