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Aliases & Descriptions for BCHE
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| CHE1 2, 3, 5 | | E1 1, 2 | | EC 3.1.1.8 3 | | Pseudocholinesterase 3 | | butyrylcholinesterase 2 |
| | | Descriptions |
|---|
| Acylcholine acylhydrolase 3 | | Butyrylcholine esterase 3 | | Choline esterase II 3 |
|
| | Search outside databases for aliases for BCHE genePrevious GC identifers: GC03M162635 GC03M166531 GC03M166892 GC03M166811 |
Summaries for BCHE(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene 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] Gene Wiki entry for BCHE (Butyrylcholinesterase) |
Genomic Location for BCHE
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the BCHE gene 
Entrez Gene cytogenetic band: 3q26.1-q26.2 Ensembl cytogenetic band: 3q26.1 HGNC cytogenetic band: 3q26.1-q26.2BCHE Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M166973:
(about GC identifiers)
Start:
|
166,973,386 bp from pter |
End:
|
167,037,947 bp from pter |
Size:
|
64,562 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000003.10 NT_005612.15
| Proteins for BCHE
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: CHLE_HUMAN, P06276 (See
protein sequence)Recommended Name: Cholinesterase precursor Size: 602 amino acids; 68418 Da
Subunit: Homotetramer. The tetramer is composed of two dimers. The two subunits in a dimer are linked by a disulfide bond
Miscellaneous: Cholinesterase is highly reactive with organophosphate esters
PDB structures from and Proteopedia :1EHO (3D)
 1EHQ (3D)
 1KCJ (3D)
 1P0I (3D)
 1P0M (3D)
 1P0P (3D)
 1P0Q (3D)
 1XLU (3D)
 1XLV (3D)
 1XLW (3D)
 2J4C (3D)
 2PM8 (3D)
 3DJY (3D)
 3DKK (3D)
 
Secondary accessions: A8K7P8REFSEQ proteins: NP_000046.1
ENSEMBL proteins: ENSP00000264381
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
4 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for BCHE: Assays for BCHE: | Protein
Domains/ Families for BCHE(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, P06276Similarity: Belongs to the type-B carboxylesterase/lipase family | Gene Function for BCHE
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000055
Applied Biosystems Silencer® siRNAs for BCHE
Sigma-Aldrich siRNA and siRNA Panels for BCHE  Sigma-Aldrich shRNA for BCHE  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000055                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000055                                  untagged cDNA clone in CMV expression vector: NM_000055 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000055
UniProtKB/Swiss-Prot: CHLE_HUMAN, P06276Catalytic activity: An acylcholine + H(2)O = choline + a carboxylateEnzyme Number (IUBMB): EC 3.1.1.8 Genatlas biochemistry entry for BCHE:butyryl cholinesterase,serum,with contradictory evidence for association of the K variant with Alzheimer disease,ApoE4 carrier1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Bche):
4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for BCHE
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for BCHE 
5/16 Interacting proteins for BCHE (ENSP000002643813) via UniProtKB, MINT, and/or STRING (see all 16
)About this table
1 Gene Ontology (GO) biological process term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0050783 | cocaine metabolic process |
TAS | 8622553 | About this table
|
Drugs & Compounds for BCHE(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  |
Enzo Life Sciences drugs & compounds for BCHE |
 | Sigma-Aldrich Small Molecules for BCHE: Inhibitor |
Compounds for BCHE available from Tocris Bioscience About this table
10/49 Novoseek chemical compound relationships for BCHE gene (see all 49
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| butyrylthiocholine |
95.59 |
40 |
8449554 (3), 10340441 (2), 8367669 (2), 1373381 (1) (see all 29) |
| butyrylcholine |
91.92 |
20 |
9191541 (2), 12501914 (2), 14711311 (1), 7695328 (1) (see all 14) |
| benzoylcholine |
91.74 |
9 |
14686935 (2), 15128307 (1), 10919342 (1), 16434764 (1) (see all 5) |
| o-nitrophenyl butyrate |
89.58 |
2 |
1390935 (1), 8314794 (1) |
| acylcholine |
88.62 |
7 |
2268667 (1), 2009086 (1), 1380483 (1), 1599981 (1) (see all 5) |
| o-nitroacetanilide |
87.68 |
4 |
16824479 (1), 18208347 (1) |
| acetylthiocholine |
87.11 |
25 |
8449554 (4), 10340441 (2), 8367669 (2), 15137175 (1) (see all 12) |
| succinyldithiocholine |
86.74 |
2 |
9047329 (1), 12603134 (1) |
| bw 284 c 51 |
86.50 |
10 |
10340441 (1), 11801199 (1), 17300836 (1), 9398183 (1) (see all 9) |
| choline ester |
85.45 |
5 |
2332047 (1), 10421452 (1), 17636231 (1) |
About this table
4 PharmGKB drug compound relationships for BCHE geneAbout this table
|
Transcripts for BCHE(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000055
Sigma-Aldrich siRNA and siRNA Panels for BCHE  Sigma-Aldrich shRNA for BCHE  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000055 REFSEQ mRNAs for BCHE gene: NM_000055.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000055               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000055                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000055                                  untagged cDNA clone in CMV expression vector: NM_000055  Additional cDNA sequence: AK292063.1 BC008396.1 BC018141.1 CR611139.1 CR612468.1 M16474.1 M16541.1 22 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.95166725 DT.95166766 DT.95166916 DT.95166922 DT.95253862 DT.92023343 DT.92461343 24/276 AceView cDNA sequences (see all 276
):CR612468 BP375392 AU117425 AL515531 BF514908 BQ636338 BU194860 BC018141 CR611139 CB153819 BG460986 CB161794 BG461123 T28216 BG548545 BP378539 BG460188 BG460576 BP376574 BM090671 BC008396 BX348709 BG459911 AA992576
highest scoring ESTs for BCHE:M16541 AA090958 AL515531 AL602693 AL706210 BC008396 BC018141 BE890381 BE893471 BF541023 Unigene Cluster for BCHE: Butyrylcholinesterase Hs.420483 [show with all ESTs]Unigene Representative Sequence: CD014090
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for BCHE
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | |
| SP1: | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |
| SP3: | |   | |   | |   | |   | - |   | |   | - |   | |   | |   | |
| SP4: | |   | |   | |   | - |   | - |   | |   | - |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for BCHE
1 Ensembl transcript including schematic representation: ENST00000264381
|
Expression for BCHE
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| BCHE expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for BCHE
1 / 2 / 3 3 probe-sets matching BCHE gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: ATGGACTGGA
SOURCE GeneReport for Unigene cluster: Hs.420483
Expression variation in blood from EXPOLDB for BCHE UniProtKB/Swiss-Prot: CHLE_HUMAN, P06276Tissue specificity: Present in most cells except erythrocytes |
Orthologs for BCHE
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for BCHE gene from 5/10 species (see all 10
)
About this table Species with no ortholog for BCHE
ENSEMBL Gene Tree for BCHE | Paralogs for BCHE(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for BCHE gene
- TG2 ACHE2
|
SNPs/Variants for BCHE(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for BCHE (up to first 250kb)
|
Disorders & Mutations for BCHE
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 177400 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 trait10/68 Novoseek disease relationships for BCHE gene (see all 68
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| pseudocholinesterase deficiency |
92.68 |
24 |
17805000 (4), 17613911 (3), 15905758 (2), 10614702 (2) (see all 15) |
| alzheimers disease |
76.19 |
138 |
17681768 (4), 15510242 (3), 17553629 (3), 16275899 (2) (see all 84) |
| poisoning |
64.66 |
30 |
18937214 (3), 19428953 (3), 2379248 (2), 15462154 (1) (see all 16) |
| cocaine intoxication |
57.36 |
4 |
9266811 (1), 9673783 (1), 9266810 (1), 9882701 (1) |
| spina bifida open |
54.62 |
3 |
7647148 (2), 1705434 (1) |
| senile plaques |
54.53 |
16 |
9165483 (2), 9403484 (2), 10893490 (1), 7979218 (1) (see all 12) |
| dementia |
52.34 |
41 |
12668920 (3), 1469405 (2), 7979218 (2), 12796550 (2) (see all 24) |
| intoxication |
48.46 |
6 |
18076380 (1), 10437130 (1), 14600276 (1), 10794391 (1) (see all 6) |
| neurofibrillary tangles |
46.43 |
8 |
8004445 (2), 10893490 (1), 8792327 (1), 8239315 (1) (see all 5) |
| dementia vascular |
38.56 |
3 |
12417373 (1), 15219807 (1), 15633941 (1) |
About this table
1 PharmGKB disease relationship for BCHE gene
| Disease |
PharmGKB Relations |
PubMed IDs for articles supporting these relationships |
| Dementia | CO  PD  GN   | 12668920 | About this table
Genatlas disease: BCHE apnea,postanesthetic,suxamethonium sensitivity,hypocholinesterasemia or acholinesterasemia Human Gene Mutation Database: BCHE Genetic Association Database: BCHE Human Genome Epidemiology Navigator: BCHE (49 documents)
|
Medical News for BCHE(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for BCHE (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/550 PubMed articles for BCHE gene (see all 550
):- Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. (PubMed id 12881446)1, 3, 4, 6 Yen T....Stewart P.M. (2003)
- Regulation of attention and response to therapy in dementia by butyrylcholinesterase. (PubMed id 12668920)1, 3, 7 O'Brien K.K....McKeith I.G. (2003)
- Frequency of butyrylcholinesterase gene mutations in individuals with abnormal inhibition numbers: an Italian-population study. (PubMed id 12724618)3, 6, 7 Lando G....Patrosso M.C. (2003)
- Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India. (PubMed id 16788378)1, 3, 4 Manoharan I....Boopathy R. (2006)
- The cloned butyrylcholinesterase (BCHE) gene maps to a single chromosome site, 3q26. (PubMed id 1769657)1, 2, 3 Allderdice P.W....McAlpine P.J. (1991)
- Possible influence of BCHE locus of butyrylcholinesterase on stature and body mass index. (PubMed id 15386241)1, 3, 6 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, 3, 4 Gatke M.R....Viby-Mogensen J. (2007)
- Association between low-density lipoprotein receptor-related protein gene, butyrylcholinesterase gene and Alzheimer' s disease in Chinese. (PubMed id 12901493)1, 3, 6 Bi S....Zhao Q. (2001)
- Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further study. (PubMed id 15690550)1, 3, 6 Cook L.J....Rubinsztein D.C. (2005)
- 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, 3, 6 Nassar B.A....Title L.M. (2006)
|
Search for BCHE
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing BCHE
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing BCHE
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BCHE(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for BCHE(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for BCHE:

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| | | | Tocris compounds for BCHE |
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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