Atlas of Genetics and Cytogenetics in Oncology and Haematology

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BCHE (butyrylcholinesterase)

Identity

Other namesCHE1
CHE2
E1
HGNC (Hugo) BCHE
LocusID (NCBI) 590
Location 3q26.1
Location_base_pair Starts at 165490692 and ends at 165555253 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)BCHE   983
Cards
Entrez_Gene (NCBI)BCHE  590  butyrylcholinesterase
GeneCards (Weizmann)BCHE
Ensembl hg19 (Hinxton)ENSG00000114200 [Gene_View]  chr3:165490692-165555253 [Contig_View]  BCHE [Vega]
Ensembl hg38 (Hinxton)ENSG00000114200 [Gene_View]  chr3:165490692-165555253 [Contig_View]  BCHE [Vega]
ICGC DataPortalENSG00000114200
cBioPortalBCHE
AceView (NCBI)BCHE
Genatlas (Paris)BCHE
WikiGenes590
SOURCE (Princeton)BCHE
Genomic and cartography
GoldenPath hg19 (UCSC)BCHE  -     chr3:165490692-165555253 -  3q26.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BCHE  -     3q26.1   [Description]    (hg38-Dec_2013)
EnsemblBCHE - 3q26.1 [CytoView hg19]  BCHE - 3q26.1 [CytoView hg38]
Mapping of homologs : NCBIBCHE [Mapview hg19]  BCHE [Mapview hg38]
OMIM177400   
Gene and transcription
Genbank (Entrez)AK292063 BC008396 BC018141 BF056152 DA426203
RefSeq transcript (Entrez)NM_000055
RefSeq genomic (Entrez)AC_000135 NC_000003 NC_018914 NG_009031 NT_005612 NW_001838884 NW_004929311
Consensus coding sequences : CCDS (NCBI)BCHE
Cluster EST : UnigeneHs.420483 [ NCBI ]
CGAP (NCI)Hs.420483
Alternative Splicing : Fast-db (Paris)GSHG0022207
Alternative Splicing GalleryENSG00000114200
Gene ExpressionBCHE [ NCBI-GEO ]     BCHE [ SEEK ]   BCHE [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP06276 (Uniprot)
NextProtP06276  [Medical]
With graphics : InterProP06276
Splice isoforms : SwissVarP06276 (Swissvar)
Catalytic activity : Enzyme3.1.1.8 [ Enzyme-Expasy ]   3.1.1.83.1.1.8 [ IntEnz-EBI ]   3.1.1.8 [ BRENDA ]   3.1.1.8 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)CARBOXYLESTERASE_B_1 (PS00122)    CARBOXYLESTERASE_B_2 (PS00941)   
Domains : Interpro (EBI)AB_hydrolase    AChE_tetra    CarbesteraseB    Carboxylesterase_B_AS    Carboxylesterase_B_CS    Cholinesterase   
Related proteins : CluSTrP06276
Domain families : Pfam (Sanger)AChE_tetra (PF08674)    COesterase (PF00135)   
Domain families : Pfam (NCBI)pfam08674    pfam00135   
Domain structure : Prodom (Prabi Lyon)AChE_tetra (PD415333)   
DMDM Disease mutations590
Blocks (Seattle)P06276
PDB (SRS)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   
PDB (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   
PDB (IMB)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   
PDB (RSDB)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   
Human Protein AtlasENSG00000114200
Peptide AtlasP06276
HPRD01519
IPIIPI00025864   IPI00797309   IPI00946206   IPI00946310   IPI00945517   
Protein Interaction databases
DIP (DOE-UCLA)P06276
IntAct (EBI)P06276
FunCoupENSG00000114200
BioGRIDBCHE
IntegromeDBBCHE
STRING (EMBL)BCHE
Ontologies - Pathways
QuickGOP06276
Ontology : AmiGObeta-amyloid binding  catalytic activity  acetylcholinesterase activity  acetylcholinesterase activity  cholinesterase activity  extracellular region  extracellular region  extracellular space  nuclear envelope lumen  endoplasmic reticulum lumen  synaptic transmission, cholinergic  learning  negative regulation of cell proliferation  neuroblast differentiation  membrane  choline metabolic process  enzyme binding  choline binding  response to drug  identical protein binding  response to alkaloid  cellular protein metabolic process  cocaine metabolic process  negative regulation of synaptic transmission  response to glucocorticoid  response to folic acid  blood microparticle  
Ontology : EGO-EBIbeta-amyloid binding  catalytic activity  acetylcholinesterase activity  acetylcholinesterase activity  cholinesterase activity  extracellular region  extracellular region  extracellular space  nuclear envelope lumen  endoplasmic reticulum lumen  synaptic transmission, cholinergic  learning  negative regulation of cell proliferation  neuroblast differentiation  membrane  choline metabolic process  enzyme binding  choline binding  response to drug  identical protein binding  response to alkaloid  cellular protein metabolic process  cocaine metabolic process  negative regulation of synaptic transmission  response to glucocorticoid  response to folic acid  blood microparticle  
Protein Interaction DatabaseBCHE
DoCM (Curated mutations)BCHE
Wikipedia pathwaysBCHE
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerBCHE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCHE
dbVarBCHE
ClinVarBCHE
1000_GenomesBCHE 
Exome Variant ServerBCHE
SNP (GeneSNP Utah)BCHE
SNP : HGBaseBCHE
Genetic variants : HAPMAPBCHE
Genomic VariantsBCHE  BCHE [DGVbeta]
Mutations
ICGC Data PortalENSG00000114200 
Somatic Mutations in Cancer : COSMICBCHE 
CONAN: Copy Number AnalysisBCHE 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)3:165490692-165555253
Mutations and Diseases : HGMDBCHE
OMIM177400   
MedgenBCHE
NextProtP06276 [Medical]
GENETestsBCHE
Disease Genetic AssociationBCHE
Huge Navigator BCHE [HugePedia]  BCHE [HugeCancerGEM]
snp3D : Map Gene to Disease590
DGIdb (Drug Gene Interaction db)BCHE
General knowledge
Homologs : HomoloGeneBCHE
Homology/Alignments : Family Browser (UCSC)BCHE
Phylogenetic Trees/Animal Genes : TreeFamBCHE
Chemical/Protein Interactions : CTD590
Chemical/Pharm GKB GenePA25294
Clinical trialBCHE
Cancer Resource (Charite)ENSG00000114200
Other databases
Probes
Litterature
PubMed187 Pubmed reference(s) in Entrez
CoreMineBCHE
GoPubMedBCHE
iHOPBCHE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:21:33 CET 2014
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