BCHE (butyrylcholinesterase)

2003-11-01  

Identity

HGNC
BCHE
LOCATION
3q26.1
LOCUSID
590
ALIAS
BCHED,CHE1,CHE2,E1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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
371294442024Butyrylcholinesterase in lipid metabolism: A new outlook.1
383575462024Progressions of the correlation between lipid metabolism and immune infiltration characteristics in gastric cancer and identification of BCHE as a potential biomarker.1
384244902024Butyrylcholinesterase activity in patients with postoperative delirium after cardiothoracic surgery or percutaneous valve replacement- an observational interdisciplinary cohort study.0
385946212024Onset of Alzheimer disease in apolipoprotein ɛ4 carriers is earlier in butyrylcholinesterase K variant carriers.0
371294442024Butyrylcholinesterase in lipid metabolism: A new outlook.1
383575462024Progressions of the correlation between lipid metabolism and immune infiltration characteristics in gastric cancer and identification of BCHE as a potential biomarker.1
384244902024Butyrylcholinesterase activity in patients with postoperative delirium after cardiothoracic surgery or percutaneous valve replacement- an observational interdisciplinary cohort study.0
385946212024Onset of Alzheimer disease in apolipoprotein ɛ4 carriers is earlier in butyrylcholinesterase K variant carriers.0
361267492023Novel activity of human BChE: Lipid hydrolysis.3
365928092023Dysregulation of butyrylcholinesterase, BCHE gene SNP rs1803274, and pro-inflammatory cytokines in occupational workers.0
372098602023Serum butyrylcholinesterase as a marker of COVID-19 mortality: Results of the monocentric prospective observational study.0
375084832023Improving the Efficiency of Precise Genome Editing with CRISPR/Cas9 to Generate Goats Overexpressing Human Butyrylcholinesterase.0
378841822023Butyrylcholinesterase signal sequence self-aggregates and enhances amyloid fibril formation in vitro.1
380635002023Human Butyrylcholinesterase Mutants for (-)-Cocaine Hydrolysis: A Correlation Relationship between Catalytic Efficiency and Total Hydrogen Bonding Energy with an Oxyanion Hole.0
361267492023Novel activity of human BChE: Lipid hydrolysis.3

Citation

Dessen P

BCHE (butyrylcholinesterase)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/769/bche-(butyrylcholinesterase)