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BCHE butyrylcholinesterase [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_000055 Homo sapiens butyrylcholinesterase (BCHE), mRNA. Full Length $713.69
ORF Sequence $524.61


Gene Symbol BCHE
Entrez Gene ID 590
Full Name butyrylcholinesterase
Synonyms CHE1, E1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

3

3q26.1-q26.2
Summary Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. [provided by RefSeq].
Disorder

MIM: 177400

Apnea, postanesthetic (3)
mRNA NM_000055, 148277049
Protein NP_000046, 4557351
Product cholinesterase precursor
RefSeq Status REVIEWED
WikiPathways
WP229Irinotecan Pathway
Reactome
REACT_15380Diabetes pathways
REACT_19189Synthesis, Secretion, and Deacylation of Ghrelin
Homo sapiens (human)BCHENP_000046.1
Pan troglodytes (chimpanzee)BCHEXP_516857.2
Canis lupus familiaris (dog)BCHEXP_545267.2
Bos taurus (cattle)BCHENP_001070374.1
Mus musculus (house mouse)BcheNP_033868.3
Rattus norvegicus (Norway rat)BcheNP_075231.1
Gallus gallus (chicken)BCHENP_989977.1
Process
IDNameEvidence
GO:0006581acetylcholine catabolic processISS
GO:0007271synaptic transmission, cholinergicISS
GO:0007584response to nutrientIEA
GO:0007612learningIEA
GO:0008152metabolic processNAS
GO:0019695choline metabolic processISS
GO:0042493response to drugIEA
GO:0043279response to alkaloidIEA
GO:0050783cocaine metabolic processTAS
GO:0050804regulation of synaptic transmissionISS
GO:0050805negative regulation of synaptic transmissionIEA
GO:0051384response to glucocorticoid stimulusIEA
GO:0051593response to folic acidIEA
Component
IDNameEvidence
GO:0005576extracellular regionNAS
GO:0005615extracellular spaceISS
GO:0005624membrane fractionIEA
GO:0005641nuclear envelope lumenIEA
GO:0005783endoplasmic reticulumIEA
GO:0005788endoplasmic reticulum lumenISS
GO:0016020membraneIEA
Function
IDNameEvidence
GO:0001540beta-amyloid bindingNAS
GO:0003824catalytic activityNAS
GO:0003990acetylcholinesterase activityISS
GO:0004091carboxylesterase activityIEA
GO:0004104cholinesterase activityIDA
GO:0004104cholinesterase activityNAS
GO:0016787hydrolase activityIEA
GO:0019899enzyme bindingNAS
GO:0033265choline bindingIEA
GeneCards BCHE
PDB 2WSL, 2XMG, 2XMB, 2J4C, 2WIK, 1KCJ, 1XLU, 1P0P, 2WIJ, 2XMD, 1XLV, 1EHO, 1P0M, 2PM8, 1XLW, 1EHQ, 1P0Q, 2XMC, 2WID, 2WIL, 3DJY, 2WIF, 3DKK, 1P0I, 2WIG
UniProt P06276
MIM 177400
Ensembl ENSG00000114200
HGNC 983
HPRD 01519

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