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FLASH GENE

Symbol

BCHE

contributors: mct/npt - updated : 21-12-2009

HGNC name	butyrylcholinesterase
HGNC id	983

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000055 4 - 2461 NP_000046 - 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)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive liver       highly Reproductive female system uterus     highly   male system prostate

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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