• Gene id: 590

Gene Summary

• Gene Symbol: BCHE   Gene   UCSC   Ensembl
• Aliases: BCHED, 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 (165837422: 165772903)     Exons: 13     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
• 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: 68418
  • 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
  • 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 5NN0 6EMI 6EP4 6EQP 6EQQ 6ESJ 6ESY 6EUL 6EYF 6EZ2 6F7Q 6I0B 6I0C 6I2T 6QAA 6QAB 6QAC 6QAD 6QA
  • 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 5NN0 6EMI 6EP4 6EQP 6EQQ 6ESJ 6ESY 6EUL 6EYF 6EZ2 6F7Q 6I0B 6I0C 6I2T 6QAA 6QAB 6QAC 6QAD 6QA
  • DIP: 46476
  • STRING: ENSP00000264381
• Other Databases: GeneCards:  BCHE  Malacards:  BCHE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004104	cholinesterase activity	IDA	molecular function
GO:0003990	acetylcholinesterase activity	ISS	molecular function
GO:0004104	cholinesterase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0052689	carboxylic ester hydrolase activity	IEA	molecular function
GO:0004104	cholinesterase activity	TAS	molecular function
GO:0004104	cholinesterase activity	IEA	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007612	learning	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0019695	choline metabolic process	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0050805	negative regulation of synaptic transmission	IEA	biological process
GO:0005641	nuclear envelope lumen	IEA	cellular component
GO:0004104	cholinesterase activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0007584	response to nutrient	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0014016	neuroblast differentiation	IEA	biological process
GO:0033265	choline binding	IEA	molecular function
GO:0043279	response to alkaloid	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0051593	response to folic acid	IEA	biological process
GO:0003990	acetylcholinesterase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0072562	blood microparticle	HDA	cellular component
GO:0050783	cocaine metabolic process	TAS	biological process
GO:0001540	amyloid-beta binding	NAS	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0019899	enzyme binding	NAS	molecular function
GO:0003824	catalytic activity	NAS	molecular function

Diseases

Associated diseases	References
Primary progressive multiple sclerosis	PMID:20122907
Alzheimer's disease	PMID:16973370
Alzheimer's disease	PMID:22012848
Hypertension	PMID:12387587
Familial hyperlipidemia	PMID:15219807
Huntington's disease	PMID:2953866
Dementia	PMID:2953866
epilepsy	PMID:7634486
Coronary artery disease	PMID:17852836
Coronary restenosis	PMID:17275003
Schizophrenia	PMID:22123563
Dystonia	PMID:2953866
inherited metabolic disorder	PMID:9694584
type 2 diabetes mellitus	PMID:16442234
type 2 diabetes mellitus	PMID:11793025
type 1 diabetes mellitus	PMID:17026497
Cryptorchidism	MIK: 21412036
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq