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Aliases for BCHE Gene

Aliases for BCHE Gene

  • Butyrylcholinesterase 2 3 5
  • Acylcholine Acylhydrolase 3 4
  • Cholinesterase (Serum) 2 2 3
  • Butyrylcholine Esterase 3 4
  • Pseudocholinesterase 3 4
  • Choline Esterase II 3 4
  • Cholinesterase 1 2 3
  • EC 3.1.1.8 4 63
  • CHE1 3 4
  • EC 3.1.1 63
  • CHE2 3
  • E1 3

External Ids for BCHE Gene

Previous HGNC Symbols for BCHE Gene

  • CHE1
  • CHE2

Previous GeneCards Identifiers for BCHE Gene

  • GC03M162635
  • GC03M166531
  • GC03M166892
  • GC03M166811
  • GC03M166973
  • GC03M165490
  • GC03M162859

Summaries for BCHE Gene

Entrez Gene Summary for BCHE Gene

  • 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]

GeneCards Summary for BCHE Gene

BCHE (Butyrylcholinesterase) is a Protein Coding gene. Diseases associated with BCHE include pseudocholinesterase deficiency and cocaine intoxication. Among its related pathways are Irinotecan Pathway, Pharmacokinetics and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. GO annotations related to this gene include identical protein binding and hydrolase activity. An important paralog of this gene is CES2.

UniProtKB/Swiss-Prot for BCHE Gene

  • Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters.

Tocris Summary for BCHE Gene

  • Cholinesterases inactivate the neurotransmitter acetylcholine by catalyzing its hydrolysis to choline and acetic acid. Acetylcholinesterase (AChE) is found in erythroid cells and at neuronal synapses, whilst butyrylcholinesterase is mostly expressed in the liver.

Gene Wiki entry for BCHE Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCHE Gene

Genomics for BCHE Gene

Regulatory Elements for BCHE Gene

Enhancers for BCHE Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BCHE on UCSC Golden Path with GeneCards custom track

Promoters for BCHE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BCHE on UCSC Golden Path with GeneCards custom track

Genomic Location for BCHE Gene

Chromosome:
3
Start:
165,772,904 bp from pter
End:
165,837,472 bp from pter
Size:
64,569 bases
Orientation:
Minus strand

Genomic View for BCHE Gene

Genes around BCHE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCHE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCHE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCHE Gene

Proteins for BCHE Gene

  • Protein details for BCHE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06276-CHLE_HUMAN
    Recommended name:
    Cholinesterase
    Protein Accession:
    P06276
    Secondary Accessions:
    • A8K7P8

    Protein attributes for BCHE Gene

    Size:
    602 amino acids
    Molecular mass:
    68418 Da
    Quaternary structure:
    • Homotetramer; disulfide-linked. Dimer of dimers.

    Three dimensional structures from OCA and Proteopedia for BCHE Gene

neXtProt entry for BCHE Gene

Proteomics data for BCHE Gene at MOPED

Post-translational modifications for BCHE Gene

  • N-glycosylated. No other PTM detected (PubMed:20946535). The major N-glycan structures are of the complex diantennary type with 1 and 2 N-acetylneuraminic acid molecules (Neu5Ac) making up approximately 33% and 47% of the total N-glycans, respectively. Only low amounts of fucosylated diantennary N-glycans are detected (approximately 2%). Triantennary N-glycans with or without fucose amount to approximately 13%, whereas 5% of the total N-glycans are of the oligomannosidic or hybrid type.
  • Glycosylation at Asn 45, Asn 85, Asn 134, Asn 269, Asn 284, Asn 369, Asn 483, Asn 509, Asn 513, and Asn 514
  • Modification sites at PhosphoSitePlus

Other Protein References for BCHE Gene

Antibody Products

  • R&D Systems Antibodies for BCHE (Butyrylcholinesterase/BCHE)

Domains & Families for BCHE Gene

Suggested Antigen Peptide Sequences for BCHE Gene

Graphical View of Domain Structure for InterPro Entry

P06276

UniProtKB/Swiss-Prot:

CHLE_HUMAN :
  • Belongs to the type-B carboxylesterase/lipase family.
Family:
  • Belongs to the type-B carboxylesterase/lipase family.
genes like me logo Genes that share domains with BCHE: view

No data available for Gene Families for BCHE Gene

Function for BCHE Gene

Molecular function for BCHE Gene

GENATLAS Biochemistry:
butyryl cholinesterase,serum,with contradictory evidence for association of the K variant with Alzheimer disease,ApoE4 carrier
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=18.0 uM for butyrylthiocholine (at 25 degrees Celsius) {ECO:0000269 PubMed:25054547};
UniProtKB/Swiss-Prot CatalyticActivity:
An acylcholine + H(2)O = choline + a carboxylate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by mercury. Inhibited by Tabun. Tabun forms a covalent adduct with Ser-226 that becomes irreversible upon aging.
UniProtKB/Swiss-Prot Function:
Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters.

Enzyme Numbers (IUBMB) for BCHE Gene

Gene Ontology (GO) - Molecular Function for BCHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding NAS 11569538
GO:0042802 identical protein binding IPI 20883446
genes like me logo Genes that share ontologies with BCHE: view
genes like me logo Genes that share phenotypes with BCHE: view

Human Phenotype Ontology for BCHE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BCHE Gene

MGI Knock Outs for BCHE:

Animal Model Products

miRNA for BCHE Gene

miRTarBase miRNAs that target BCHE

No data available for Transcription Factor Targets and HOMER Transcription for BCHE Gene

Localization for BCHE Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCHE Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BCHE Gene COMPARTMENTS Subcellular localization image for BCHE gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
nucleus 3
cytoskeleton 2
cytosol 2
lysosome 2
mitochondrion 2
plasma membrane 2
vacuole 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for BCHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with BCHE: view

Pathways & Interactions for BCHE Gene

genes like me logo Genes that share pathways with BCHE: view

Gene Ontology (GO) - Biological Process for BCHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008285 negative regulation of cell proliferation IEA --
GO:0014016 neuroblast differentiation IEA --
GO:0019695 choline metabolic process IEA --
GO:0044267 cellular protein metabolic process TAS --
GO:0050783 cocaine metabolic process TAS 8622553
genes like me logo Genes that share ontologies with BCHE: view

No data available for SIGNOR curated interactions for BCHE Gene

Drugs & Compounds for BCHE Gene

(120) Drugs for BCHE Gene - From: DrugBank, PharmGKB, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bambuterol Approved Pharma agonist, Enzyme, substrate, inhibitor 4
Echothiophate Approved Pharma inhibitor, Target 1
Rivastigmine Approved, Investigational Pharma inhibitor, Target 82
Succinylcholine Approved Pharma Full agonist, Agonist, Enzyme, substrate 147
Demecarium Approved Pharma inhibitor, Target 0

(87) Additional Compounds for BCHE Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
506-30-9
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4
Heptadecanoic acid
  • Heptadecanoate
  • Heptadecanoic acid
  • Margarate
  • Margaric acid
  • Margarinate
506-12-7
Heptadecanoyl CoA
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid coa
  • Heptadecanoyl coenzyme A
  • Heptadecanoyl-coA
3546-17-6
Pentadecanoic acid
  • N-Pentadecanoate
  • N-Pentadecanoic acid
  • N-Pentadecylate
  • N-Pentadecylic acid
  • Pentadecanoate
1002-84-2

(5) Tocris Compounds for BCHE Gene

Compound Action Cas Number
Ambenonium dichloride Cholinesterase inhibitor 115-79-7
Galanthamine hydrobromide Cholinesterase inhibitor 1953-04-4
Phenserine Cholinesterase inhibitor 101246-66-6
Physostigmine hemisulfate Cholinesterase inhibitor 64-47-1
Tacrine hydrochloride Cholinesterase inhibitor 1684-40-8
genes like me logo Genes that share compounds with BCHE: view

Transcripts for BCHE Gene

Unigene Clusters for BCHE Gene

Butyrylcholinesterase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BCHE Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1: -
SP2: -
SP3: - -
SP4: - - -

Relevant External Links for BCHE Gene

GeneLoc Exon Structure for
BCHE
ECgene alternative splicing isoforms for
BCHE

Expression for BCHE Gene

mRNA expression in normal human tissues for BCHE Gene

mRNA differential expression in normal tissues according to GTEx for BCHE Gene

This gene is overexpressed in Fallopian Tube (x5.7), Liver (x5.5), Esophagus - Muscularis (x4.4), and Esophagus - Gastroesophageal Junction (x4.0).

Protein differential expression in normal tissues from HIPED for BCHE Gene

This gene is overexpressed in Serum (34.6), Plasma (13.4), and Synovial fluid (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BCHE Gene



SOURCE GeneReport for Unigene cluster for BCHE Gene Hs.420483

mRNA Expression by UniProt/SwissProt for BCHE Gene

P06276-CHLE_HUMAN
Tissue specificity: Detected in blood plasma (at protein level). Present in most cells except erythrocytes.
genes like me logo Genes that share expression patterns with BCHE: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for BCHE Gene

Orthologs for BCHE Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BCHE Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BCHE 35
  • 90.14 (n)
  • 89.7 (a)
BCHE 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BCHE 35
  • 89.26 (n)
  • 86.71 (a)
BCHE 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bche 35
  • 80.91 (n)
  • 80.3 (a)
Bche 16
Bche 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BCHE 35
  • 99.5 (n)
  • 99.17 (a)
BCHE 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bche 35
  • 81.51 (n)
  • 79.93 (a)
oppossum
(Monodelphis domestica)
Mammalia BCHE 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCHE 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCHE 35
  • 73.19 (n)
  • 72.01 (a)
BCHE 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCHE 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495889 35
  • 69.16 (n)
  • 65.72 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ace 37
  • 37 (a)
alpha-Est10 37
  • 29 (a)
alpha-Est2 37
  • 28 (a)
alpha-Est3 37
  • 39 (a)
alpha-Est4 37
  • 28 (a)
alpha-Est5 37
  • 25 (a)
alpha-Est6 37
  • 27 (a)
alpha-Est7 37
  • 30 (a)
alpha-Est8 37
  • 36 (a)
alpha-Est9 37
  • 29 (a)
BcDNA:GH05741 37
  • 29 (a)
CG10175 37
  • 28 (a)
CG3841 37
  • 35 (a)
CG4382 37
  • 29 (a)
CG5397 37
  • 27 (a)
CG6018 37
  • 40 (a)
CG6414 37
  • 30 (a)
CG7529 37
  • 30 (a)
CG8424 37
  • 30 (a)
clt 37
  • 28 (a)
Est-6 37
  • 32 (a)
Est-P 37
  • 34 (a)
Gli 37
  • 30 (a)
Jhe 37
  • 29 (a)
Ace 36
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ace-1 37
  • 40 (a)
ace-2 37
  • 37 (a)
ace-3 37
  • 37 (a)
ace-4 37
  • 39 (a)
B0238.1 37
  • 30 (a)
B0238.13 37
  • 37 (a)
B0238.7 37
  • 30 (a)
C52A10.1 37
  • 31 (a)
C52A10.2 37
  • 30 (a)
F07C4.12 37
  • 29 (a)
F13H6.3 37
  • 32 (a)
F15A8.6 37
  • 28 (a)
F55D10.3 37
  • 29 (a)
ges-1 37
  • 29 (a)
K07C11.4 37
  • 29 (a)
K11G9.1 37
  • 31 (a)
K11G9.2 37
  • 30 (a)
K11G9.3 37
  • 30 (a)
R173.3 37
  • 42 (a)
T02B5.1 37
  • 23 (a)
T02B5.3 37
  • 26 (a)
T07H6.1a 37
  • 40 (a)
T28C12.4a 37
  • 29 (a)
T28C12.4b 37
  • 29 (a)
T28C12.5 37
  • 37 (a)
Y71H2AM.13 37
  • 28 (a)
Y75B8A.3 37
  • 36 (a)
ace-1 36
  • 40 (a)
ManyToMany
ace-2 36
  • 34 (a)
ManyToMany
ace-3 36
  • 34 (a)
ManyToMany
ace-4 36
  • 35 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06573 35
  • 41.93 (n)
  • 32.88 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToMany
Species with no ortholog for BCHE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for BCHE Gene

ENSEMBL:
Gene Tree for BCHE (if available)
TreeFam:
Gene Tree for BCHE (if available)

Paralogs for BCHE Gene

Paralogs for BCHE Gene

genes like me logo Genes that share paralogs with BCHE: view

Variants for BCHE Gene

Sequence variations from dbSNP and Humsavar for BCHE Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1799807 Butyrylcholinesterase deficiency (BChE deficiency) 165,830,741(-) CATAG(A/G)TCAAA reference, missense
rs121918557 Butyrylcholinesterase deficiency (BChE deficiency) 165,829,962(-) CTTTT(A/T)TAGTC reference, missense
rs1803274 Butyrylcholinesterase deficiency (BChE deficiency) 165,773,492(-) ATGAA(A/G)CAGAA reference, missense
rs56309853 Butyrylcholinesterase deficiency (BChE deficiency) 165,830,879(+) TTACC(A/G/T)TGCCA reference, missense
VAR_040013 Butyrylcholinesterase deficiency (BChE deficiency)

Structural Variations from Database of Genomic Variants (DGV) for BCHE Gene

Variant ID Type Subtype PubMed ID
nsv428426 CNV Loss 18775914
nsv877934 CNV Gain 21882294
dgv5339n71 CNV Loss 21882294
esv2657931 CNV Deletion 23128226
nsv877936 CNV Loss 21882294
dgv5340n71 CNV Loss 21882294
dgv5341n71 CNV Loss 21882294
esv268149 CNV Insertion 20981092
nsv520596 CNV Gain+Loss 19592680
nsv877942 CNV Gain+Loss 21882294

Variation tolerance for BCHE Gene

Residual Variation Intolerance Score: 81.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.64; 82.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BCHE Gene

HapMap Linkage Disequilibrium report
BCHE
Human Gene Mutation Database (HGMD)
BCHE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCHE Gene

Disorders for BCHE Gene

MalaCards: The human disease database

(16) MalaCards diseases for BCHE Gene - From: GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pseudocholinesterase deficiency
  • apnea, postanesthetic
cocaine intoxication
curariform drugs toxicity
vascular dementia
  • multi infarct dementia
functional colonic disease
  • colonic diseases, functional
- elite association - COSMIC cancer census association via MalaCards
Search BCHE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHLE_HUMAN
  • Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]: A metabolic disorder characterized by prolonged apnea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency. {ECO:0000269 PubMed:10404729, ECO:0000269 PubMed:11928765, ECO:0000269 PubMed:12881446, ECO:0000269 PubMed:1306123, ECO:0000269 PubMed:1349196, ECO:0000269 PubMed:1415224, ECO:0000269 PubMed:15563885, ECO:0000269 PubMed:15781196, ECO:0000269 PubMed:1611188, ECO:0000269 PubMed:16788378, ECO:0000269 PubMed:17700357, ECO:0000269 PubMed:18075469, ECO:0000269 PubMed:18300943, ECO:0000269 PubMed:25054547, ECO:0000269 PubMed:25264279, ECO:0000269 PubMed:2915989, ECO:0000269 PubMed:7634491, ECO:0000269 PubMed:8554068, ECO:0000269 PubMed:8680411, ECO:0000269 PubMed:9110359, ECO:0000269 PubMed:9191541, ECO:0000269 PubMed:9388484, ECO:0000269 PubMed:9543549, ECO:0000269 PubMed:9694584}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for BCHE Gene

apnea,postanesthetic,suxamethonium sensitivity,hypocholinesterasemia or acholinesterasemia

Relevant External Links for BCHE

Genetic Association Database (GAD)
BCHE
Human Genome Epidemiology (HuGE) Navigator
BCHE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCHE
genes like me logo Genes that share disorders with BCHE: view

Publications for BCHE Gene

  1. Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India. (PMID: 16788378) Manoharan I. … Boopathy R. (Pharmacogenet. Genomics 2006) 3 4 23 48 67
  2. Interaction of human butyrylcholinesterase variants with bambuterol and terbutaline. (PMID: 15449725) Kovarik Z. … Simeon-Rudolf V. (J Enzyme Inhib Med Chem 2004) 3 23 25 26
  3. In vitro reactivation of trichlorfon-inhibited butyrylcholinesterase using HI-6, obidoxime, pralidoxime and K048. (PMID: 18825528) Pohanka M. … Kuca K. (J Enzyme Inhib Med Chem 2009) 23 25 26
  4. Rivastigmine in Parkinson's disease dementia. (PMID: 18671661) Lalli S. … Albanese A. (Expert Rev Neurother 2008) 23 25 26
  5. Malathion, carbofuran and paraquat inhibit Bungarus sindanus (krait) venom acetylcholinesterase and human serum butyrylcholinesterase in vitro. (PMID: 17364237) Ahmed M. … Schetinger M.R. (Ecotoxicology 2007) 23 25 26

Products for BCHE Gene

Sources for BCHE Gene

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