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Gene id

590

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

BCHE Gene UCSC Ensembl

Aliases

CHE1, CHE2, E1

Gene name

butyrylcholinesterase

Alternate names

cholinesterase, acylcholine acylhydrolase, butyrylcholine esterase, choline esterase II, cholinesterase (serum) 2, cholinesterase 1, pseudocholinesterase,

Gene location

3q26.1 (165837466: 165772903) Exons: 4 NC_000003.12

Gene summary(Entrez)

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 and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]

OMIM

177400

Protein Summary

Protein general information

P06276

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

Length: 602 Mass: 68,418

Tissue specificity: Detected in blood plasma (at protein level). Present in most cells except erythrocytes. {ECO

Sequence

MHSKVTIICIRFLFWFLLLCMLIGKSHTEDDIIIATKNGKVRGMNLTVFGGTVTAFLGIPYAQPPLGRLRFKKPQ
SLTKWSDIWNATKYANSCCQNIDQSFPGFHGSEMWNPNTDLSEDCLYLNVWIPAPKPKNATVLIWIYGGGFQTGT
SSLHVYDGKFLARVERVIVVSMNYRVGALGFLALPGNPEAPGNMGLFDQQLALQWVQKNIAAFGGNPKSVTLFGE
SAGAASVSLHLLSPGSHSLFTRAILQSGSFNAPWAVTSLYEARNRTLNLAKLTGCSRENETEIIKCLRNKDPQEI
LLNEAFVVPYGTPLSVNFGPTVDGDFLTDMPDILLELGQFKKTQILVGVNKDEGTAFLVYGAPGFSKDNNSIITR
KEFQEGLKIFFPGVSEFGKESILFHYTDWVDDQRPENYREALGDVVGDYNFICPALEFTKKFSEWGNNAFFYYFE
HRSSKLPWPEWMGVMHGYEIEFVFGLPLERRDNYTKAEEILSRSIVKRWANFAKYGNPNETQNNSTSWPVFKSTE
QKYLTLNTESTRIMTKLRAQQCRFWTSFFPKVLEMTGNIDEAEWEWKAGFHRWNNYMMDWKNQFNDYTSKKESCV
GL

Structural information

Interpro:	IPR029058 IPR014788 IPR002018 IPR019826 IPR019819 IPR000997
Prosite:	PS00122 PS00941
Pfam:	PF08674 PF00135
PDB:	1EHO 1EHQ 1KCJ 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
PDBsum:	1EHO 1EHQ 1KCJ 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
DIP:	46476
STRING:	ENSP00000264381;

Other Databases

GeneCards: BCHE; Malacards: BCHE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001540	beta-amyloid binding	NAS	molecular_function
GO:0003824	catalytic activity	NAS	molecular_function
GO:0003990	acetylcholinesterase acti vity	ISS	molecular_function
GO:0004104	cholinesterase activity	IDA	molecular_function
GO:0005576	extracellular region	NAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005641	nuclear envelope lumen	IEA	cellular_component
GO:0005788	endoplasmic reticulum lum en	IEA	cellular_component
GO:0007612	learning	IEA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0014016	neuroblast differentiatio n	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016788	hydrolase activity, actin g on ester bonds	TAS	molecular_function
GO:0019695	choline metabolic process	IEA	biological_process
GO:0019899	enzyme binding	NAS	molecular_function
GO:0033265	choline binding	IEA	molecular_function
GO:0042493	response to drug	IEA	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0043279	response to alkaloid	IEA	biological_process
GO:0050783	cocaine metabolic process	TAS	biological_process
GO:0050805	negative regulation of sy naptic transmission	IEA	biological_process
GO:0051384	response to glucocorticoi d	IEA	biological_process
GO:0051593	response to folic acid	IEA	biological_process
GO:0072562	blood microparticle	IDA	cellular_component
GO:0001540	beta-amyloid binding	NAS	molecular_function
GO:0003824	catalytic activity	NAS	molecular_function
GO:0003990	acetylcholinesterase acti vity	IEA	molecular_function
GO:0003990	acetylcholinesterase acti vity	ISS	molecular_function
GO:0004104	cholinesterase activity	IEA	molecular_function
GO:0004104	cholinesterase activity	IEA	molecular_function
GO:0004104	cholinesterase activity	IEA	molecular_function
GO:0004104	cholinesterase activity	IDA	molecular_function
GO:0004104	cholinesterase activity	TAS	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	NAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005641	nuclear envelope lumen	IEA	cellular_component
GO:0005783	endoplasmic reticulum	IEA	cellular_component
GO:0005788	endoplasmic reticulum lum en	IEA	cellular_component
GO:0007584	response to nutrient	IEA	biological_process
GO:0007612	learning	IEA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0014016	neuroblast differentiatio n	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0016788	hydrolase activity, actin g on ester bonds	TAS	molecular_function
GO:0019695	choline metabolic process	IEA	biological_process
GO:0019899	enzyme binding	NAS	molecular_function
GO:0033265	choline binding	IEA	molecular_function
GO:0042493	response to drug	IEA	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0043279	response to alkaloid	IEA	biological_process
GO:0050783	cocaine metabolic process	TAS	biological_process
GO:0050805	negative regulation of sy naptic transmission	IEA	biological_process
GO:0051384	response to glucocorticoi d	IEA	biological_process
GO:0051593	response to folic acid	IEA	biological_process
GO:0052689	carboxylic ester hydrolas e activity	IEA	molecular_function
GO:0072562	blood microparticle	IDA	cellular_component
GO:0001540	beta-amyloid binding	NAS	molecular_function
GO:0003824	catalytic activity	NAS	molecular_function
GO:0003990	acetylcholinesterase acti vity	ISS	molecular_function
GO:0004104	cholinesterase activity	IDA	molecular_function
GO:0004104	cholinesterase activity	TAS	molecular_function
GO:0005576	extracellular region	NAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0016788	hydrolase activity, actin g on ester bonds	TAS	molecular_function
GO:0019899	enzyme binding	NAS	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0050783	cocaine metabolic process	TAS	biological_process
GO:0072562	blood microparticle	IDA	cellular_component

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 11436125
Atherosclerosis	PMID: 12074828
Cerebral amyloid angiopathy	PMID: 9836756
Dementia	PMID: 15802910
Diabetes	PMID: 11793025
Endometriosis	PMID: 9102363
Neuropathy	PMID: 11849755
Endometriosis	INFBASE9102363

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
9102363	Endometrio sis					AMY1 AMY2 ACP1 PGM1 SOD-A ESD GLO1 C3 TF PGM1	Show abstract