Seroatlas · Human Serome Atlas

BCHE

Cholinesterase

Also known as: CHE1, CHE2, CHLE_HUMAN, E1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P06276
Gene
BCHE
Ensembl
ENSG00000114200
Chromosome
3
Canonical length
602 aa
Protein class
Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
Secretome location
Secreted to blood
Quaternary structure
Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

602 residues, UniProt reviewed canonical sequence.

>P06276|BCHE
     1  MHSKVTIICI RFLFWFLLLC MLIGKSHTED DIIIATKNGK VRGMNLTVFG GTVTAFLGIP
    61  YAQPPLGRLR FKKPQSLTKW SDIWNATKYA NSCCQNIDQS FPGFHGSEMW NPNTDLSEDC
   121  LYLNVWIPAP KPKNATVLIW IYGGGFQTGT SSLHVYDGKF LARVERVIVV SMNYRVGALG
   181  FLALPGNPEA PGNMGLFDQQ LALQWVQKNI AAFGGNPKSV TLFGESAGAA SVSLHLLSPG
   241  SHSLFTRAIL QSGSFNAPWA VTSLYEARNR TLNLAKLTGC SRENETEIIK CLRNKDPQEI
   301  LLNEAFVVPY GTPLSVNFGP TVDGDFLTDM PDILLELGQF KKTQILVGVN KDEGTAFLVY
   361  GAPGFSKDNN SIITRKEFQE GLKIFFPGVS EFGKESILFH YTDWVDDQRP ENYREALGDV
   421  VGDYNFICPA LEFTKKFSEW GNNAFFYYFE HRSSKLPWPE WMGVMHGYEI EFVFGLPLER
   481  RDNYTKAEEI LSRSIVKRWA NFAKYGNPNE TQNNSTSWPV FKSTEQKYLT LNTESTRIMT
   541  KLRAQQCRFW TSFFPKVLEM TGNIDEAEWE WKAGFHRWNN YMMDWKNQFN DYTSKKESCV
   601  GL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BCHE can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.24
Highest tissue expression
490 nTPM

Expression across tissuesHPA

Tissue

  • liver: 490 nTPM
  • fallopian tube: 39 nTPM
  • endometrium: 38 nTPM
  • colon: 34 nTPM
  • seminal vesicle: 30 nTPM
  • adipose tissue: 29 nTPM

Single-cell type

  • hepatocytes: 566 nCPM
  • oligodendrocyte progenitor cells: 245 nCPM
  • mesothelial cells: 233 nCPM
  • smooth muscle cells: 174 nCPM
  • corticotrophs: 90 nCPM
  • bergmann glia: 61 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • thalamus: 17 nTPM
  • amygdala: 11 nTPM
  • midbrain: 10 nTPM
  • white matter: 10 nTPM
  • medulla oblongata: 7.5 nTPM
  • hippocampal formation: 7.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BCHE.

Disease | AllUniProt

Conditions BCHE is implicated in, by any mechanism.

  • Butyrylcholinesterase deficiency (BCHED) MIM:617936

Disease | GeneticClinVar

58 pathogenic / likely-pathogenic of 228 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Deficiency of butyrylcholinesterase
  • BCHE-related disorder
  • Autosomal recessive BCHE-related disorders
  • Postanesthetic apnea
  • BCHE, H variant

Disease | ImmuneIEDB

Conditions an epitope on BCHE was assayed in.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.33
gnomAD pLI
0
gnomAD missense Z
-1.04
DepMap mean gene effect
0.04
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BCHE as an antibody target. Whether an autoantibody or antibody against BCHE could matter depends on whether native BCHE is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BCHE is annotated as secreted, so native BCHE circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label BCHE as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BCHE. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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