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Aliases for CHRNA1 Gene

Aliases for CHRNA1 Gene

  • Cholinergic Receptor Nicotinic Alpha 1 Subunit 2 3 5
  • Cholinergic Receptor, Nicotinic, Alpha Polypeptide 1 (Muscle) 2 3
  • Acetylcholine Receptor, Nicotinic, Alpha 1 (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic, Alpha 1 (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic Alpha 1 2 3
  • ACHRA 3 4
  • Nicotinic Acetylcholine Receptor Alpha Subunit 3
  • Muscle Nicotinic Acetylcholine Receptor 3
  • Nicotinic Cholinergic Receptor Alpha 1 3
  • Acetylcholine Receptor Subunit Alpha 3
  • CMS1A 3
  • ACHRD 3
  • CMS1B 3
  • CMS2A 3
  • FCCMS 3
  • SCCMS 3
  • CHRNA 3
  • CHNRA 4

External Ids for CHRNA1 Gene

Previous HGNC Symbols for CHRNA1 Gene


Previous GeneCards Identifiers for CHRNA1 Gene

  • GC02M173665
  • GC02M174273
  • GC02M175576
  • GC02M175815
  • GC02M175814
  • GC02M175437
  • GC02M175320
  • GC02M175612
  • GC02M167492

Summaries for CHRNA1 Gene

Entrez Gene Summary for CHRNA1 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]

GeneCards Summary for CHRNA1 Gene

CHRNA1 (Cholinergic Receptor Nicotinic Alpha 1 Subunit) is a Protein Coding gene. Diseases associated with CHRNA1 include Myasthenic Syndrome, Congenital, 1B, Fast-Channel and Myasthenic Syndrome, Congenital, 1A, Slow-Channel. Among its related pathways are Transmission across Chemical Synapses and Acetylcholine Binding And Downstream Events. Gene Ontology (GO) annotations related to this gene include ion channel activity. An important paralog of this gene is CHRNA3.

UniProtKB/Swiss-Prot for CHRNA1 Gene

  • After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

Gene Wiki entry for CHRNA1 Gene

Additional gene information for CHRNA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNA1 Gene

Genomics for CHRNA1 Gene

GeneHancer (GH) Regulatory Elements for CHRNA1 Gene

Promoters and enhancers for CHRNA1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I174760 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 559.1 +24.3 24323 5.9 CTCF USF1 FOXA2 JUN CEBPG RAD21 ZFHX2 POLR2A IKZF2 RUNX3 CHRNA1 CHN1 ENSG00000236449 LOC105373750 H3F3AP4 GC02P174645
GH02I174785 Enhancer 1 Ensembl ENCODE dbSUPER 550.8 +0.6 593 4.2 SP3 RFX1 ZNF740 JUN GTF2A2 ETS1 SP1 JUND POLR2A VEZF1 CHRNA1 CHN1 LOC105373750 GC02P174645
GH02I174843 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 -58.0 -58030 4.6 PKNOX1 JUN ZNF384 ZNF335 ZNF316 POLR2A NFE2 RCOR1 FOSL2 FOS CHN1 CHRNA1 GC02P174978
GH02I174967 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.7 -183.3 -183341 7.5 JUN SIN3A PRDM10 FOSL2 FOS RFX1 RXRA REST SP1 OSR2 CHN1 CHRNA1 RNU6-763P GC02P174978
GH02I175061 Enhancer 0.9 ENCODE 10.4 -275.0 -275007 2.1 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 ETS1 TCF12 ZNF280A SLC30A9 ATP5MC3 CHRNA1 CHN1 ENSG00000229750 MIR933 ATF2 GC02M175073 RPL21P31
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CHRNA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHRNA1 gene promoter:

Genomic Locations for CHRNA1 Gene

Genomic Locations for CHRNA1 Gene
40,344 bases
Minus strand

Genomic View for CHRNA1 Gene

Genes around CHRNA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRNA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRNA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRNA1 Gene

Proteins for CHRNA1 Gene

  • Protein details for CHRNA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Acetylcholine receptor subunit alpha
    Protein Accession:
    Secondary Accessions:
    • B4DRV6
    • D3DPE8

    Protein attributes for CHRNA1 Gene

    482 amino acids
    Molecular mass:
    54546 Da
    Quaternary structure:
    • Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains. The muscle heteropentamer composed of alpha-1, beta-1, delta, epsilon subunits interacts with the alpha-conotoxin ImII (PubMed:15609996).
    • Sequence=CAA49705.1; Type=Frameshift; Positions=104; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CHRNA1 Gene

    Alternative splice isoforms for CHRNA1 Gene


neXtProt entry for CHRNA1 Gene

Post-translational modifications for CHRNA1 Gene

  • Glycosylation at posLast=186186
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CHRNA1 Gene

Domains & Families for CHRNA1 Gene

Gene Families for CHRNA1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-1/CHRNA1 sub-subfamily.
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-1/CHRNA1 sub-subfamily.
genes like me logo Genes that share domains with CHRNA1: view

Function for CHRNA1 Gene

Molecular function for CHRNA1 Gene

GENATLAS Biochemistry:
cholinergic receptor,nicotinic,alpha 1 polypeptide,muscle
UniProtKB/Swiss-Prot Function:
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

Phenotypes From GWAS Catalog for CHRNA1 Gene

Gene Ontology (GO) - Molecular Function for CHRNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA,TAS 6688857
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0015276 ligand-gated ion channel activity TAS --
GO:0015464 contributes_to acetylcholine receptor activity IEA,ISS 8872460
GO:0022848 contributes_to acetylcholine-gated cation-selective channel activity IEA,ISS 8872460
genes like me logo Genes that share ontologies with CHRNA1: view
genes like me logo Genes that share phenotypes with CHRNA1: view

Human Phenotype Ontology for CHRNA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHRNA1 Gene

MGI Knock Outs for CHRNA1:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CHRNA1 Gene

Localization for CHRNA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRNA1 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHRNA1 gene
Compartment Confidence
plasma membrane 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHRNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS,IEA --
GO:0005892 acetylcholine-gated channel complex ISS,IEA 8872460
GO:0009986 cell surface IDA,IEA 12928480
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CHRNA1: view

Pathways & Interactions for CHRNA1 Gene

genes like me logo Genes that share pathways with CHRNA1: view

SIGNOR curated interactions for CHRNA1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CHRNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IMP 8872460
GO:0006810 transport TAS,IEA 7619526
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0007165 signal transduction TAS 7619526
genes like me logo Genes that share ontologies with CHRNA1: view

Drugs & Compounds for CHRNA1 Gene

(101) Drugs for CHRNA1 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mecamylamine Approved, Investigational Pharma Channel blocker, antagonist 27
Pancuronium Approved Pharma Antagonist, antagonist 3
Succinylcholine Approved Pharma Full agonist, Agonist, antagonist 57
Galantamine Approved Pharma Target, allosteric modulator Acetylcholinesterase inhibitor 106
Acetylcysteine Approved, Investigational Pharma Antioxidant;mucolytic agent 352

(5) Additional Compounds for CHRNA1 Gene - From: IUPHAR and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
alpha-conotoxin GI
alpha-conotoxin MI

(87) ApexBio Compounds for CHRNA1 Gene

Compound Action Cas Number
(-)-Lobeline hydrochloride 134-63-4
(+)-Anabasine hydrochloride 53912-89-3
(+)-Tubocurarine chloride 57-94-3
(±)-Anatoxin A fumarate 1219922-30-1
(±)-Epibatidine dopamine receptor antagonist 148152-66-3
1-Acetyl-4-methylpiperazine hydrochloride 144205-68-5
3-Bromocytisine 207390-14-5
4-Acetyl-1,1-dimethylpiperazinium iodide 75667-84-4
5-Iodo-A-85380, 5-trimethylstannyl N-BOC derivative 213766-21-3
Acetylcholine Chloride Major transmitter at many nervous sites 60-31-1
Acetylcysteine Antioxidant;mucolytic agent 616-91-1
Atropine MAChRs antagonist 5908-99-6
Benzethonium Chloride 121-54-0
Benzoquinonium dibromide inhibitor of AChR and ganglion 311-09-1
Bethanechol chloride Muscarinic receptor agonist 590-63-6
bPiDDB 525596-66-1
Carbamoylcholine chloride 51-83-2
Catestatin 142211-96-9
CCMI 917837-54-8
Chlorisondamine diiodide 96750-66-2
Decamethonium Bromide 541-22-0
Desformylflustrabromine hydrochloride 951322-11-5
Dihydro-β-erythroidine hydrobromide antagonist of nAChRs 29734-68-7
Diphemanil Methylsulfate 62-97-5
DMAB-anabaseine dihydrochloride 154149-38-9
EVP-6124 NAChRs agonist 550999-75-2
Flavoxate hydrochloride 3717-88-2
Galanthamine HBr Acetylcholinesterase inhibitor 1953-04-4
Gallamine Triethiodide 65-29-2
GTS 21 dihydrochloride nAChRs agonist, novel 156223-05-1
Hexamethonium Bromide 55-97-0
Homatropine Bromide Muscarinic AChR antagonist 51-56-9
Homatropine Methylbromide Muscarinic AChR antagonist 80-49-9
Hyoscyamine 101-31-5
Ipratropium Bromide 22254-24-6
Ivermectin B1a-d2
LX-1031 TPH inhibitor 945976-76-1
LY 2087101 913186-74-0
LY2119620 886047-22-9
Mecamylamine hydrochloride 826-39-1
Methscopolamine Muscarinic acetylcholine receptor blocker 155-41-9
Methyllycaconitine citrate 112825-05-5
MG 624 77257-42-2
Neostigmine Bromide Cholinesterase inhibitor 114-80-7
Nicotine Difartrate 65-31-6
Nitenpyram 150824-47-8
NS 1738 501684-93-1
Orphenadrine Citrate Antiparkinsonian and analgesic drug 4682-36-4
Otilonium Bromide 26095-59-0
Oxybutynin 5633-20-5
Oxybutynin chloride 1508-65-2
Pancuronium dibromide AChR antagonist 15500-66-0
Paroxetine HCl Antidepressant agents 78246-49-8
Pentoxyverine Citrate 23142-01-0
PHA 543613 hydrochloride 478149-53-0
PHA 568487 527680-57-5
Pilocarpine HCl 54-71-7
PNU 282987 123464-89-1
PNU-120596 α7 nAChR modulator,positive allosteric 501925-31-1
Pregnenolone 145-13-1
Rivastigmine Tartrate 129101-54-8
RJR 2429 dihydrochloride 1021418-53-0
RJR-2403 Nicotinic receptor agonist,highly selective 15585-43-0
RJR-2403 hemioxalate Neuronal nicotinic receptor agonist
RJR-2403 oxalate Nicotinic receptor agonist 220662-95-3
Rocuronium Bromide TGF-βR I kinase inhibitor 119302-91-9
RuBi-Nicotine 1256362-30-7
S 24795 304679-75-2
Sazetidine A dihydrochloride 1197329-42-2
SEN 12333 874450-44-9
SIB 1553A hydrochloride 191611-89-9
SR 16584 1150153-86-8
Succinylcholine Chloride Dihydrate 6101-15-1
TC 1698 dihydrochloride 787587-06-8
TC 2559 difumarate 212332-35-9
Tiotropium Bromide hydrate Muscarinic antagonist 139404-48-1
TMPH hydrochloride 849461-91-2
TQS 353483-92-8
Tropicamide Antimuscarinic drug 1508-75-4
Trospium chloride Antimuscarinic agent 10405-02-4
UB 165 fumarate 200432-86-6
Varenicline Tartrate Subtype-selective agonist of α4β2 nicotinic receptors,orally active 375815-87-5
Vecuronium Bromide Nonpolarizing neuromuscular relaxant 50700-72-6
α-Bungarotoxin 11032-79-4
α-Conotoxin AuIB 216299-21-7
α-Conotoxin EI 170663-33-9
α-Conotoxin PnIA 705300-84-1
genes like me logo Genes that share compounds with CHRNA1: view

Drug Products

Transcripts for CHRNA1 Gene

Unigene Clusters for CHRNA1 Gene

Cholinergic receptor, nicotinic, alpha 1 (muscle):
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHRNA1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - - - - -
SP5: - - - -
SP6: -

Relevant External Links for CHRNA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CHRNA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHRNA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHRNA1 Gene

This gene is overexpressed in Muscle - Skeletal (x48.7).

NURSA nuclear receptor signaling pathways regulating expression of CHRNA1 Gene:


SOURCE GeneReport for Unigene cluster for CHRNA1 Gene:


mRNA Expression by UniProt/SwissProt for CHRNA1 Gene:

Tissue specificity: Isoform 1 is only expressed in skeletal muscle. Isoform 2 is constitutively expressed in skeletal muscle, brain, heart, kidney, liver, lung and thymus.

Evidence on tissue expression from TISSUES for CHRNA1 Gene

  • Muscle(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRNA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
  • chest wall
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
  • kidney
  • liver
  • stomach
  • pelvis
  • placenta
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
  • blood
  • blood vessel
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CHRNA1: view

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for CHRNA1 Gene

Orthologs for CHRNA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CHRNA1 33 34
  • 98.41 (n)
(Bos Taurus)
Mammalia CHRNA1 33 34
  • 92.85 (n)
(Canis familiaris)
Mammalia CHRNA1 33 34
  • 91.98 (n)
(Monodelphis domestica)
Mammalia CHRNA1 34
  • 91 (a)
(Mus musculus)
Mammalia Chrna1 33 16 34
  • 88.91 (n)
(Rattus norvegicus)
Mammalia Chrna1 33
  • 88.18 (n)
(Ornithorhynchus anatinus)
Mammalia CHRNA1 34
  • 88 (a)
(Gallus gallus)
Aves CHRNA1 33 34
  • 80.37 (n)
(Anolis carolinensis)
Reptilia CHRNA1 34
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia chrna1 33
  • 72.15 (n)
MGC76192 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.1117 33
(Danio rerio)
Actinopterygii chrna1 33 34
  • 72.89 (n)
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-96Aa 35 34
  • 49 (a)
nAcRalpha-7E 35 34
  • 48 (a)
nAcRalpha-96Ab 35 34
  • 47 (a)
nAcRbgr-96A 35
  • 42 (a)
nAcRalpha-80B 35 34
  • 37 (a)
nAcRbeta-96A 34
  • 37 (a)
nAcRalpha-30D 35
  • 30 (a)
nAcRbgr-21C 35
  • 29 (a)
(Caenorhabditis elegans)
Secernentea acr-12 35 34
  • 42 (a)
unc-63 35 34
  • 42 (a)
acr-2 35
  • 40 (a)
unc-38 35 34
  • 39 (a)
lev-1 35
  • 37 (a)
acr-3 35
  • 35 (a)
ZK973.5 35
  • 35 (a)
acr-17 35
  • 33 (a)
acr-8 35 34
  • 32 (a)
F18G5.4 35
  • 31 (a)
acr-13 35
  • 30 (a)
deg-3 35
  • 29 (a)
lev-8 34
  • 29 (a)
acr-5 35
  • 27 (a)
F11C7.1 35
  • 27 (a)
acr-6 34
  • 27 (a)
acr-18 35
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
Species where no ortholog for CHRNA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHRNA1 Gene

Gene Tree for CHRNA1 (if available)
Gene Tree for CHRNA1 (if available)

Paralogs for CHRNA1 Gene

genes like me logo Genes that share paralogs with CHRNA1: view

Variants for CHRNA1 Gene

Sequence variations from dbSNP and Humsavar for CHRNA1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1024674985 uncertain-significance, Congenital Myasthenic Syndrome, Dominant/Recessive, Multiple pterygium syndrome Escobar type 174,747,766(-) G/A 3_prime_UTR_variant
rs112674580 conflicting-interpretations-of-pathogenicity, likely-benign, benign, not specified, Congenital Myasthenic Syndrome, Dominant/Recessive, Multiple pterygium syndrome Escobar type, Lethal multiple pterygium syndrome 174,754,215(-) C/A/G intron_variant
rs115375214 likely-benign, Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/Recessive 174,747,698(-) G/T 3_prime_UTR_variant
rs137852798 pathogenic, uncertain-significance, Myasthenic syndrome, slow-channel congenital, Lethal multiple pterygium syndrome, Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462] 174,753,570(-) G/A/C/T coding_sequence_variant, missense_variant, synonymous_variant
rs137852799 pathogenic, Myasthenic syndrome, slow-channel congenital, Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462] 174,754,233(-) C/A/G/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for CHRNA1 Gene

Variant ID Type Subtype PubMed ID
esv3575313 CNV gain 25503493
esv3584180 CNV loss 25503493
nsv1012645 CNV loss 25217958
nsv459948 CNV loss 19166990
nsv470500 CNV loss 18288195
nsv583668 CNV loss 21841781

Variation tolerance for CHRNA1 Gene

Residual Variation Intolerance Score: 23.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.36; 53.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHRNA1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRNA1 Gene

Disorders for CHRNA1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for CHRNA1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]: Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. {ECO:0000269 PubMed:18252226}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462]: A common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS1A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. {ECO:0000269 PubMed:16685696, ECO:0000269 PubMed:7619526, ECO:0000269 PubMed:8872460, ECO:0000269 PubMed:9158151, ECO:0000269 PubMed:9221765}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B) [MIM:608930]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS1B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. {ECO:0000269 PubMed:10195214, ECO:0000269 PubMed:12588888, ECO:0000269 PubMed:15079006}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=The alpha subunit is the main focus for antibody binding in myasthenia gravis. Myasthenia gravis is characterized by sporadic muscular fatigability and weakness, occurring chiefly in muscles innervated by cranial nerves, and characteristically improved by cholinesterase-inhibiting drugs.

Additional Disease Information for CHRNA1

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Publications for CHRNA1 Gene

  1. Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissues. (PMID: 8441631) Talib S … Lebkowski JS (Nucleic acids research 1993) 3 4 22 58
  2. The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon. (PMID: 1694127) Beeson D … Newsom-Davis J (The EMBO journal 1990) 3 4 22 58
  3. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 44 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

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