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BCHE butyrylcholinesterase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000055 Homo sapiens butyrylcholinesterase (BCHE), mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_005247685 PREDICTED: Homo sapiens butyrylcholinesterase (BCHE), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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Gene Symbol BCHE
Entrez Gene ID 590
Full Name butyrylcholinesterase
Synonyms CHE1, CHE2, E1
General protein information
Preferred Names
cholinesterase
Names
cholinesterase
cholinesterase 1
choline esterase II
pseudocholinesterase
butyrylcholine esterase
cholinesterase (serum) 2
acylcholine acylhydrolase
NP_000046.1
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, Jul 2008].
Disorder

MIM: 177400

Apnea, postanesthetic (3)

mRNA Protein Product Sequence Price Select
NM_000055, 148277049 NP_000046, 4557351 cholinesterase precursor ORF Sequence $700.00
XM_005247685, 530375090 XP_005247742, 530375091 cholinesterase isoform X1 ORF Sequence $700.00
WikiPathways
WP229Irinotecan Pathway
Reactome
REACT_19189Synthesis, secretion, and deacylation of Ghrelin
REACT_17015Metabolism of proteins
REACT_13583Neurotransmitter Clearance In The Synaptic Cleft
REACT_13477Transmission across Chemical Synapses
REACT_13685Neuronal System
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
REACT_121401Glycerophospholipid biosynthesis
REACT_120870Phospholipid metabolism
REACT_121238Synthesis of PC
REACT_160078Peptide hormone metabolism
Homo sapiens (human)BCHENP_000046.1
Pan troglodytes (chimpanzee)BCHEXP_516857.2
Macaca mulatta (Rhesus monkey)BCHEXP_002808379.1
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
Xenopus (Silurana) tropicalis (western clawed frog)LOC100495889XP_002931610.1
Process
IDNameEvidence
GO:0007271synaptic transmission, cholinergicIBA
GO:0007612learningIEA
GO:0008285negative regulation of cell proliferationIEA
GO:0014016neuroblast differentiationIEA
GO:0019695choline metabolic processIBA
GO:0042493response to drugIEA
GO:0043279response to alkaloidIEA
GO:0044267cellular protein metabolic processTAS
GO:0050783cocaine metabolic processTAS
GO:0050805negative regulation of synaptic transmissionIEA
GO:0051384response to glucocorticoidIEA
GO:0051593response to folic acidIEA
Component
IDNameEvidence
GO:0005576extracellular regionNAS
GO:0005576extracellular regionTAS
GO:0005615extracellular spaceIBA
GO:0005641nuclear envelope lumenIEA
GO:0005788endoplasmic reticulum lumenIBA
GO:0016020membraneIEA
GO:0072562blood microparticleIDA
Function
IDNameEvidence
GO:0001540beta-amyloid bindingNAS
GO:0003824catalytic activityNAS
GO:0003990acetylcholinesterase activityIBA
GO:0003990acetylcholinesterase activityISS
GO:0004104cholinesterase activityIDA
GO:0019899enzyme bindingNAS
GO:0033265choline bindingIEA
GO:0042802identical protein bindingIPI
GeneCards BCHE
PDB 2Y1K, 2XMG, 1XLU, 2XMD, 2XQI, 1EHO, 2XQJ, 1XLW, 1EHQ, 2XMC, 4B0P, 2XQF, 4AQD, 3O9M, 2WIL, 1P0I, 2WSL, 2XQK, 4B0O, 4BBZ, 2J4C, 2XMB, 1KCJ, 2WIK, 4BDS, 1P0P, 2WIJ, 1XLV, 4AXB, 1P0M, 2PM8, 1P0Q, 2WID, 2XQG, 2WIF, 3DJY, 3DKK, 2WIG
UniProt P06276, D3DNN4
Vega OTTHUMG00000158131
MIM 177400
Ensembl ENSG00000114200
HGNC 983
HPRD 01519

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the BCHE gene?

The BCHE gene provides instructions for making the pseudocholinesterase enzyme, also known as butyrylcholinesterase, which is produced by the liver and circulates in the blood. The pseudocholinesterase enzyme is involved in the breakdown of certain drugs, including muscle relaxant drugs called choline esters that are used during general anesthesia. These drugs are given to relax the muscles used for movement (skeletal muscles), including the muscles involved in breathing, and are often employed in emergencies when a breathing tube must be inserted quickly.

Pseudocholinesterase also helps protect the body by breaking down certain toxic substances before they reach the nerves. These substances include certain pesticides, poisons that attack the nerves, and specific natural toxins including a compound called solanine found in green potato skin. It is likely that the enzyme has other functions in the body, but these functions are not well understood. Studies suggest that the enzyme may be involved in the transmission of nerve signals.

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