Human Gene BCHE (ENST00000264381.8)
  Description: Homo sapiens butyrylcholinesterase (BCHE), transcript variant 1, mRNA. (from RefSeq NM_000055)
RefSeq Summary (NM_000055): This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016].
Gencode Transcript: ENST00000264381.8
Gencode Gene: ENSG00000114200.10
Transcript (Including UTRs)
   Position: hg38 chr3:165,772,904-165,837,423 Size: 64,520 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr3:165,773,382-165,831,033 Size: 57,652 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:165,772,904-165,837,423)mRNA (may differ from genome)Protein (602 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: CHLE_HUMAN
DESCRIPTION: RecName: Full=Cholinesterase; EC=3.1.1.8; AltName: Full=Acylcholine acylhydrolase; AltName: Full=Butyrylcholine esterase; AltName: Full=Choline esterase II; AltName: Full=Pseudocholinesterase; Flags: Precursor;
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.
SUBUNIT: Homotetramer; disulfide-linked. Dimer of dimers.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Detected in blood plasma (at protein level). Present in most cells except erythrocytes.
DISEASE: 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.
SIMILARITY: Belongs to the type-B carboxylesterase/lipase family.

-  MalaCards Disease Associations
  MalaCards Gene Search: BCHE
Diseases sorted by gene-association score: pseudocholinesterase deficiency* (880), cocaine intoxication (25), curariform drugs toxicity* (25), vascular dementia (19), alzheimer disease 6 (12), functional colonic disease (11), colonic pseudo-obstruction (8), ideomotor apraxia (7), dementia, lewy body (6), alzheimer disease (6), nervous system cancer (5), alzheimer disease-2 (5), agraphia (4), tuberculous peritonitis (4), amnestic disorder (4), neuromuscular junction disease (4), nervous system disease (1), parkinson disease, late-onset (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.41 RPKM in Fallopian Tube
Total median expression: 162.88 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.20118-0.205 Picture PostScript Text
3' UTR -66.80478-0.140 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR014788 - AChE_tetra
IPR002018 - CarbesteraseB
IPR019826 - Carboxylesterase_B_AS
IPR019819 - Carboxylesterase_B_CS
IPR000997 - Cholinesterase

Pfam Domains:
PF08674 - Acetylcholinesterase tetramerisation domain
PF00135 - Carboxylesterase family

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1EHO
- Model

1EHQ
- Model

1KCJ
- Model
To conserve bandwidth, only the images from the first 3 structures are shown.
1P0I - X-ray MuPIT 1P0M - X-ray MuPIT 1P0P - X-ray MuPIT
1P0Q - X-ray MuPIT 1XLU - X-ray MuPIT 1XLV - X-ray MuPIT
1XLW - X-ray MuPIT 2J4C - X-ray MuPIT 2PM8 - X-ray MuPIT
2WID - X-ray MuPIT 2WIF - X-ray MuPIT 2WIG - X-ray MuPIT
2WIJ - X-ray MuPIT 2WIK - X-ray MuPIT 2WIL - X-ray MuPIT
2WSL - X-ray MuPIT 2XMB - X-ray MuPIT 2XMC - X-ray MuPIT
2XMD - X-ray MuPIT 2XMG - X-ray MuPIT 2XQF - X-ray MuPIT
2XQG - X-ray MuPIT 2XQI - X-ray MuPIT 2XQJ - X-ray MuPIT
2XQK - X-ray MuPIT 2Y1K - X-ray MuPIT 3DJY - X-ray MuPIT
3DKK - X-ray MuPIT 3O9M - X-ray MuPIT 4AQD - X-ray MuPIT
4AXB - X-ray MuPIT 4B0O - X-ray MuPIT 4B0P - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P06276
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD Ensembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001540 beta-amyloid binding
GO:0003824 catalytic activity
GO:0003990 acetylcholinesterase activity
GO:0004104 cholinesterase activity
GO:0016787 hydrolase activity
GO:0016788 hydrolase activity, acting on ester bonds
GO:0019899 enzyme binding
GO:0033265 choline binding
GO:0042802 identical protein binding
GO:0052689 carboxylic ester hydrolase activity

Biological Process:
GO:0007584 response to nutrient
GO:0007612 learning
GO:0008285 negative regulation of cell proliferation
GO:0014016 neuroblast differentiation
GO:0019695 choline metabolic process
GO:0042493 response to drug
GO:0043279 response to alkaloid
GO:0050783 cocaine metabolic process
GO:0050805 negative regulation of synaptic transmission
GO:0051384 response to glucocorticoid
GO:0051593 response to folic acid

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005641 nuclear envelope lumen
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0016020 membrane
GO:0072562 blood microparticle


-  Descriptions from all associated GenBank mRNAs
  KJ901301 - Synthetic construct Homo sapiens clone ccsbBroadEn_10695 BCHE gene, encodes complete protein.
KJ890759 - Synthetic construct Homo sapiens clone ccsbBroadEn_00153 BCHE gene, encodes complete protein.
KR709400 - Synthetic construct Homo sapiens clone CCSBHm_00001910 BCHE (BCHE) mRNA, encodes complete protein.
KR709401 - Synthetic construct Homo sapiens clone CCSBHm_00001919 BCHE (BCHE) mRNA, encodes complete protein.
KR709402 - Synthetic construct Homo sapiens clone CCSBHm_00001938 BCHE (BCHE) mRNA, encodes complete protein.
KR709403 - Synthetic construct Homo sapiens clone CCSBHm_00001959 BCHE (BCHE) mRNA, encodes complete protein.
M16474 - Human fetal butyrylcholinesterase mRNA, complete cds.
M16541 - Human butyrylcholinesterase, mRNA, complete cds.
E01187 - DNA encoding human ChE.
BC008396 - Homo sapiens butyrylcholinesterase, mRNA (cDNA clone IMAGE:4286343), complete cds.
BC018141 - Homo sapiens butyrylcholinesterase, mRNA (cDNA clone MGC:9475 IMAGE:3916859), complete cds.
AK292063 - Homo sapiens cDNA FLJ75409 complete cds, highly similar to Homo sapiens butyrylcholinesterase (BCHE), mRNA.
DQ891041 - Synthetic construct clone IMAGE:100003671; FLH168761.01X; RZPDo839C1194D butyrylcholinesterase (BCHE) gene, encodes complete protein.
DQ894220 - Synthetic construct Homo sapiens clone IMAGE:100008680; FLH168757.01L; RZPDo839C1193D butyrylcholinesterase (BCHE) gene, encodes complete protein.
JD350096 - Sequence 331120 from Patent EP1572962.
JD349571 - Sequence 330595 from Patent EP1572962.
JD081512 - Sequence 62536 from Patent EP1572962.
JD503271 - Sequence 484295 from Patent EP1572962.
JD285071 - Sequence 266095 from Patent EP1572962.
JD544869 - Sequence 525893 from Patent EP1572962.
CU676204 - Synthetic construct Homo sapiens gateway clone IMAGE:100020786 5' read BCHE mRNA.
E01186 - DNA encoding protein which has human ChE activity.
JD107937 - Sequence 88961 from Patent EP1572962.
JD251182 - Sequence 232206 from Patent EP1572962.
JD493199 - Sequence 474223 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P06276 (Reactome details) participates in the following event(s):

R-HSA-9023617 Butyrylcholinesterase hydrolyzes acyl Ghrelin
R-HSA-372519 AcCho is hydrolyzed to Cho and acetate by ACHE
R-HSA-422085 Synthesis, secretion, and deacylation of Ghrelin
R-HSA-112311 Neurotransmitter clearance
R-HSA-1483191 Synthesis of PC
R-HSA-2980736 Peptide hormone metabolism
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-1483206 Glycerophospholipid biosynthesis
R-HSA-392499 Metabolism of proteins
R-HSA-112316 Neuronal System
R-HSA-1483257 Phospholipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K7P8, CHE1, CHLE_HUMAN, ENST00000264381.1, ENST00000264381.2, ENST00000264381.3, ENST00000264381.4, ENST00000264381.5, ENST00000264381.6, ENST00000264381.7, NM_000055, P06276, uc003fem.1, uc003fem.2, uc003fem.3, uc003fem.4, uc003fem.5, uc003fem.6
UCSC ID: ENST00000264381.8
RefSeq Accession: NM_000055
Protein: P06276 (aka CHLE_HUMAN)
CCDS: CCDS3198.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.