Seroatlas · Human Serome Atlas

CHRNB1

Acetylcholine receptor subunit beta

Also known as: ACHB_HUMAN, CHRNB

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

Protein identityUniProt · HPA

UniProt accession
P11230
Gene
CHRNB1
Ensembl
ENSG00000170175
Chromosome
17
Canonical length
501 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

501 residues, UniProt reviewed canonical sequence.

>P11230|CHRNB1
     1  MTPGALLMLL GALGAPLAPG VRGSEAEGRL REKLFSGYDS SVRPAREVGD RVRVSVGLIL
    61  AQLISLNEKD EEMSTKVYLD LEWTDYRLSW DPAEHDGIDS LRITAESVWL PDVVLLNNND
   121  GNFDVALDIS VVVSSDGSVR WQPPGIYRSS CSIQVTYFPF DWQNCTMVFS SYSYDSSEVS
   181  LQTGLGPDGQ GHQEIHIHEG TFIENGQWEI IHKPSRLIQP PGDPRGGREG QRQEVIFYLI
   241  IRRKPLFYLV NVIAPCILIT LLAIFVFYLP PDAGEKMGLS IFALLTLTVF LLLLADKVPE
   301  TSLSVPIIIK YLMFTMVLVT FSVILSVVVL NLHHRSPHTH QMPLWVRQIF IHKLPLYLRL
   361  KRPKPERDLM PEPPHCSSPG SGWGRGTDEY FIRKPPSDFL FPKPNRFQPE LSAPDLRRFI
   421  DGPNRAVALL PELREVVSSI SYIARQLQEQ EDHDALKEDW QFVAMVVDRL FLWTFIIFTS
   481  VGTLVIFLDA TYHLPPPDPF P

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHRNB1 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)
0.37
Highest tissue expression
151 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 151 nTPM
  • tongue: 54 nTPM
  • adrenal gland: 29 nTPM
  • liver: 16 nTPM
  • pancreas: 16 nTPM
  • amygdala: 15 nTPM

Single-cell type

  • bergmann glia: 7.5 nCPM
  • astrocytes: 6.8 nCPM
  • oligodendrocytes: 5.4 nCPM
  • papillary tip epithelial cells: 3.6 nCPM
  • loop of henle epithelial cells: 3.4 nCPM
  • microglia: 3.2 nCPM

Immune cell

  • eosinophil: 14 nTPM
  • NK-cell: 11 nTPM
  • non-classical monocyte: 11 nTPM
  • basophil: 10 nTPM
  • naive CD8 T-cell: 9.2 nTPM
  • memory CD4 T-cell: 8.7 nTPM

Brain region

  • choroid plexus: 11 nTPM
  • white matter: 9.4 nTPM
  • basal ganglia: 8.8 nTPM
  • medulla oblongata: 8.4 nTPM
  • cerebellum: 7.9 nTPM
  • spinal cord: 7.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHRNB1.

Disease | AllUniProt

Conditions CHRNB1 is implicated in, by any mechanism.

  • Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) MIM:616313
  • Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CMS2C) MIM:616314

Disease | GeneticClinVar

35 pathogenic / likely-pathogenic of 596 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Congenital myasthenic syndrome 2A
  • Congenital myasthenic syndrome 2C
  • See cases
  • Autosomal recessive CHRNB1-related disorders

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
gnomAD pLI
0
gnomAD missense Z
0.44
DepMap mean gene effect
-0.05
DepMap dependency class
none

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 CHRNB1 as an antibody target. Whether an autoantibody or antibody against CHRNB1 could matter depends on whether native CHRNB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CHRNB1 is annotated at the cell surface, where native CHRNB1 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 CHRNB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CHRNB1. 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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