CHRNA1
entrez
1134
canonical
uniprot
P02708
canonical
ensembl
ENSG00000138435
resolver
ensp
ENSP00000261007
resolver
ensp
ENSP00000261008
resolver
genesymbol
CHRNA1
resolver
genesymbol_syn
ACHRA
resolver
genesymbol_syn
CHNRA
resolver
hgnc
HGNC:1955
resolver
uniprot
B4DRV6
resolver
uniprot
D3DPE7
resolver
uniprot
D3DPE8
resolver
uniprot
Q53SH4
resolver
uniprot_entry
ACHA_HUMAN
resolver
uniprot_entry
Q53SH4_HUMAN
resolver
uniprot_sec
B4DRV6
resolver
uniprot_sec
D3DPE7
resolver
uniprot_sec
D3DPE8
resolver
amino_acid_sequence
MEPWPLLLLFSLCSAGLVLGSEHETRLVAKLFKDYSSVVRPVEDHRQVVEVTVGLQLIQLINVDEVNQIVTTNVRLKQQWVDYNLKWNPDDYGGVKKIHIPSEKIWRPDLVLYNNADGDFAIVKFTKVLLQYTGHITWTPPAIFKSYCEIIVTHFPFDEQNCSMKLGTWTYDGSVVAINPESDQPDLSNFMESGEWVIKESRGWKHSVTYSCCPDTPYLDITYHFVMQRLPLYFIVNVIIPCLLFSFLTGLVFYLPTDSGEKMTLSISVLLSLTVFLLVIVELIPSTSSAVPLIGKYMLFTMVFVIASIIITVIVINTHHRSPSTHVMPNWVRKVFIDTIPNIMFFSTMKRPSREKQDKKIFTEDIDISDISGKPGPPPMGFHSPLIKHPEVKSAIEGIKYIAETMKSDQESNNAAAEWKYVAMVMDHILLGVFMLVCIIGTLAVFAGRLIELNQQG
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.; DISEASE: 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.; DISEASE: 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 variants affecting the gene represented in this entry.; DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: [Isoform 1]: Upon acetylcholine binding, 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. {ECO:0000269|PubMed:27375219}.; FUNCTION: [Isoform 2]: Non functional acetylcholine receptor alpha subunit which is not integrated into functional acetylcholine-gated cation-selective channels. {ECO:0000269|PubMed:8788941}.
uniprot
proteins
mass_dalton
51839
uniprot
proteins
mutagenesis
MUTAGEN 261; /note="E->Q: Changed acetylcholine-gated cation-selective channel activity."; /evidence="ECO:0000269|PubMed:8788941"; MUTAGEN 275; /note="V->A: Increased length of channel opening."; /evidence="ECO:0000269|PubMed:27375219
uniprot
proteins
protein_family
Acetylcholine receptor (TC 1.A.9.1) subfamily
uniprot
proteins
protein_family
Alpha-1/CHRNA1 sub-subfamily
uniprot
proteins
protein_family
Ligand-gated ion channel (TC 1.A.9) family
uniprot
proteins
pubmed
10195214
uniprot
proteins
pubmed
12588888
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15079006
uniprot
proteins
pubmed
15609996
uniprot
proteins
pubmed
16685696
uniprot
proteins
pubmed
1694127
uniprot
proteins
pubmed
18252226
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
2449458
uniprot
proteins
pubmed
27375219
uniprot
proteins
pubmed
28440223
uniprot
proteins
pubmed
3338555
uniprot
proteins
pubmed
6688857
uniprot
proteins
pubmed
7619526
uniprot
proteins
pubmed
7725386
uniprot
proteins
pubmed
8441631
uniprot
proteins
pubmed
8788941
uniprot
proteins
pubmed
8872460
uniprot
proteins
pubmed
9158151
uniprot
proteins
pubmed
9221765
uniprot
proteins
sequence_length
457
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Postsynaptic cell membrane {ECO:0000305|PubMed:27375219}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:27375219}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 233..253; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 265..285; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 297..317; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 428..448; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins