BCHE (butyrylcholinesterase)

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BCHE (butyrylcholinesterase)

Identity

Alias_names	CHE1
	CHE2
	cholinesterase 1
	cholinesterase (serum) 2
Alias_symbol (synonym)	E1
Other alias
HGNC (Hugo)	BCHE
LocusID (NCBI)	590
Atlas_Id	769
Location	3q26.1 [Link to chromosome band 3q26]
Location_base_pair	Starts at 165772903 and ends at 165837472 bp from pter ( according to hg38-Dec_2013)

Fusion genes
(updated 2016)

BCHE (3q26.1) / SLC35E3 (12q15)

IQCJ (3q25.32) / BCHE (3q26.1)

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

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]

Lung: Translocations in Squamous Cell Carcinoma

External links

	Nomenclature
HGNC (Hugo)	BCHE 983
	Cards
Entrez_Gene (NCBI)	BCHE 590 butyrylcholinesterase
Aliases	CHE1; CHE2; E1
GeneCards (Weizmann)	BCHE
Ensembl hg19 (Hinxton)	ENSG00000114200 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000114200 [Gene_View] chr3:165772903-165837472 [Contig_View] BCHE [Vega]
ICGC DataPortal	ENSG00000114200
TCGA cBioPortal	BCHE
AceView (NCBI)	BCHE
Genatlas (Paris)	BCHE
WikiGenes	590
SOURCE (Princeton)	BCHE
Genetics Home Reference (NIH)	BCHE
	Genomic and cartography
GoldenPath hg38 (UCSC)	BCHE - chr3:165772903-165837472 - 3q26.1 [Description] (hg38-Dec_2013)
GoldenPath hg19 (UCSC)	BCHE - 3q26.1 [Description] (hg19-Feb_2009)
Ensembl	BCHE - 3q26.1 [CytoView hg19] BCHE - 3q26.1 [CytoView hg38]
Mapping of homologs : NCBI	BCHE [Mapview hg19] BCHE [Mapview hg38]
OMIM	177400
	Gene and transcription
Genbank (Entrez)	AK292063 AL706210 BC008396 BC018141 BF056152
RefSeq transcript (Entrez)	NM_000055
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)	BCHE
Cluster EST : Unigene	Hs.420483 [ NCBI ]
CGAP (NCI)	Hs.420483
Alternative Splicing Gallery	ENSG00000114200
Gene Expression	BCHE [ NCBI-GEO ] BCHE [ EBI - ARRAY_EXPRESS ] BCHE [ SEEK ] BCHE [ MEM ]
Gene Expression Viewer (FireBrowse)	BCHE [ Firebrowse - Broad ]
SOURCE (Princeton)	Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
Genevisible	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	590
GTEX Portal (Tissue expression)	BCHE
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P06276 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	P06276 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	P06276
Splice isoforms : SwissVar	P06276
Catalytic activity : Enzyme	3.1.1.8 [ Enzyme-Expasy ] 3.1.1.8 3.1.1.8 [ IntEnz-EBI ] 3.1.1.8 [ BRENDA ] 3.1.1.8 [ KEGG ]
PhosPhoSitePlus	P06276
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
Domain families : Pfam (Sanger)	AChE_tetra (PF08674) COesterase (PF00135)
Domain families : Pfam (NCBI)	pfam08674 pfam00135
Domain structure : Prodom (Prabi Lyon)	AChE_tetra (PD415333)
Conserved Domain (NCBI)	BCHE
DMDM Disease mutations	590
Blocks (Seattle)	BCHE
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 4TPK 4XII 5DYT 5DYW 5DYY 5K5E 5LKR
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 4TPK 4XII 5DYT 5DYW 5DYY 5K5E 5LKR
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 4TPK 4XII 5DYT 5DYW 5DYY 5K5E 5LKR
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 4TPK 4XII 5DYT 5DYW 5DYY 5K5E 5LKR
Structural Biology KnowledgeBase	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 4TPK 4XII 5DYT 5DYW 5DYY 5K5E 5LKR
SCOP (Structural Classification of Proteins)	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 4TPK 4XII 5DYT 5DYW 5DYY 5K5E 5LKR
CATH (Classification of proteins structures)	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 4TPK 4XII 5DYT 5DYW 5DYY 5K5E 5LKR
Superfamily	P06276
Human Protein Atlas	ENSG00000114200
Peptide Atlas	P06276
HPRD	01519
IPI	IPI00025864 IPI00797309 IPI00946206 IPI00946310 IPI00945517
	Protein Interaction databases
DIP (DOE-UCLA)	P06276
IntAct (EBI)	P06276
FunCoup	ENSG00000114200
BioGRID	BCHE
STRING (EMBL)	BCHE
ZODIAC	BCHE
	Ontologies - Pathways
QuickGO	P06276
Ontology : AmiGO	beta-amyloid binding catalytic activity acetylcholinesterase activity cholinesterase activity extracellular region extracellular region nuclear envelope lumen endoplasmic reticulum lumen learning negative regulation of cell proliferation neuroblast differentiation membrane hydrolase activity, acting on ester bonds choline metabolic process enzyme binding choline binding response to drug identical protein binding response to alkaloid cocaine metabolic process negative regulation of synaptic transmission response to glucocorticoid response to folic acid blood microparticle
Ontology : EGO-EBI	beta-amyloid binding catalytic activity acetylcholinesterase activity cholinesterase activity extracellular region extracellular region nuclear envelope lumen endoplasmic reticulum lumen learning negative regulation of cell proliferation neuroblast differentiation membrane hydrolase activity, acting on ester bonds choline metabolic process enzyme binding choline binding response to drug identical protein binding response to alkaloid cocaine metabolic process negative regulation of synaptic transmission response to glucocorticoid response to folic acid blood microparticle
NDEx Network	BCHE
Atlas of Cancer Signalling Network	BCHE
Wikipedia pathways	BCHE
	Orthology - Evolution
OrthoDB	590
GeneTree (enSembl)	ENSG00000114200
Phylogenetic Trees/Animal Genes : TreeFam	BCHE
HOVERGEN	P06276
HOGENOM	P06276
Homologs : HomoloGene	BCHE
Homology/Alignments : Family Browser (UCSC)	BCHE
	Gene fusions - Rearrangements
Fusion : Mitelman	IQCJ/BCHE [3q25.32/3q26.1] [t(3;3)(q25;q26)]
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	BCHE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	BCHE
dbVar	BCHE
ClinVar	BCHE
1000_Genomes	BCHE
Exome Variant Server	BCHE
ExAC (Exome Aggregation Consortium)	BCHE (select the gene name)
Genetic variants : HAPMAP	590
Genomic Variants (DGV)	BCHE [DGVbeta]
DECIPHER	BCHE [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	BCHE
	Mutations
ICGC Data Portal	BCHE
TCGA Data Portal	BCHE
Broad Tumor Portal	BCHE
OASIS Portal	BCHE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	BCHE [overview] [genome browser] [tissue] [distribution]
Mutations and Diseases : HGMD	BCHE
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
BioMuta	search BCHE
DgiDB (Drug Gene Interaction Database)	BCHE
DoCM (Curated mutations)	BCHE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)	BCHE (select a term)
intoGen	BCHE
Cancer3D	BCHE(select the gene name)
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	177400
Orphanet	3704 23065
Medgen	BCHE
Genetic Testing Registry	BCHE
NextProt	P06276 [Medical]
TSGene	590
GENETests	BCHE
Target Validation	BCHE
Huge Navigator	BCHE [HugePedia]
snp3D : Map Gene to Disease	590
BioCentury BCIQ	BCHE
ClinGen	BCHE
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	590
Chemical/Pharm GKB Gene	PA25294
Clinical trial	BCHE
	Miscellaneous
canSAR (ICR)	BCHE (select the gene name)
	Probes
	Litterature
PubMed	221 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	BCHE
EVEX	BCHE
GoPubMed	BCHE
iHOP	BCHE

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Wed Jun 7 12:25:22 CEST 2017

Home Genes Leukemias Solid Tumors Cancer-Prone Deep Insight Case Reports Journals Portal Teaching

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.

Atlas of Genetics and Cytogenetics in Oncology and Haematology

BCHE (butyrylcholinesterase)

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

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