ADHDgene Database

Gene Report

Basic Info

Approved Symbol	BCHE
Previous Symbol	CHE1
Symbol Alias	E1
Approved Name	butyrylcholinesterase
Previous Name	cholinesterase 1
Location	3q26.1-q26.2
Position	chr3:165490692-165555260, -
External Links	HGNC: 983 Entrez Gene: 590 Ensembl: ENSG00000114200 UCSC: uc003fem.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Lesch[2011]_1	chr3:166944967-168896272 (NCBI Build 35 (hg17))	1951305	3q26.1	Deletion	De novo

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0004091	carboxylesterase activity	Molecular Function		40

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005615	extracellular space	Cellular Component		126
GO:0005641	nuclear envelope lumen	Cellular Component		2
GO:0005788	endoplasmic reticulum lumen	Cellular Component		33
GO:0007271	synaptic transmission, cholinergic	Biological Process		8
GO:0016020	membrane	Cellular Component		139
GO:0019695	choline metabolic process	Biological Process		3
GO:0019899	enzyme binding	Molecular Function	NAS[11569538]	47
GO:0050783	cocaine metabolic process	Biological Process	TAS[8622553]	1
GO:0003824	catalytic activity	Molecular Function	NAS[11569538]	15
GO:0001540	beta-amyloid binding	Molecular Function	NAS[11569538]	6
GO:0005576	extracellular region	Cellular Component	NAS[14718574]	240
GO:0004104	cholinesterase activity	Molecular Function	IDA[19452557]	3
GO:0003990	acetylcholinesterase activity	Molecular Function		2

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with BCHE (count: 2)

Gene Symbol	Pathway Count	Pathway List
ACHE	10	extracellular space; endoplasmic reticulum lumen; synaptic transmission, cholinergic; membrane; choline metabolic process; beta-amyloid binding; extracellular region; cholinesterase activity; carboxylesterase activity; acetylcholinesterase activity;
APOA1	5	extracellular space; endoplasmic reticulum lumen; enzyme binding; beta-amyloid binding; extracellular region;

Genes shared at least 2 KEGG pathways with BCHE (count: 0)

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Region: chr3:165490692..165555260 View in gBrowse