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FLASH GENE
Symbol BCHE contributors: mct/npt - updated : 21-12-2009
HGNC name butyrylcholinesterase
HGNC id 983
Corresponding disease
BCHE apnea, postanesthetic, suxamethonium sensitivity
Location 3q26.1      Physical location : 165.490.693 - 165.555.253
Synonym name
  • choline esterase II
  • acylcholine acylhydrolase
    • Synonym symbol(s) CHE1, E1
    EC.number 3.1.1.8
    DNA
    TYPE functioning gene
    STRUCTURE 64.56 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Physical map
    SI 3q25.2-q26.2 sucrase-isomaltase SLITRK3 3q26.1 SLIT and NTRK-like family, member 3 BCHE 3q26.1-q26.2 butyrylcholinesterase LOC389173 3 similar to phosphoserine aminotransferase isoform 1 LOC285320 3q26.2 similar to heterochromatin-specific nonhistone protein LOC131055 3q26.2 similar to peptidyl-Pro cis trans isomerase FLJ23049 3q26.2 hypothetical protein FLJ23049 SERPINI2 3q26.1-q26.2 serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2 FLJ33620 3q26.2 hypothetical protein FLJ33620 PDCD10 3q26.2 programmed cell death 10 SERPINI1 3q26.31 serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1 GOLPH4 3q26 Golgi phosphoprotein 4 LOC389174 3 LOC389174 LOC253820 3q26.2-q26.31 similar to MEGF6 LOC93556 3q26.31 hypothetical protein BC011266 EVI1 3q26 ecotropic viral integration site 1 MDS1 3q21-q26 myelodysplasia syndrome 1 LOC389175 3 similar to ribosomal protein L22 LOC285262 3q26.31 similar to Succinate dehydrogenase [ubiquinone] cytochrome B small subunit, mitochondrial precursor (CybS) (Succinate-ubiquinone reductase membrane anchor subunit) (QPS2) (CII-4) (Succinate dehydrogenase complex subunit D) (Succinat TERC 3q26 telomerase RNA component ARPM1 3q26.31 actin related protein M1 MYNN 3p21.3-q25.2 myoneurin MGC27085 3q26.31 hypothetical protein MGC27085 LOC344657 3q26.31 similar to RIKEN cDNA 4930558O21 FLJ23259 3q26.31 hypothetical protein FLJ23259 LOC151825 3q26.31 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 2461 - 602 - Ghebremedhin (2007)
  • also called BCHE-K
  • presence of the K variant associated with the severity of Alzheimer disease (AD)-related neurofibrillary tangles (NFT) and amyloid beta-protein (Abeta)
    		•
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver   highly
    Reproductivefemale systemuterus  highly
     male systemprostate   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion serum
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    mono polymer homomer , tetramer
    isoforms Precursor
    HOMOLOGY
    interspecies homolog to murine Bche
    Homologene
    FAMILY
  • type-B carboxylesterase/lipase family
    • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • hydrolyze choline esters
  • butyryl cholinesterase, ApoE4 carrier, regulator of myeloid cells
  • scavenger against organophosphorus and carbamate componds of the pesticides and cocaine
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • four identical subunits, each containing an active catalytic site
  • two dimers linked by a disulfide bond
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BCHE
    related resource ESTHERwebserver
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in apnea following the administration of the surgical muscle-relaxant succinylcholine
    tumoral fusion      
    dysregulated in myelogenous disorders
    Susceptibility to cocaine poisoning
    Variant & Polymorphism other
  • contradictory evidence for association of the K variant with late onset Alzheimer disease
  • mutations that reduce serum BCHE activity increasing the risk for cocaine poisoning
  • homozygosity, but not heterozygosity, for BCHE-K is a potential risk factor for the development of neurofibrillary tangles pathology in young individuals implicating BCHE-K in the pathogenesis of early AD (Ghebremedhin 2007)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS