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BCHE butyrylcholinesterase [ Homo sapiens (human) ]

Gene ID: 590, updated on 15-Sep-2014
Official Symbol
BCHEprovided by HGNC
Official Full Name
butyrylcholinesteraseprovided by HGNC
Primary source
HGNC:HGNC:983
See related
Ensembl:ENSG00000114200; HPRD:01519; MIM:177400; Vega:OTTHUMG00000158131
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
E1; CHE1; CHE2
Summary
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]
See BCHE in Epigenomics, MapViewer
Location:
3q26.1-q26.2
Exon count:
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 3 NC_000003.12 (165772904..165837472, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (165490692..165555260, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene SLIT and NTRK-like family, member 3 Neighboring gene uncharacterized LOC101928430 Neighboring gene MT-ND4 pseudogene 17 Neighboring gene MT-ND3 pseudogene 7

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
NHGRI GWA Catalog
Aspirin hydrolysis in plasma is a variable function of butyrylcholinesterase and platelet-activating factor acetylhydrolase 1b2 (PAFAH1b2).
NHGRI GWA Catalog
Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
NHGRI GWA Catalog
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
NHGRI GWA Catalog
GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors.
NHGRI GWA Catalog
  • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
    Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
  • Irinotecan Pathway, organism-specific biosystem (from WikiPathways)
    Irinotecan Pathway, organism-specific biosystemThis pathway shows the biotransformation of the chemotherapy prodrug irinotecan to form the active metabolite SN-38, an inhibitor of DNA topoisomerase I. SN-38 is primarily metabolized to the inactiv...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotransmitter Clearance In The Synaptic Cleft, organism-specific biosystem (from REACTOME)
    Neurotransmitter Clearance In The Synaptic Cleft, organism-specific biosystemNeurotransmitter released in the synaptic cleft binds to specific receptors on the post-synaptic cell and the excess of the neurotransmitter is cleared to prevent over activation of the post-synapti...
  • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
    Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
  • Synthesis of PC, organism-specific biosystem (from REACTOME)
    Synthesis of PC, organism-specific biosystemDe novo (Kennedy pathway) synthesis of phosphatidylcholine (PC) involves phosphorylation of choline (Cho) to phosphocholine (PCho) followed by condensing with cytidine triphosphate (CTP) to form CDP-...
  • Synthesis, secretion, and deacylation of Ghrelin, organism-specific biosystem (from REACTOME)
    Synthesis, secretion, and deacylation of Ghrelin, organism-specific biosystemGhrelin is a peptide hormone of 28 amino acid residues which is acylated at the serine-3 of the mature peptide. Ghrelin is synthesized in several tissues: X/A-like cells of the gastric mucosa (the ma...
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetylcholinesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
acetylcholinesterase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
beta-amyloid binding NAS
Non-traceable Author Statement
more info
PubMed 
catalytic activity NAS
Non-traceable Author Statement
more info
PubMed 
choline binding IEA
Inferred from Electronic Annotation
more info
 
cholinesterase activity IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding NAS
Non-traceable Author Statement
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
choline metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
cocaine metabolic process TAS
Traceable Author Statement
more info
PubMed 
learning IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
neuroblast differentiation IEA
Inferred from Electronic Annotation
more info
 
response to alkaloid IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to folic acid IEA
Inferred from Electronic Annotation
more info
 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission, cholinergic IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
blood microparticle IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum lumen IBA
Inferred from Biological aspect of Ancestor
more info
 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear envelope lumen IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
cholinesterase
Names
cholinesterase
cholinesterase 1
choline esterase II
pseudocholinesterase
butyrylcholine esterase
cholinesterase (serum) 2
acylcholine acylhydrolase
NP_000046.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009031.1 

    Range
    5001..69562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000055.2NP_000046.1  cholinesterase precursor

    See proteins identical to NP_000046.1

    Status: REVIEWED

    Source sequence(s)
    BC018141, BF056152, DA426203
    Consensus CDS
    CCDS3198.1
    UniProtKB/Swiss-Prot
    P06276
    Related
    ENSP00000264381, OTTHUMP00000212636, ENST00000264381, OTTHUMT00000350254
    Conserved Domains (3) summary
    pfam08674
    Location:565602
    AChE_tetra; Acetylcholinesterase tetramerization domain
    COG0657
    Location:125250
    Aes; Esterase/lipase [Lipid metabolism]
    cd00312
    Location:33540
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    165772904..165837472
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247685.1XP_005247742.1  

    See proteins identical to XP_005247742.1

    UniProtKB/TrEMBL
    D3DNN4
    Conserved Domains (3) summary
    pfam08674
    Location:606643
    AChE_tetra; Acetylcholinesterase tetramerization domain
    COG0657
    Location:166291
    Aes; Esterase/lipase [Lipid metabolism]
    cd00312
    Location:74581
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    162859251..162924002
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

    Range
    165453437..165518145
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)