Seroatlas · Human Serome Atlas

CHRNA1

Acetylcholine receptor subunit alpha

Also known as: ACHA_HUMAN, CHRNA

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

Protein identityUniProt · HPA

UniProt accession
P02708
Gene
CHRNA1
Ensembl
ENSG00000138435
Chromosome
2
Canonical length
457 aa
Protein class
Disease related genes, Human disease related genes, Predicted membrane proteins, Transporters
Subcellular location
Plasma membrane

OverviewNCBI Gene

The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]

Canonical amino-acid sequenceUniProt

457 residues, UniProt reviewed canonical sequence.

>P02708|CHRNA1
     1  MEPWPLLLLF SLCSAGLVLG SEHETRLVAK LFKDYSSVVR PVEDHRQVVE VTVGLQLIQL
    61  INVDEVNQIV TTNVRLKQQW VDYNLKWNPD DYGGVKKIHI PSEKIWRPDL VLYNNADGDF
   121  AIVKFTKVLL QYTGHITWTP PAIFKSYCEI IVTHFPFDEQ NCSMKLGTWT YDGSVVAINP
   181  ESDQPDLSNF MESGEWVIKE SRGWKHSVTY SCCPDTPYLD ITYHFVMQRL PLYFIVNVII
   241  PCLLFSFLTG LVFYLPTDSG EKMTLSISVL LSLTVFLLVI VELIPSTSSA VPLIGKYMLF
   301  TMVFVIASII ITVIVINTHH RSPSTHVMPN WVRKVFIDTI PNIMFFSTMK RPSREKQDKK
   361  IFTEDIDISD ISGKPGPPPM GFHSPLIKHP EVKSAIEGIK YIAETMKSDQ ESNNAAAEWK
   421  YVAMVMDHIL LGVFMLVCII GTLAVFAGRL IELNQQG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHRNA1 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)
0.34
Highest tissue expression
160 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 160 nTPM
  • tongue: 19 nTPM
  • hippocampal formation: 6.2 nTPM
  • salivary gland: 3.4 nTPM
  • pituitary gland: 3.1 nTPM
  • prostate: 1.9 nTPM

Single-cell type

  • myosatellite cells: 167 nCPM
  • myonuclei: 62 nCPM
  • thymic myoid cells: 56 nCPM
  • late primary spermatocytes: 14 nCPM
  • early spermatids: 13 nCPM
  • late spermatids: 11 nCPM

Immune cell

  • plasmacytoid DC: 0.5 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • cerebral cortex: 27 nTPM
  • hippocampal formation: 11 nTPM
  • white matter: 1.2 nTPM
  • medulla oblongata: 0.8 nTPM
  • pons: 0.8 nTPM
  • basal ganglia: 0.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHRNA1.

Disease | AllUniProt

Conditions CHRNA1 is implicated in, by any mechanism.

  • Multiple pterygium syndrome, lethal type (LMPS) MIM:253290
  • Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) MIM:601462
  • Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B) MIM:608930

Disease | GeneticClinVar

49 pathogenic / likely-pathogenic of 586 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on CHRNA1 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)
1.08
gnomAD pLI
0
gnomAD missense Z
0.72
DepMap mean gene effect
-0.06
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 CHRNA1 as an antibody target. Whether an autoantibody or antibody against CHRNA1 could matter depends on whether native CHRNA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CHRNA1 is annotated at the cell surface, where native CHRNA1 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 CHRNA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CHRNA1. 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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