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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]
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 Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include ion channel activity. An important paralog of this gene is CHRNA4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | IEA | -- |
GO:0005216 | ion channel activity | IEA,TAS | 6688857 |
GO:0005230 | extracellular ligand-gated ion channel activity | IEA | -- |
GO:0015464 | contributes_to acetylcholine receptor activity | TAS,ISS | 8872460 |
GO:0022848 | contributes_to acetylcholine-gated cation-selective channel activity | IEA,ISS | 8872460 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005886 | plasma membrane | IEA,TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO:0005892 | acetylcholine-gated channel complex | ISS | 8872460 |
GO:0009986 | cell surface | IEA,IDA | 12928480 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Postsynaptic nicotinic acetylcholine receptors | ||
2 | Transmission across Chemical Synapses |
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3 | Peptide ligand-binding receptors | ||
4 | Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics | ||
5 | Agrin Interactions at Neuromuscular Junction |
Agrin Interactions at Neuromuscular Junction
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003009 | skeletal muscle contraction | IEA,IMP | 8872460 |
GO:0006811 | ion transport | IEA | -- |
GO:0006812 | cation transport | IEA | -- |
GO:0007165 | signal transduction | TAS,IBA | 21873635 |
GO:0007268 | chemical synaptic transmission | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Mecamylamine | Approved, Investigational | Pharma | Channel blocker, antagonist | 29 | ||
Pancuronium | Approved | Pharma | Antagonist, antagonist | 0 | ||
Succinylcholine | Approved | Pharma | Agonist, Full agonist, antagonist | 69 | ||
Lamotrigine | Approved, Investigational | Pharma | Target, inhibitor | 5-HT inhibitor | 201 | |
Acetylcysteine | Approved, Investigational | Pharma | Antioxidant;mucolytic agent | 427 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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 |
3-Bromocytisine | 207390-14-5 | |
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 |
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 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 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CHRNA1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CHRNA1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CHRNA1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CHRNA1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Chrna1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Chrna1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | CHRNA1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CHRNA1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CHRNA1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | chrna1 30 |
|
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MGC76192 30 |
|
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African clawed frog (Xenopus laevis) |
Amphibia | Xl.1117 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | chrna1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | nAcR&bgr;-96A 32 |
|
|
|
nAcRalpha-80B 31 32 |
|
OneToMany | |||
nAcRbeta-96A 31 |
|
OneToMany | |||
nAcRalpha-96Aa 31 32 |
|
OneToMany | |||
nAcRalpha-96Ab 31 32 |
|
OneToMany | |||
nAcRalpha-30D 32 |
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nAcR&bgr;-21C 32 |
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nAcRalpha-7E 31 32 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | acr-2 32 |
|
|
|
unc-63 31 32 |
|
OneToMany | |||
unc-38 31 32 |
|
OneToMany | |||
lev-1 32 |
|
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acr-3 32 |
|
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ZK973.5 32 |
|
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acr-17 32 |
|
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F18G5.4 32 |
|
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acr-12 31 32 |
|
OneToMany | |||
acr-8 31 32 |
|
OneToMany | |||
acr-13 32 |
|
|
|||
lev-8 31 |
|
OneToMany | |||
deg-3 32 |
|
|
|||
acr-6 31 |
|
OneToMany | |||
acr-5 32 |
|
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|||
F11C7.1 32 |
|
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acr-18 32 |
|
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Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
640790 | Uncertain Significance: Lethal multiple pterygium syndrome | 174,754,271(-) | C/G | MISSENSE_VARIANT | |
646109 | Uncertain Significance: Lethal multiple pterygium syndrome | 174,759,496(-) | T/G | MISSENSE_VARIANT | |
647650 | Uncertain Significance: Lethal multiple pterygium syndrome | 174,759,565(-) | C/T | MISSENSE_VARIANT | |
648665 | Uncertain Significance: Lethal multiple pterygium syndrome; Congenital myasthenic syndrome | 174,748,210(-) | G/A | MISSENSE_VARIANT | |
653404 | Uncertain Significance: Lethal multiple pterygium syndrome | 174,749,970(-) | A/T | MISSENSE_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myasthenic syndrome, congenital, 1b, fast-channel |
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myasthenic syndrome, congenital, 1a, slow-channel |
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multiple pterygium syndrome, lethal type |
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slow-channel congenital myasthenic syndrome |
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postsynaptic congenital myasthenic syndromes |
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