BCHE (butyrylcholinesterase)

2003-11-01  

Identity

HGNC
LOCATION
3q26.1
LOCUSID
ALIAS
BCHED,CHE1,CHE2,E1
FUSION GENES

Other Information

Locus ID:

NCBI: 590
MIM: 177400
HGNC: 983
Ensembl: ENSG00000114200

Variants:

dbSNP: 590
ClinVar: 590
TCGA: ENSG00000114200
COSMIC: BCHE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114200ENST00000264381P06276
ENSG00000114200ENST00000479451H0Y885
ENSG00000114200ENST00000482958F8WEX7
ENSG00000114200ENST00000488954H7C4Y0
ENSG00000114200ENST00000497011F8WF14

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Peptide hormone metabolismREACTOMER-HSA-2980736
Synthesis, secretion, and deacylation of GhrelinREACTOMER-HSA-422085
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Clearance In The Synaptic CleftREACTOMER-HSA-112311
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PCREACTOMER-HSA-1483191

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA165110775SN-38ChemicalPathwayassociated
PA166122649postanesthesia apneaDiseaseClinicalAnnotationassociatedPKPD12724618, 12881446, 15731589, 21029050, 21228368, 21637541, 22053728, 2915989
PA166176306cognitive dysfunctionDiseaseClinicalAnnotationassociatedPD17047484, 18780301, 27567841, 27911294
PA166182885oxymetazoline and tetracaineChemicalLabelAnnotationassociated
PA443319Alzheimer DiseaseDiseaseClinicalAnnotationassociatedPD12668920, 17047484, 18780301, 25376930, 27567841, 27911294
PA446878Cocaine-Related DisordersDiseaseClinicalAnnotationassociated24312228
PA447127Lewy Body DiseaseDiseaseClinicalAnnotationassociatedPD12668920, 17047484, 18780301, 25376930
PA449072cocaineChemicalClinicalAnnotation, Literature, MultilinkAnnotationassociated24312228
PA449394donepezilChemicalClinicalAnnotationassociatedPD17047484, 18780301, 27567841, 27911294
PA450085irinotecanChemicalPathwayassociated
PA450528mivacuriumChemicalVariantAnnotationassociatedPD27031121
PA450529mivacurium chlorideChemicalLabelAnnotationassociated
PA451262rivastigmineChemicalClinicalAnnotationassociatedPD12668920, 17047484, 18780301, 25376930
PA451522succinylcholineChemicalClinicalAnnotation, LabelAnnotation, Literature, MultilinkAnnotation, Pathway, VariantAnnotationassociatedPKPD12724618, 12881446, 1415224, 15731589, 18075469, 21029050, 21228368, 21637541, 22053728, 25054547, 26398623, 2915989

References

Pubmed IDYearTitleCitations
128695582003Crystal structure of human butyrylcholinesterase and of its complexes with substrate and products.142
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
162134672005Butyrylcholinesterase, paraoxonase, and albumin esterase, but not carboxylesterase, are present in human plasma.84
234198312014APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.74
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
176602982007Recombinant human butyrylcholinesterase from milk of transgenic animals to protect against organophosphate poisoning.59
203089902011Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.47
191561682009Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.46
118563222002Engineering of a monomeric and low-glycosylated form of human butyrylcholinesterase: expression, purification, characterization and crystallization.34
167316192006Butyrylcholinesterase attenuates amyloid fibril formation in vitro.33

Citation

Dessen P

BCHE (butyrylcholinesterase)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/769/bche