Description: Homo sapiens butyrylcholinesterase (BCHE), transcript variant 1, mRNA. (from RefSeq NM_000055) RefSeq Summary (NM_000055): This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]. Gencode Transcript: ENST00000264381.8 Gencode Gene: ENSG00000114200.10 Transcript (Including UTRs) Position: hg38 chr3:165,772,904-165,837,423 Size: 64,520 Total Exon Count: 4 Strand: - Coding Region Position: hg38 chr3:165,773,382-165,831,033 Size: 57,652 Coding Exon Count: 3
ID:CHLE_HUMAN DESCRIPTION: RecName: Full=Cholinesterase; EC=18.104.22.168; AltName: Full=Acylcholine acylhydrolase; AltName: Full=Butyrylcholine esterase; AltName: Full=Choline esterase II; AltName: Full=Pseudocholinesterase; Flags: Precursor; FUNCTION: Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters. CATALYTIC ACTIVITY: An acylcholine + H(2)O = choline + a carboxylate. ENZYME REGULATION: Inhibited by mercury. Inhibited by Tabun. Tabun forms a covalent adduct with Ser-226 that becomes irreversible upon aging. SUBUNIT: Homotetramer; disulfide-linked. Dimer of dimers. SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Detected in blood plasma (at protein level). Present in most cells except erythrocytes. DISEASE: Defects in BCHE are the cause of butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]. BChE deficiency is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency. BChE deficiency is a multifactorial disorder. The hereditary condition is transmitted as an autosomal recessive trait. SIMILARITY: Belongs to the type-B carboxylesterase/lipase family.
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 P06276
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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.