Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	590
Gene name Gene Name - the full gene name approved by the HGNC.	Butyrylcholinesterase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BCHE
Synonyms (NCBI Gene) Gene synonyms aliases	BCHED, CHE1, CHE2, E1
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q26.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents

Show/Hide all(52)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1799807	T>C	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs3732880	G>A	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs28933389	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant
rs28933390	C>A,G,T	Pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, missense variant, coding sequence variant
rs104893684	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs114706984	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs115129687	C>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs115624085	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs121918556	T>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918557	A>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs121918558	T>A,C,G	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs140080572	C>A	Likely-pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs199660374	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs201820739	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs398124632	A>CT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs527843566	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs568724445	C>A,T	Likely-pathogenic	Non coding transcript variant, stop gained, missense variant, intron variant, coding sequence variant
rs745364489	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs746209182	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant, stop gained
rs747196387	C>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant, non coding transcript variant
rs747983616	AG>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs750309713	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs751910853	A>G	Drug-response	Non coding transcript variant, initiator codon variant, intron variant, missense variant
rs754214624	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs760182781	G>A,C,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, stop gained, intron variant
rs760485585	A>T	Conflicting-interpretations-of-pathogenicity	Stop gained, non coding transcript variant, coding sequence variant
rs762189020	C>-	Likely-pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs762341786	G>C,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, stop gained, intron variant
rs772259613	TTTC>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs778568717	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs779366544	T>C	Likely-pathogenic	Splice acceptor variant
rs990121358	G>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant, stop gained
rs1057516450	->A	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1057516482	C>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057516496	C>A,T	Likely-pathogenic	Splice donor variant
rs1057516707	C>-	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1057516784	AA>-	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1057517144	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057517208	G>A	Likely-pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1057517218	C>A	Likely-pathogenic	Intron variant, splice donor variant
rs1057517221	C>A	Likely-pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1057517265	G>A	Likely-pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1057517288	G>-	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1057517439	T>-	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1278095773	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1553778017	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant
rs1553778044	->A	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553778114	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant
rs1553778179	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553778185	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553778198	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553778291	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018332	hsa-miR-335-5p	Microarray	18185580
MIRT029814	hsa-miR-26b-5p	Microarray	19088304
MIRT818001	hsa-miR-1275	CLIP-seq
MIRT818002	hsa-miR-1279	CLIP-seq
MIRT818003	hsa-miR-181a	CLIP-seq
MIRT818004	hsa-miR-181b	CLIP-seq
MIRT818005	hsa-miR-181c	CLIP-seq
MIRT818006	hsa-miR-181d	CLIP-seq
MIRT818007	hsa-miR-3146	CLIP-seq
MIRT818008	hsa-miR-3148	CLIP-seq
MIRT818009	hsa-miR-4260	CLIP-seq
MIRT818010	hsa-miR-4262	CLIP-seq
MIRT818011	hsa-miR-4665-5p	CLIP-seq
MIRT818012	hsa-miR-4668-5p	CLIP-seq
MIRT818013	hsa-miR-4775	CLIP-seq
MIRT818014	hsa-miR-489	CLIP-seq
MIRT818015	hsa-miR-548ae	CLIP-seq
MIRT818016	hsa-miR-548aj	CLIP-seq
MIRT818017	hsa-miR-548am	CLIP-seq
MIRT818018	hsa-miR-548x	CLIP-seq
MIRT818019	hsa-miR-590-3p	CLIP-seq
MIRT818020	hsa-miR-625	CLIP-seq
MIRT818013	hsa-miR-4775	CLIP-seq
MIRT818019	hsa-miR-590-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	NAS	11569538
GO:0003824	Function	Catalytic activity	NAS	11569538
GO:0003990	Function	Acetylcholinesterase activity	IBA
GO:0003990	Function	Acetylcholinesterase activity	IEA
GO:0003990	Function	Acetylcholinesterase activity	ISS
GO:0004104	Function	Cholinesterase activity	IDA	19452557
GO:0004104	Function	Cholinesterase activity	IEA
GO:0004104	Function	Cholinesterase activity	TAS	2339692
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005641	Component	Nuclear envelope lumen	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0006581	Process	Acetylcholine catabolic process	IBA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0007584	Process	Response to nutrient	IEA
GO:0007612	Process	Learning	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0014016	Process	Neuroblast differentiation	IEA
GO:0016486	Process	Peptide hormone processing	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016788	Function	Hydrolase activity, acting on ester bonds	TAS
GO:0019695	Process	Choline metabolic process	IBA
GO:0019695	Process	Choline metabolic process	IEA
GO:0019899	Function	Enzyme binding	NAS	11569538
GO:0033265	Function	Choline binding	IEA
GO:0042802	Function	Identical protein binding	IPI	17660298, 20883446, 21059932, 22726956
GO:0043279	Process	Response to alkaloid	IEA
GO:0050783	Process	Cocaine metabolic process	TAS	8622553
GO:0050805	Process	Negative regulation of synaptic transmission	IEA
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0051593	Process	Response to folic acid	IEA
GO:0052689	Function	Carboxylic ester hydrolase activity	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433

MIM	HGNC	e!Ensembl
177400	983	ENSG00000114200

Protein

UniProt ID

P06276

Protein name

Cholinesterase (EC 3.1.1.8) (Acylcholine acylhydrolase) (Butyrylcholine esterase) (Choline esterase II) (Pseudocholinesterase)

Protein function

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

PDB

1P0I , 1P0M , 1P0P , 1P0Q , 1XLU , 1XLV , 1XLW , 2J4C , 2PM8 , 2WID , 2WIF , 2WIG , 2WIJ , 2WIK , 2WIL , 2WSL , 2XMB , 2XMC , 2XMD , 2XMG , 2XQF , 2XQG , 2XQI , 2XQJ , 2XQK , 2Y1K , 3DJY , 3DKK , 3O9M , 4AQD , 4AXB , 4B0O , 4B0P , 4BBZ , 4BDS , 4TPK , 4XII , 5DYT , 5DYW , 5DYY , 5K5E , 5LKR , 5NN0 , 6EMI , 6EP4 , 6EQP , 6EQQ , 6ESJ , 6ESY , 6EYF , 6EZ2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00135	COesterase	30 → 550	Carboxylesterase family	Domain
PF08674	AChE_tetra	565 → 601	Acetylcholinesterase tetramerisation domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in blood plasma (at protein level). Present in most cells except erythrocytes. {ECO:0000269|PubMed:19368529, ECO:0000269|PubMed:19542320}.

Sequence

MHSKVTIICIRFLFWFLLLCMLIGKSHTEDDIIIATKNGKVRGMNLTVFGGTVTAFLGIP
YAQPPLGRLRFKKPQSLTKWSDIWNATKYANSCCQNIDQSFPGFHGSEMWNPNTDLSEDC
LYLNVWIPAPKPKNATVLIWIYGGGFQTGTSSLHVYDGKFLARVERVIVVSMNYRVGALG
FLALPGNPEAPGNMGLFDQQLALQWVQKNIAAFGGNPKSVTLFGESAGAASVSLHLLSPG
SHSLFTRAILQSGSFNAPWAVTSLYEARNRTLNLAKLTGCSRENETEIIKCLRNKDPQEI
LLNEAFVVPYGTPLSVNFGPTVDGDFLTDMPDILLELGQFKKTQILVGVNKDEGTAFLVY
GAPGFSKDNNSIITRKEFQEGLKIFFPGVSEFGKESILFHYTDWVDDQRPENYREALGDV
VGDYNFICPALEFTKKFSEWGNNAFFYYFEHRSSKLPWPEWMGVMHGYEIEFVFGLPLER
RDNYTKAEEILSRSIVKRWANFAKYGNPNETQNNSTSWPVFKSTEQKYLTLNTESTRIMT
KLRAQQCRFWTSFFPKVLEMTGNIDEAEWEWKAGFHRWNNYMMDWKNQFNDYTSKKESCV
GL

Sequence length

602

Interactions

View interactions

	Reactome
			Neurotransmitter clearance Synthesis of PC Synthesis, secretion, and deacylation of Ghrelin

BCHE (butyrylcholinesterase)