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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BCHE Gene

protein-coding GIFtS: 70
GCID: GC03M165490

butyrylcholinesterase

(Previous name: cholinesterase 1 )
(Previous symbol: CHE1)

Explore 83 diseases affiliated with
BCHE via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Butyrylcholinesterase¹		Choline Esterase II² ³
CHE1¹ ² ³ ⁵		EC 3.1.1.8³ ⁸
E1¹ ²		Cholinesterase¹
Cholinesterase 1¹ ²		Pseudocholinesterase³
Acylcholine Acylhydrolase² ³		Pseudocholinesterase³
Butyrylcholine Esterase² ³		EC 3.1.1⁸

External Ids:	HGNC: 983¹	Entrez Gene: 590²	Ensembl: ENSG00000114200⁷	OMIM: 177400⁵	UniProtKB: P06276³

Export aliases for BCHE gene to outside databases

Previous GC identifers: GC03M162635 GC03M166531 GC03M166892 GC03M166811 GC03M166973 GC03M162859

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BCHE:

Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged

apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity

of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant,

the homozygote is at no known disadvantage. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CHLE_HUMAN, P06276

Function: Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter

acetylcholine. Can degrade neurotoxic organophosphate esters

summary for BCHE:

Cholinesterases inactivate the neurotransmitter acetylcholine by catalyzing its hydrolysis to choline and

acetic acid. Acetylcholinesterase (AChE) is found in erythroid cells and at neuronal synapses, whilst

butyrylcholinesterase (BChE) is mostly expressed in the liver.

Gene Wiki entry for BCHE (Butyrylcholinesterase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BCHE gene promoter:
Nkx3-1 Nkx3-1 v2 Nkx3-1 v4 Nkx3-1 v3 Nkx3-1 v1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BCHE promoter sequence

Search SABiosciences Chromatin IP Primers for BCHE

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BCHE

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q26.1-q26.2 Ensembl cytogenetic band: 3q26.1 HGNC cytogenetic band: 3q26.1-q26.2

BCHE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCHE gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M165490: view genomic region (about GC identifiers)

Start:	165,490,692 bp from pter	End:	165,555,260 bp from pter
Size:	64,569 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CHLE_HUMAN, P06276 (See protein sequence)

Recommended Name: Cholinesterase precursor

Size: 602 amino acids; 68418 Da

Subunit: Homotetramer; disulfide-linked. Dimer of dimers

Subcellular location: Secreted

6/37 PDB 3D structures from and Proteopedia for BCHE (see all 37):

1EHO (3D)

1EHQ (3D)

1KCJ (3D)

1P0I (3D)

1P0M (3D)

1P0P (3D)

Secondary accessions: A8K7P8

Explore the universe of human proteins at neXtProt for BCHE: NX_P06276

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P06276

4/27 DME Specific Peptides for BCHE (P06276) (see all 27)

HGYEIEF

GVNKDEG

LALQWVQ

NIAAFGG

BCHE Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000046.1

ENSEMBL proteins:

ENSP00000264381 ENSP00000419505 ENSP00000419804 ENSP00000418325 ENSP00000418504

ENSP00000443583

Reactome Protein details: P06276
Human Recombinant Protein Products:

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	OriGene Purified Protein: BCHE OriGene Protein Over-expression Lysate: BCHE OriGene Custom Protein Services for BCHE
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	Novus Biologicals BCHE Protein Novus Biologicals BCHE Lysate
	Sino Biological Recombinant Protein for BCHE
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for BCHE

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	IBA	--
GO:0005624	membrane fraction	--	--
GO:0005641	nuclear envelope lumen	IEA	--
GO:0005783	endoplasmic reticulum	--	--

BCHE for ontologies About GeneDecksing

BCHE Antibody Products:

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	Uscn Antibodies for BCHE
	ThermoFisher Antibodies for BCHE

Assay Products for BCHE:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for BCHE

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BCHE for domains About GeneDecksing

5 InterPro domains/families:

IPR019826 Carboxylesterase_B_AS

IPR000997 Cholinesterase

IPR014788 AChE_tetra

IPR019819 Carboxylesterase_B_CS

IPR002018 CarbesteraseB

Graphical View of Domain Structure for InterPro Entry P06276

ProtoNet protein and cluster: P06276

1 Blocks protein family: IPB000997 Cholinesterase signature

UniProtKB/Swiss-Prot: CHLE_HUMAN, P06276

Similarity: Belongs to the type-B carboxylesterase/lipase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CHLE_HUMAN, P06276

Function: Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter

acetylcholine. Can degrade neurotoxic organophosphate esters

Catalytic activity: An acylcholine + H(2)O = choline + a carboxylate

Enzyme regulation: Inhibited by mercury. Inhibited by Tabun. Tabun forms a covalent adduct with Ser-226 that becomes

irreversible upon aging

Genatlas biochemistry entry for BCHE:

butyryl cholinesterase,serum,with contradictory evidence for association of the K variant with Alzheimer disease,ApoE4

carrier

Enzyme Numbers (IUBMB): EC 3.1.1.8¹ ² EC 3.1.1²

miRNA Products:		OriGene 3'-UTR Clone: BCHE Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BCHE
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate BCHE:
		hsa-miR-16-2* hsa-miR-195* hsa-miR-1256 hsa-miR-3145-3p
		SwitchGear 3'UTR luciferase reporter plasmid: BCHE 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BCHE (see all 7) OriGene shRNA RFP: BCHE OriGene siRNA: BCHE
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BCHE

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for BCHE

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: BCHE (NM_000055)
		Sino Biological Human cDNA Clone for BCHE
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for BCHE
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCHE

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for BCHE
		Search LifeMap BioReagents cell lines for BCHE

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCHE

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001540	beta-amyloid binding	NAS	11569538
GO:0003824	catalytic activity	NAS	11569538
GO:0003990	acetylcholinesterase activity	ISS	--
GO:0004091	carboxylesterase activity	IBA	--
GO:0004104	cholinesterase activity	NAS	--

BCHE for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Bche^tm1Loc for BCHE
     3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Bche):

homeostasis/metabolism

mortality/aging

reproductive system

BCHE for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Irinotecan Pathway, Pharmacokinetics

	Irinotecan Pathway, Pharmacokinetics	1.00			Irinotecan Pathway, Pharmacodynamics	0.50
	Irinotecan Pathway	0.73

Synthesis, Secretion, and Inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)

Synthesis, Secretion, and Deacylation of Ghrelin

0.46

Deacylation of Acyl Ghrelin

0.00

Insulin Processing

Peptide hormone metabolism

0.39

Asparagine N-linked glycosylation

Metabolism of proteins

0.15

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for BCHE

Irinotecan Pathway

4 Reactome Pathways for BCHE

	Deacylation of Acyl Ghrelin
	Synthesis, Secretion, and Deacylation of Ghrelin
	Metabolism of proteins
	Peptide hormone metabolism

2 PharmGKB Pathways for BCHE

	Irinotecan Pathway, Pharmacodynamics
	Irinotecan Pathway, Pharmacokinetics

BCHE for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for BCHE

STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

5 Interacting proteins for BCHE (P06276³ ENSP00000264381⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
COLQ	Q9Y215³, ENSP00000373298⁴	I2D: score=2 STRING: ENSP00000373298
GCG	ENSP00000387662⁴	STRING: ENSP00000387662
IGF1	ENSP00000302665⁴	STRING: ENSP00000302665
INS-IGF2	ENSP00000348986⁴	STRING: ENSP00000348986
LEP	ENSP00000312652⁴	STRING: ENSP00000312652

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007271	synaptic transmission, cholinergic	IBA	--
GO:0007584	response to nutrient	--	--
GO:0007612	learning	--	--
GO:0008152	metabolic process	--	--
GO:0019695	choline metabolic process	IBA	--

BCHE for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

BCHE for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for BCHE available from Tocris Bioscience About this table

Compound	Action	CAS #
Tacrine hydrochloride	Cholinesterase inhibitor	[1684-40-8]
Physostigmine hemisulfate	Cholinesterase inhibitor	[64-47-1]
Galanthamine hydrobromide	Cholinesterase inhibitor	[1953-04-4]
Ambenonium dichloride	Cholinesterase inhibitor	[52022-31-8]
Acephate	Anticholinesterase insecticide	[30560-19-1]

10/13 HMDB Compounds for BCHE (see all 13) About this table

Compound	Synonyms	CAS #	PubMed Ids
Acetylcholine	ACh (see all 7)	51-84-3	--
Arachidic acid	Arachate (see all 10)	506-30-9	--
Arachidonic acid	5,8,11,14-Eicosatetraenoic acid (see all 16)	506-32-1	--
Choline	(2-Hydroxyethyl)trimethyl ammonium (see all 19)	62-49-7	--
Donepezil	Aricept (see all 3)	120014-06-4	--
Heptadecanoic acid	Heptadecanoate (see all 16)	506-12-7	--
Heptadecanoyl CoA	Heptadecanoyl coenzyme A (see all 19)	3546-17-6	--
Myristic acid	1-Tridecanecarboxylate (see all 15)	544-63-8	--
Palmitic acid	Hexaectylic acid (see all 45)	57-10-3	--
Pentadecanoic acid	Pentadecanoate (see all 8)	1002-84-2	--

10/61 DrugBank Compounds for BCHE (see all 61) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Rivastigmine	--	123441-03-2	target	inhibitor	19420308 18671661 12636181 19470293 11139819 19370562 16437532 11752352 18044073 14587496 11078030 19374459
Isoflurophate	DFP (see all 4)	55-91-4	target	inhibitor	1511344 11405252 2361169 1776688 12459190
Isoflurophate	DFP (see all 4)	55-91-4	enzyme	inhibitor	1511344 11405252 2361169 1776688 12459190 1511344 9359435 11405252 2361169 1776688 12459190
Malathion	Carbofos (see all 12)	121-75-5	target	inhibitor	17364237 17139284 16782587 17016423 16716398 10592235
Chloroprocaine	Chloroprocain (see all 3)	133-16-4	enzyme	substrate	7081736 11305839 3111302 7425357 385208
Choline	Bilineurine (see all 7)	62-49-7	target	product of	17329059 16297435 17636231 17390078 16376069
Tacrine	Tetrahydroaminacrine (see all 5)	321-64-2	target	inhibitor	12871155 17218977 10375753 16860785
9-N-Phenylmethylamino-Tacrine	--	--	target	--	17139284 17016423 10592235
Alpha-D-Mannose	--	3458-28-4	target	--	17139284 17016423 10592235
Beta-D-Mannose	--	7322-31-8	target	--	17139284 17016423 10592235
Chlorpromazine	--	50-53-3	enzyme	inhibitor	12747580 12957233 1654884

10/144 Novoseek chemical compound relationships for BCHE gene (see all 144) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
butyrylthiocholine	95.4	40	8449554 (3), 10340441 (2), 8367669 (2), 1373381 (1) (see all 29)
butyrylcholine	92.4	24	9191541 (2), 12501914 (2), 19714864 (2), 14711311 (1) (see all 17)
benzoylcholine	91.6	10	14686935 (2), 15128307 (1), 20004171 (1), 10919342 (1) (see all 6)
o-nitrophenyl butyrate	89.2	2	1390935 (1), 8314794 (1)
rivastigmine	88.6	61	16212945 (4), 19617863 (2), 17047484 (2), 16191241 (1) (see all 48)
acylcholine	88.2	7	2268667 (1), 2009086 (1), 1380483 (1), 1599981 (1) (see all 5)
acetylthiocholine	87.3	26	8449554 (4), 10340441 (2), 8367669 (2), 15137175 (1) (see all 13)
o-nitroacetanilide	86.7	4	16824479 (1), 18208347 (1)
succinyldithiocholine	86.3	2	9047329 (1), 12603134 (1)
echothiophate	86.2	10	17698511 (2), 15136175 (2), 15094306 (1), 9020776 (1) (see all 7)

Search CenterWatch for drugs/clinical trials and news about BCHE / CHLE

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BCHE gene:

NM_000055.2

Unigene Cluster for BCHE:

Butyrylcholinesterase

Hs.420483 [show with all ESTs]

Unigene Representative Sequence: CD014090

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000264381(uc003fem.4 uc003fen.4) ENST00000497011 ENST00000482958

ENST00000479451 ENST00000488954 ENST00000540653

miRNA Products:		OriGene 3'-UTR Clone: BCHE Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BCHE
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate BCHE:
		hsa-miR-16-2* hsa-miR-195* hsa-miR-1256 hsa-miR-3145-3p
		SwitchGear 3'UTR luciferase reporter plasmid: BCHE 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BCHE (see all 7) OriGene shRNA RFP: BCHE OriGene siRNA: BCHE
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BCHE

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BCHE (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BCHE OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: BCHE (NM_000055)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for BCHE
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCHE

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat BCHE
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BCHE
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BCHE

Additional cDNA sequence:

AK292063.1 BC008396.1 BC018141.1 M16474.1 M16541.1

23 DOTS entries:

DT.313157 DT.95166895 DT.92461332 DT.95166782 DT.95166702 DT.92461340 DT.95166968 DT.95166838

DT.95166925 DT.95166971 DT.100825393 DT.92461339 DT.92461344 DT.92461348 DT.92461349 DT.92461355

DT.95166725 DT.95166766 DT.95166916 DT.95166922 DT.95253862 DT.92023343 DT.92461343

24/276 AceView cDNA sequences (see all 276):

AU117425 BP375392 CR612468 CB153819 AL515531 BF514908 BC018141 CR611139

BQ636338 BU194860 BG460188 CD014090 CB161794 BG462048 BG461202 AI369767

BG461801 CB051729 BF056152 BP378668 M16541 BG461806 BX348709 NM_000055

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for BCHE About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6a	·	6b
SP1:									-
SP2:													-
SP3:									-				-
SP4:							-		-				-

ECgene alternative splicing isoforms for BCHE

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BCHE expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATGGACTGGA

About this image

BCHE expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

HyStem+BMP4-induced MEL2 cells (HyStem+BMP4 inductio...)

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See BCHE Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BCHE

SOURCE GeneReport for Unigene cluster: Hs.420483

UniProtKB/Swiss-Prot: CHLE_HUMAN, P06276

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

SABiosciences Expression via Pathway-Focused PCR Array including BCHE:

Alzheimer�'s Disease in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BCHE Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BCHE
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BCHE

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCHE

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for BCHE gene from 4/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	BCHE¹	butyrylcholinesterase	73.19(n) 72.01(a)		395358 NM_204646.1 NP_989977.1
lizard (Anolis carolinensis)	Reptilia	BCHE⁶ -- (see all 7)	--	68(a) 43(a) (see all 7)	1 ↔ 1 possible ortholog (see all 7)	3(10263190-10310541) 2(192423710-192427408)
fruit fly (Drosophila melanogaster)	Insecta	CG6018³	carboxylesterase	40(a) (best of 24)		58E8 --
worm (Caenorhabditis elegans)	Secernentea	R173.3³	esterase	42(a) (best of 27)		X(7065997-7071293) --

ENSEMBL Gene Tree for BCHE (if available)
TreeFam Gene Tree for BCHE (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for BCHE gene

NLGN1² CES2² ACHE² CES4A² NLGN4X² NLGN4Y² CES3² NLGN3²

NLGN2² CES1² CEL² CES5A²

16 SIMAP similar genes for BCHE using alignment to 7 protein entries: CHLE_HUMAN (see all proteins):

ACHE CES1P1 DKFZp686F02202 NLGN4X TG NLGN3

CES8 CES2 CEL CES hBr2 CES5A CES1

NLGN2 CES4A CES3 NLGN4Y

BCHE for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28933389^1,2	C,F,	pathogenic	219941297(-)	`CAGAAC/TGTTGA`	2	T M	mis¹ ese³		5		NA EU	5947
rs104893684^1,2	C	pathogenic	219941489(-)	`ATTACC/TTGAAC`	2	P L	mis¹		0	--	--	--	--
rs121918557^1,2	C,	pathogenic	219941557(-)	`CTTTTA/TTAGTC`	2	I L	mis¹		0	--	--	--	--
rs28933390^1,2	C,F,	pathogenic	219941738(-)	`CTTGGG/TTGATG`	2	G V	mis¹		5		NA EU	5973
rs1803274^1,2	C,F,H,	pathogenic	219998220(-)	`ATGAAG/ACAGAA`	2	/T /A	mis¹		31		EA NA NS CSA WA EU	8865
rs113035155^1,2	C,	--	162858935(+)	`GGTCCG/AGGCAA`	1	--	ds500¹		1		WA	2
rs77307863^1,2	F,	--	162859216(+)	`AGATTC/ATTTCT`	1	--	ds500¹		1		NA	120
rs55849903^1,2	C,	--	162859380(+)	`TTTTAC/TGAGTG`	1	--	ut3¹		2		CSA WA	120
rs76552760^1,2	F,	--	162860271(+)	`CTGATG/AAAAAT`	1	--	int¹		1		NA	120
rs73024290^1,2	C,F,	--	162861176(+)	`ACTAAT/CGGTCT`	1	--	int¹		5		WA NA EA	362

HapMap Linkage Disequilibrium report for BCHE (165490692 - 165555260 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for BCHE: --
Human Gene Mutation Database (HGMD): BCHE

Locus Specific Mutation Databases (LSDB): BCHE

SABiosciences Cancer Mutation PCR Assays

1 SABiosciences qBiomarker Copy Number PCR Array containing BCHE:

Breast Cancer

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BCHE

DNA2.0 Custom Variant and Variant Library Synthesis for BCHE

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

BCHE for disorders About GeneDecksing

OMIM gene information: 177400 OMIM disorders: --

UniProtKB/Swiss-Prot: CHLE_HUMAN, P06276

Defects in BCHE are the cause of butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]. BChE

deficiency is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs,

including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the

prolonged apnoea varies significantly depending on the extent of the enzyme deficiency. BChE deficiency is a

multifactorial disorder. The hereditary condition is transmitted as an autosomal recessive trait

20/83 diseases for BCHE (see all 83): About MalaCards

apnea neural tube defect pseudocholinesterase deficiency disseminated intravascular coagulation

cocaine abuse lewy body dementia supranuclear palsy spina bifida

adult respiratory distress syndrome cerebral amyloid angiopathy progressive supranuclear palsy drug psychosis

diabetes mellitus type 2 diabetes mellitus anencephaly type 1 diabetes mellitus

hellp syndrome ovarian hyperstimulation syndrome alzheimer disease type 2 hirschsprung's disease

2 diseases from the University of Copenhagen DISEASES database for BCHE:

Alzheimer's disease Cocaine abuse

10/71 Novoseek disease relationships for BCHE gene (see all 71) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pseudocholinesterase deficiency	92.9	26	17805000 (4), 17613911 (3), 15905758 (2), 10614702 (2) (see all 17)
alzheimers disease	77.1	150	17681768 (4), 15510242 (3), 17553629 (3), 16275899 (2) (see all 93)
poisoning	65.9	37	18937214 (3), 19428953 (3), 2379248 (2), 20398460 (2) (see all 18)
cocaine intoxication	56.2	4	9266811 (1), 9673783 (1), 9266810 (1), 9882701 (1)
dementia	53.7	42	12668920 (3), 1469405 (2), 7979218 (2), 12796550 (2) (see all 25)
spina bifida open	52.8	3	7647148 (2), 1705434 (1)
senile plaques	52.6	16	9165483 (2), 9403484 (2), 10893490 (1), 7979218 (1) (see all 12)
intoxication	48.9	7	18076380 (1), 10437130 (1), 14600276 (1), 19586353 (1) (see all 7)
neurofibrillary tangles	46.1	8	8004445 (2), 10893490 (1), 8792327 (1), 8239315 (1) (see all 5)
dementia vascular	36.5	3	12417373 (1), 15219807 (1), 15633941 (1)

Genatlas disease: BCHE

apnea,postanesthetic,suxamethonium sensitivity,hypocholinesterasemia or acholinesterasemia

Genetic Association Database (GAD): BCHE
Human Genome Epidemiology (HuGE) Navigator: BCHE (68 documents)

Export disorders for BCHE gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for BCHE gene, integrated from 9 sources (see all 943):
(articles sorted by number of sources associating them with BCHE)

Utopia: connect your pdf to the dynamic
world of online information

Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. (PubMed id 12881446)^{1, 2, 4, 9} Yen T.... Stewart P.M. (2003)
Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India. (PubMed id 16788378)^{1, 2, 9} Manoharan I....Boopathy R. (2006)
The cloned butyrylcholinesterase (BCHE) gene maps to a single chromosome site, 3q26. (PubMed id 1769657)^{1, 3, 9} Allderdice P.W....McAlpine P.J. (1991)
Crystallization and X-ray structure of full-length recombinant human butyrylcholinesterase. (PubMed id 17768338)^{1, 2, 9} Ngamelue M.N.... Asojo O.A. (2007)
Possible influence of BCHE locus of butyrylcholinesterase on stature and body mass index. (PubMed id 15386241)^{1, 4, 9} Souza R.L....Chautard-Freire-Maia E.A. (2005)
Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia. (PubMed id 18075469)^{1, 2, 9} Gaetke M.R.... Viby-Mogensen J. (2007)
Interaction of human butyrylcholinesterase variants with bambuterol and terbutaline. (PubMed id 15449725)^{1, 7, 9} Kovarik Z. and Simeon-Rudolf V. (2004)
Crystal structure of human butyrylcholinesterase and of its complexes with substrate and products. (PubMed id 12869558)^{1, 2, 9} Nicolet Y.... Nachon F. (2003)
Improved prediction of early-onset coronary artery disease using APOE epsilon4, BChE-K, PPARgamma2 Pro12 and ENOS T-786C in a polygenic model. (PubMed id 16298355)^{1, 4, 9} Nassar B.A....Title L.M. (2006)
[Relationship between the polymorphism of carboxylic esterases and genetic susceptibility to organophosphates pesticides exposure] (PubMed id 16105444)^{1, 4, 9} Zheng J....Gu X.A. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 590	HGNC: 983	AceView: BCHE	Ensembl:ENSG00000114200	euGenes: HUgn590
ECgene: BCHE	H-InvDB: BCHE

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for BCHE	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for BCHE	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for BCHE gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for BCHE gene:
Search GeneIP for patents involving BCHE

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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