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Aliases for BCHE Gene

Aliases for BCHE Gene

  • Butyrylcholinesterase 2 3
  • CHE1 3 4 6
  • 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
  • Cholinesterase 3
  • EC 3.1.1 63
  • CHE2 3
  • E1 3

External Ids for BCHE Gene

Previous Symbols for BCHE Gene

  • CHE1
  • CHE2

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 curariform drugs toxicity. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include identical protein binding. 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 (BChE) 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

Genomic Location for BCHE Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BCHE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCHE Gene

Regulatory Elements 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.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn45, Asn85, Asn134, Asn269, Asn284, Asn369, Asn483, Asn509, Asn513, and Asn514

Other Protein References for BCHE Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for BCHE Gene

Suggested Antigen Peptide Sequences for BCHE Gene

Graphical View of Domain Structure for InterPro Entry

P06276

UniProtKB/Swiss-Prot:

CHLE_HUMAN
Family:
  • Belongs to the type-B carboxylesterase/lipase family.:
    • P06276
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:0003824 catalytic activity NAS 11569538
GO:0003990 acetylcholinesterase activity ISS --
GO:0004104 cholinesterase activity IDA 19452557
GO:0016787 hydrolase activity --
genes like me logo Genes that share ontologies with BCHE: view
genes like me logo Genes that share phenotypes with BCHE: view

Animal Models for BCHE Gene

MGI Knock Outs for BCHE:

miRNA for BCHE Gene

miRTarBase miRNAs that target BCHE

No data available for Transcription Factor Targeting 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 3
cytoskeleton 2
mitochondrion 2
nucleus 2
plasma membrane 2
cytosol 1
golgi apparatus 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for BCHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space --
GO:0005641 nuclear envelope lumen IEA --
GO:0005783 endoplasmic reticulum --
GO:0005788 endoplasmic reticulum lumen IEA --
genes like me logo Genes that share ontologies with BCHE: view

Pathways for BCHE Gene

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

Pathways by source for BCHE Gene

Gene Ontology (GO) - Biological Process for BCHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007271 synaptic transmission, cholinergic --
GO:0007584 response to nutrient --
GO:0007612 learning IEA --
GO:0008152 metabolic process --
GO:0008285 negative regulation of cell proliferation IEA --
genes like me logo Genes that share ontologies with BCHE: view

Compounds for BCHE Gene

(5) Tocris Compounds for BCHE Gene

Compound Action Cas Number
Acephate Anticholinesterase insecticide [30560-19-1]
Donepezil hydrochloride Potent AChE inhibitor [120011-70-3]
Galanthamine hydrobromide Cholinesterase inhibitor [1953-04-4]
Phenserine Cholinesterase inhibitor [101246-66-6]
Rivastigmine tartrate Dual AChE and BChE inhibitor [129101-54-8]

(13) HMDB Compounds for BCHE Gene

Compound Synonyms Cas Number PubMed IDs
Acetylcholine
  • ACh
51-84-3
Arachidic acid
  • Arachate
506-30-9
Arachidonic acid
  • 5,8,11,14-Eicosatetraenoic acid
506-32-1
Choline
  • (2-Hydroxyethyl)trimethyl ammonium
62-49-7
Donepezil
  • Aricept
120014-06-4

(144) Novoseek inferred chemical compound relationships for BCHE Gene

Compound -log(P) Hits PubMed IDs
butyrylthiocholine 95.4 33
butyrylcholine 92.4 20
benzoylcholine 91.6 7
o-nitrophenyl butyrate 89.2 2
rivastigmine 88.6 53

(1) PharmGKB related drug/compound annotations for BCHE Gene

Drug/compound Annotation
succinylcholine CA
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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Fallopian Tube (5.7), Liver (5.5), Esophagus - Muscularis (4.4), and Esophagus - Gastroesophageal Junction (4.0).

Integrated Proteomics: protein expression 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 expressions with BCHE: view

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
chimpanzee
(Pan troglodytes)
Mammalia BCHE 35
  • 99.5 (n)
  • 99.17 (a)
BCHE 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia BCHE 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCHE 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bche 35
  • 81.51 (n)
  • 79.93 (a)
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 36
  • 34 (a)
OneToMany
CG7529 37
  • 30 (a)
alpha-Est2 37
  • 28 (a)
alpha-Est5 37
  • 25 (a)
Est-6 37
  • 32 (a)
CG6414 37
  • 30 (a)
alpha-Est8 37
  • 36 (a)
CG6018 37
  • 40 (a)
CG3841 37
  • 35 (a)
CG4382 37
  • 29 (a)
alpha-Est6 37
  • 27 (a)
alpha-Est3 37
  • 39 (a)
CG8424 37
  • 30 (a)
CG5397 37
  • 27 (a)
CG10175 37
  • 28 (a)
Ace 37
  • 37 (a)
BcDNA:GH05741 37
  • 29 (a)
Est-P 37
  • 34 (a)
Gli 37
  • 30 (a)
Jhe 37
  • 29 (a)
alpha-Est10 37
  • 29 (a)
alpha-Est4 37
  • 28 (a)
alpha-Est9 37
  • 29 (a)
clt 37
  • 28 (a)
alpha-Est7 37
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea ace-1 36
  • 40 (a)
ManyToMany
ace-2 36
  • 34 (a)
ManyToMany
ace-3 36
  • 34 (a)
ManyToMany
ace-4 36
  • 35 (a)
ManyToMany
T28C12.5 37
  • 37 (a)
F55D10.3 37
  • 29 (a)
K11G9.1 37
  • 31 (a)
ace-4 37
  • 39 (a)
T02B5.3 37
  • 26 (a)
F15A8.6 37
  • 28 (a)
C52A10.2 37
  • 30 (a)
Y75B8A.3 37
  • 36 (a)
B0238.13 37
  • 37 (a)
T28C12.4a 37
  • 29 (a)
ace-3 37
  • 37 (a)
K11G9.2 37
  • 30 (a)
R173.3 37
  • 42 (a)
ace-1 37
  • 40 (a)
ges-1 37
  • 29 (a)
B0238.7 37
  • 30 (a)
B0238.1 37
  • 30 (a)
ace-2 37
  • 37 (a)
T28C12.4b 37
  • 29 (a)
Y71H2AM.13 37
  • 28 (a)
K07C11.4 37
  • 29 (a)
C52A10.1 37
  • 31 (a)
K11G9.3 37
  • 30 (a)
T02B5.1 37
  • 23 (a)
F07C4.12 37
  • 29 (a)
T07H6.1a 37
  • 40 (a)
F13H6.3 37
  • 32 (a)
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 MAF
rs3495 -- 165,773,193(-) AGAAC(A/G)TGTTT utr-variant-3-prime
rs829500 -- 165,782,621(-) CTTAG(A/G)CTTTG intron-variant
rs829501 -- 165,782,447(-) GAACT(C/G)AAAAA intron-variant
rs829502 -- 165,781,469(-) ttagt(C/T)tgctg intron-variant
rs829503 -- 165,780,114(-) gttgt(A/C)gatgt intron-variant

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

Relevant External Links for BCHE Gene

HapMap Linkage Disequilibrium report
BCHE
Human Gene Mutation Database (HGMD)
BCHE
Locus Specific Mutation Databases (LSDB)
BCHE

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

Disorders for BCHE Gene

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.

(71) Novoseek inferred disease relationships for BCHE Gene

Disease -log(P) Hits PubMed IDs
pseudocholinesterase deficiency 92.9 26
alzheimers disease 77.1 113
poisoning 65.9 24
cocaine intoxication 56.2 4
dementia 53.7 31

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

Publications for BCHE Gene

  1. Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. (PMID: 12881446) Yen T. … Stewart P.M. (Clin. Chem. 2003) 3 4 23 48
  2. Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample. (PMID: 15781196) Souza R.L. … Chautard-Freire-Maia E.A. (Mol. Genet. Metab. 2005) 3 4 23 48
  3. 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
  4. The k variant of the butyrylcholinesterase gene is associated with reduced phosphorylation of tau in dementia patients. (PMID: 15802910) Ballard C. … Perry E. (Dement Geriatr Cogn Disord 2005) 3 23 48
  5. Genetic risk for restenosis after coronary stenting. (PMID: 17275003) Oguri M. … Yamada Y. (Atherosclerosis 2007) 3 23 48

Products for BCHE Gene

Sources for BCHE Gene

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