BCHE基因详情-基因数据库-基因云馆

BCHE (butyrylcholinesterase)

symbol:: BCHE
locus group:: protein-coding gene
location:: 3q26.1
gene_family:
alias symbol:: E1
alias name:: None
entrez id:: 590
ensembl gene id:: ENSG00000114200
ucsc gene id:: uc003fem.5
refseq accession:: NM_000055
hgnc_id:: HGNC:983
approved reserved:: 1986-01-01

3q26.1

BCHE（丁酰胆碱酯酶）是一种重要的水解酶，属于胆碱酯酶基因家族，与乙酰胆碱酯酶（ACHE）同源。它主要分布在肝脏、血浆、神经系统和肌肉组织中，负责分解胆碱酯类化合物，如丁酰胆碱和琥珀酰胆碱，参与神经递质代谢和药物解毒。BCHE的生物学功能包括调节胆碱能信号传递、脂代谢以及某些药物的代谢（如麻醉剂琥珀酰胆碱和可卡因）。其突变可能导致酶活性异常，例如BCHE基因的常见突变（如A539T或D70G）会导致“非典型胆碱酯酶”表型，使患者对肌肉松弛剂极度敏感，延长麻醉恢复时间，甚至引发呼吸衰竭。此外，BCHE活性降低与阿尔茨海默病、心血管疾病和肥胖相关，而过表达可能影响脂代谢稳态或药物清除率。BCHE基因家族（胆碱酯酶家族）的共性是通过水解胆碱酯键调控神经信号和代谢过程。若BCHE表达降低，可能加剧胆碱能功能障碍或药物毒性；过表达则可能加速药物代谢，影响疗效或导致代谢紊乱。研究还发现BCHE与炎症反应和肿瘤进展存在潜在关联，但其机制仍需进一步探索。

中文English

在BCHE轨迹突变等位基因负责琥珀胆碱的灵敏度。纯合子的人维持肌肉松弛剂琥珀胆碱给药后长时间呼吸暂停与外科麻醉连接。血清中假性胆碱酯酶的活性低，其底物的行为是典型的。在没有松弛的，在纯合子是在没有已知的缺点。 [由RefSeq的，2008年7月提供]

OMIM数据库中对BCHE基因的介绍 Wikipedia数据库中对BCHE基因的介绍

BCHE基因的碱基序列：[NCBI]

Loading Gene Browser...

蛋白质序列

1MHSKVTIICI RFLFWFLLLC MLIGKSHTED DIIIATKNGK
41VRGMNLTVFG GTVTAFLGIP YAQPPLGRLR FKKPQSLTKW
81
SDIWNATKY ANSCCQNIDQ SFPGFHGSEM WNPNTDLSED
121CLYLNVWIPA PKPKNATVLI WIYGGGFQTG TSSLHVYDGK
161F
LARVERVI VVSMNYRVGA LGFLALPGNP EAPGNMGLFD
201QQLALQWVQK NIAAFGGNPK SVTLFGESAG AASVSLHLLS
241PG
SHSLFTR AILQSGSFNA PWAVTSLYEA RNRTLNLAKL
281TGCSRENETE IIKCLRNKDP QEILLNEAFV VPYGTPLSVN
321FGP
TVDGDF LTDMPDILLE LGQFKKTQIL VGVNKDEGTA
361FLVYGAPGFS KDNNSIITRK EFQEGLKIFF PGVSEFGKES
401ILFH
YTDWV DDQRPENYRE ALGDVVGDYN FICPALEFTK
441KFSEWGNNAF FYYFEHRSSK LPWPEWMGVM HGYEIEFVFG
481LPLER
RDNY TKAEEILSRS IVKRWANFAK YGNPNETQNN
521STSWPVFKST EQKYLTLNTE STRIMTKLRA QQCRFWTSFF
561PKVLEM
TGN IDEAEWEWKA GFHRWNNYMM DWKNQFNDYT
601SKKESCVGL

结构预测来自 AlphaFold DB（UniProt: P06276），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

BCHE基因的碱基突变：仅显示部分snp

rs3495 rs829500 rs829501 rs829502 rs829503 rs829507 rs829508 rs853484 rs866164 rs1042406 rs1096091 rs1096092 rs1104453 rs1126680 rs1355534 rs1355535 rs1355536

BCHE基因在不同组织中的表达： [UniProt]

正向引物序列

正向Tm值

反向引物序列

反向Tm值

评分

CTTCCTCAACCATACTAAACTACG

59

TGAGTCTCATTTGGATTCCCA

59

TGTCTTTGGTTTACCTCTGG

58

GAGTCTCATTTGGATTCCCA

57

TGTCTTTGGTTTACCTCTGG

58

GAGTCTCATTTGGATTCCCA

57

AATTTACAGGCTGGAGCAG

58

ATTTGGATTCCCGATTCTCTG

58

AACTACGTGCTCAACAATGTC

59

AGTAGCAGCATATAGGCTCTG

59

GTCTTTGGTTTACCTCTGGA

57

GAGTCTCATTTGGATTCCCA

57

GTCTTTGGTTTACCTCTGGA

57

GAGTCTCATTTGGATTCCCA

57

CAATTTACAGGCTGGAGCA

58

TTTGGATTCCCGATTCTCTG

58

AATGACGAAACTACGTGCT

58

CATATAGGCTCTGTCATTTCCA

58

TCCTCAACCATACTAAACTACG

58

GAGTCTCATTTGGATTCCCA

57

尚未收录相关数据

BCHE基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

质膜
细胞质
细胞外
高尔基体
囊泡
细胞骨架
内质网
细胞核
内体
溶酶体
线粒体

BCHE基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0004104

F8WEX7 (UniProtKB)

IEA

GO:0004104

F8WF14 (UniProtKB)

IEA

GO:0001540

P06276 (UniProtKB)

NAS

GO:0003824

P06276 (UniProtKB)

NAS

GO:0003990

P06276 (UniProtKB)

ISS

GO:0004104

P06276 (UniProtKB)

IDA

GO:0005576

P06276 (UniProtKB)

NAS

GO:0005576

P06276 (UniProtKB)

TAS

GO:0005641

P06276 (UniProtKB)

IEA

GO:0005788

P06276 (UniProtKB)

IEA

GO:0007612

P06276 (UniProtKB)

IEA

GO:0008285

P06276 (UniProtKB)

IEA

GO:0014016

P06276 (UniProtKB)

IEA

GO:0016020

P06276 (UniProtKB)

IEA

GO:0016788

P06276 (UniProtKB)

TAS

GO:0019695

P06276 (UniProtKB)

IEA

GO:0019899

P06276 (UniProtKB)

NAS

GO:0033265

P06276 (UniProtKB)

IEA

GO:0042493

P06276 (UniProtKB)

IEA

GO:0042802

P06276 (UniProtKB)

IPI

GO:0042802

P06276 (UniProtKB)

IPI

GO:0043279

P06276 (UniProtKB)

IEA

GO:0050783

P06276 (UniProtKB)

TAS

GO:0050805

P06276 (UniProtKB)

IEA

GO:0051384

P06276 (UniProtKB)

IEA

GO:0051593

P06276 (UniProtKB)

IEA

GO:0072562

P06276 (UniProtKB)

IDA

可能调控 BCHE基因的相关microRNA：

hsa-miR-26b hsa-miR-335

String

BioGrid

mentha

MINT

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关联基因	作用方式	资源库来源/分值

Reactomepathway

名称
Glycerophospholipid biosynthesis
Metabolism
Metabolism of lipids and lipoproteins
Metabolism of proteins
Neuronal System
Neurotransmitter Clearance In The Synaptic Cleft
Peptide hormone metabolism
Phospholipid metabolism
Synthesis of PC
Synthesis, secretion, and deacylation of Ghrelin
Transmission across Chemical Synapses

疾病名称

关系值

NofPmids

NofSnps

来源

疾病名称	关系值	NofPmids	NofSnps	来源
Butyrylcholinesterase deficiency	0.360814326	7	3	BeFree_CLINVAR_CTD_human_ORPHANET
Alzheimer's Disease	0.192458757	52	1	BeFree_CTD_human_GAD_LHGDN
Organophosphate poisoning	0.124734064	8	0	CTD_human_GAD
Obesity	0.124538567	9	2	BeFree_CTD_human_GAD
Paralysed	0.122367032	10	0	CTD_human_GAD
Mammary Neoplasms	0.120271442	2	0	BeFree_CTD_human
Neuroblastoma	0.120271442	1	0	BeFree_CTD_human
Renal Cell Carcinoma	0.120271442	2	0	BeFree_CTD_human
Seizures	0.120271442	4	0	BeFree_CTD_human
Glioblastoma	0.120271442	1	0	BeFree_CTD_human

In situ hemisynthesis of new meso-substituted dipyrromethanes using natural aldehydes: in vitro anticholinesterase activity and in silico study.

Maadadi R, Boukentoucha C, Bazine I, Menacer R, Bensouici C, Pevzner L, Petrov M, Stepakov A, Abou Dib A, Harakat D Nat Prod Res IF: 1.8 2026-03-27

Phytochemical Composition and Bioactivity of Acanthus dioscoridis var. perringii: An Integrated Analysis of Antioxidant Activity, Enzyme Inhibition, and Phenolic-Bioactivity Correlations.

Selvi B Pharmaceuticals (Basel) 2026-03-20

Synergistic action of JNK activation and BChE inhibition: a novel anti- glioblastoma compound with neuroprotective profile.

Lu Z, Liao Q, Duan Y, Wang K, He S, Lyu W, Chen X, Li Q Future Med Chem IF: 3.3 2026-06-00

Structural and aggregation studies of the butyrylcholinesterase signal peptide combining in vitro experiments and in silico simulations.

Leśniewski M, Dutkiewicz R, Targońska M, Waleron K, Wasąg B, Liwo A, Jasiecki J Chem Biol Interact IF: 5.2 2026-06-25

Unimolecular Organic Afterglow Luminophore With Anti-Kasha/Kasha Emission for in Vivo Activatable Imaging.

Zhao M, Li Q, Li Y, Zhao L, An W, Li G, Li Q, Miao Q Angew Chem Int Ed Engl 2026-06-01

Cinnamon Bud Extract Is a Source of Biomolecules Active against the Aggregation and Condensation of Alzheimer's-Associated Tau Protein.

Viola G, Sperotto A, Palmioli A, Tira R, Munari F, Assfalg M, Airoldi C, D'Onofrio M J Agric Food Chem IF: 6.7 2026-04-15

LC-ESI-MS/MS targeted phenolic profiling, antioxidant, anticholinesterase and cytotoxic activities of ethyl acetate and n-butanol fractions of Hypericum pubescens Boiss.

Ahmed Rais E, Abed N, Kabouche Z, Ozturk M, Çam D, Yilmaz MA, Cakir O, Tarhan A, Irtegun Kandemir S, Fırat D, Kabouche A Nat Prod Res IF: 1.8 2026-04-02

Rational design of environment-sensitive fluorescent probes for butyrylcholinesterase and their application in biological imaging.

Shao L, Wang F, Wang Y, Du J, Cao W, Zhang Q, Zhao F, Wang J, Fan W, Zhou Y, Wang B, Pang X, Yan L Anal Methods IF: 3.0 2026-04-23

Structure-guided modification of a lead cholinesterase-targeting oxime to improve peripheral site binding.

Maraković N, Probst N, Čadež T, Zandona A Arh Hig Rada Toksikol IF: 1.7 2026-03-01

Mechanistic Insights into Bergapten by Modulation of Filamin A and GSK3β in STZ Induced Alzheimer's Disease: An Integrated In Silico, In Vitro and In Vivo Study.

Riaz M, Qadir H, Noman M, Ahmed S, Shah FA, Malik MU, Bashir K, Farooq U, Irshad N Neurochem Res IF: 4.5 2026-04-07

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BCHE (butyrylcholinesterase)

基因基本信息

基因基本信息

基因染色体位置

基因染色体位置

基因简述

基因简述

基因序列

基因序列

编码蛋白质

编码蛋白质

基因突变

基因突变

基因表达

基因表达

基因引物

基因引物

转录因子

转录因子

尚未收录相关数据

基因本体信息

基因相关microRNA

基因相关microRNA

基因相互作用关系

基因相互作用关系

基因通路

基因通路

基因相关疾病

基因相关疾病

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