Seroatlas · Human Serome Atlas

CHRNE

Acetylcholine receptor subunit epsilon

Also known as: ACHE_HUMAN, ACHRE

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

Protein identityUniProt · HPA

UniProt accession
Q04844
Gene
CHRNE
Ensembl
ENSG00000108556
Chromosome
17
Canonical length
493 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

493 residues, UniProt reviewed canonical sequence.

>Q04844|CHRNE
     1  MARAPLGVLL LLGLLGRGVG KNEELRLYHH LFNNYDPGSR PVREPEDTVT ISLKVTLTNL
    61  ISLNEKEETL TTSVWIGIDW QDYRLNYSKD DFGGIETLRV PSELVWLPEI VLENNIDGQF
   121  GVAYDANVLV YEGGSVTWLP PAIYRSVCAV EVTYFPFDWQ NCSLIFRSQT YNAEEVEFTF
   181  AVDNDGKTIN KIDIDTEAYT ENGEWAIDFC PGVIRRHHGG ATDGPGETDV IYSLIIRRKP
   241  LFYVINIIVP CVLISGLVLL AYFLPAQAGG QKCTVSINVL LAQTVFLFLI AQKIPETSLS
   301  VPLLGRFLIF VMVVATLIVM NCVIVLNVSQ RTPTTHAMSP RLRHVLLELL PRLLGSPPPP
   361  EAPRAASPPR RASSVGLLLR AEELILKKPR SELVFEGQRH RQGTWTAAFC QSLGAAAPEV
   421  RCCVDAVNFV AESTRDQEAT GEEVSDWVRM GNALDNICFW AALVLFSVGS SLIFLGAYFN
   481  RVPDLPYAPC IQP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHRNE 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
Cell surface
Secreted
No
Transmembrane segments
4
Mean surface accessibility (rSASA)
0.35
Highest tissue expression
58 nTPM

Expression across tissuesHPA

Tissue

  • heart muscle: 58 nTPM
  • pituitary gland: 28 nTPM
  • retina: 4.8 nTPM
  • liver: 3.4 nTPM
  • skin: 2.2 nTPM
  • skeletal muscle: 2 nTPM

Single-cell type

  • late spermatids: 301 nCPM
  • epicardial cells: 89 nCPM
  • corticotrophs: 65 nCPM
  • oocytes: 65 nCPM
  • rod photoreceptor cells: 64 nCPM
  • neutrophils: 59 nCPM

Immune cell

  • gdT-cell: 2.5 nTPM
  • eosinophil: 1.3 nTPM
  • neutrophil: 1.1 nTPM
  • memory CD8 T-cell: 0.8 nTPM
  • NK-cell: 0.8 nTPM
  • naive CD8 T-cell: 0.7 nTPM

Brain region

  • cerebellum: 2 nTPM
  • medulla oblongata: 1.4 nTPM
  • cerebral cortex: 1.3 nTPM
  • hippocampal formation: 1.3 nTPM
  • pons: 1.1 nTPM
  • white matter: 1.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHRNE.

Disease | AllUniProt

Conditions CHRNE is implicated in, by any mechanism.

  • Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) MIM:605809
  • Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) MIM:616324
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CMS4C) MIM:608931

Disease | GeneticClinVar

265 pathogenic / likely-pathogenic of 1,466 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.99
gnomAD pLI
0
gnomAD missense Z
-0.85
DepMap mean gene effect
-0.06
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 CHRNE as an antibody target. Whether an autoantibody or antibody against CHRNE could matter depends on whether native CHRNE is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CHRNE is annotated at the cell surface, where native CHRNE is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

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

Canonical record: https://seroatlas.com/gene/CHRNE. 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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