| Gene ID | 1134 |
| Symbol | CHRNA1 |
| Synonymous | ACHRA|ACHRD|CHRNA|CMS1A|CMS1B|CMS2A|FCCMS|SCCMS |
| Full name | cholinergic receptor, nicotinic, alpha 1 (muscle) |
| Gene description | acetylcholine receptor subunit alpha|acetylcholine receptor, nicotinic, alpha 1 (muscle)|cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)|muscle nicotinic acetylcholine receptor|nicotinic acetylcholine receptor alpha subunit|nicotinic choline |
| Cytoband | 2q31.1 |
| Gene type | protein-coding |
| Synonymous | MIM:100690; HGNC:HGNC:1955; Ensembl:ENSG00000138435; HPRD:00007; Vega:OTTHUMG00000132357 |
Pathways and Diseases | Detail |
|---|---|
Pathway | Effects of Botulinum toxin;PID Curated;200160 |
Pathway | ErbB2/ErbB3 signaling events;PID Curated;200119 |
Pathway | Neuroactive ligand-receptor interaction;KEGG PATHWAY;hsa04080 |
Pathway | Synaptic Transmission;Reactome;REACT:13685 |
Pathway | Nicotinic acetylcholine receptor signaling pathway;PANTHER;P00044 |
Disease | Multiple pterygium syndrome, lethal type;OMIM |
Disease | Myopathy;FunDO |
Disease | Myasthenic syndrome, fast-channel congenital;OMIM |
Disease | IMMUNE;GAD |
Disease | Myasthenic syndrome, slow-channel congenital;OMIM |
Disease | autoimmune myasthenia gravis;GAD |
Sequence Information | |
|---|---|
Nucleotide Sequence | >1134 : length: 2094 AGACAAGCACCCAGCCAGAGTGCCAGTGAGAAGCACAGGCCACCACTCTGCCCTGGTCCACACAAGCTCCGGTAGCCCATGGAGCCCTGGCCTCTCCTCCTGCTCTTTAGCCTTTGCTCA GCTGGCCTCGTCCTGGGCTCCGAACATGAGACCCGTCTGGTGGCAAAGCTATTTAAAGACTACAGCAGCGTGGTGCGGCCAGTGGAAGACCACCGCCAGGTCGTGGAGGTCACCGTGGGC CTGCAGCTGATACAGCTCATCAATGTGGATGAAGTAAATCAGATCGTGACAACCAATGTGCGTCTGAAACAGGGTGACATGGTAGATCTGCCACGCCCCAGCTGCGTGACTTTGGGAGTT CCTTTGTTTTCTCATCTGCAGAATGAGCAATGGGTGGATTACAACCTAAAATGGAATCCAGATGACTATGGCGGTGTGAAAAAAATTCACATTCCTTCAGAAAAGATCTGGCGCCCAGAC CTTGTTCTCTATAACAATGCAGATGGTGACTTTGCTATTGTCAAGTTCACCAAAGTGCTCCTGCAGTACACTGGCCACATCACGTGGACACCTCCAGCCATCTTTAAAAGCTACTGTGAG ATCATCGTCACCCACTTTCCCTTTGATGAACAGAACTGCAGCATGAAGCTGGGCACCTGGACCTACGACGGCTCTGTCGTGGCCATCAACCCGGAAAGCGACCAGCCAGACCTGAGCAAC TTCATGGAGAGCGGGGAGTGGGTGATCAAGGAGTCCCGGGGCTGGAAGCACTCCGTGACCTATTCCTGCTGCCCCGACACCCCCTACCTGGACATCACCTACCACTTCGTCATGCAGCGC CTGCCCCTCTACTTCATCGTCAACGTCATCATCCCCTGCCTGCTCTTCTCCTTCTTAACTGGCCTGGTATTCTACCTGCCCACAGACTCAGGGGAGAAGATGACTCTGAGCATCTCTGTC TTACTGTCTTTGACTGTGTTCCTTCTGGTCATCGTGGAGCTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAAAATACATGCTGTTCACCATGGTGTTCGTCATTGCCTCCATC ATCATCACTGTCATCGTCATCAACACACACCACCGCTCACCCAGCACCCATGTCATGCCCAACTGGGTGCGGAAGGTTTTTATCGACACTATCCCAAATATCATGTTTTTCTCCACAATG AAAAGACCATCCAGAGAAAAGCAAGACAAAAAGATTTTTACAGAAGACATTGATATCTCTGACATTTCTGGAAAGCCAGGGCCTCCACCCATGGGCTTCCACTCTCCCCTGATCAAACAC CCCGAGGTGAAAAGTGCCATCGAGGGCATCAAGTACATCGCAGAGACCATGAAGTCAGACCAGGAGTCTAACAATGCGGCGGCAGAGTGGAAGTACGTTGCAATGGTGATGGACCACATA CTCCTCGGAGTCTTCATGCTTGTTTGCATCATCGGAACCCTAGCCGTGTTTGCAGGTCGACTCATTGAATTAAATCAGCAAGGATGAGCAGAAAATGAGCTGAGCTTAGCTCTGCCCTGG AACCTACCAGAGCAGAGAAGGGCAGGAGAGGAAGATTTGTCTACTTGCTCCACTCGCACTTATCAAACGTGTTATATTCCATACTTATTATTGATGATAAGATTTACCTTTATGTAAGTT TATGGCCTTGAAGTGTTTTCATATTGCTTCTCCCTTTAGTTCTGCTGTCTCCCTGAAGAGTGAACCCTCTTTAGTAAATGAAACTAATCACTAAAAAAAGTGTTCATTTCCAGTGTCTGG AAGAGTTTTTGCCAGGATAACCGAGGTTTTCTGTTGCATTGTCATTGCTGTTATATTTATATATTTACTTATTTTGTCTAACCACGAGACCACTAGGGAGTTGCTGATGTTCTAAATGAA GTGTATTCTTTGCTTAAGAGTCAGTTTTGTACCTACTAAGAAAACCCCATCTACCAGTCCTAAAGAGATAAGGCATTTGATTTGGAGAGAGAGGAAGCAGTAGAAATGAAATAAACTAAA ATGCAAACTGCATCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
Protein Sequence | >1134 : length: 482 MEPWPLLLLFSLCSAGLVLGSEHETRLVAKLFKDYSSVVRPVEDHRQVVEVTVGLQLIQLINVDEVNQIVTTNVRLKQGDMVDLPRPSCVTLGVPLFSHLQNEQWVDYNLKWNPDDYGGV KKIHIPSEKIWRPDLVLYNNADGDFAIVKFTKVLLQYTGHITWTPPAIFKSYCEIIVTHFPFDEQNCSMKLGTWTYDGSVVAINPESDQPDLSNFMESGEWVIKESRGWKHSVTYSCCPD TPYLDITYHFVMQRLPLYFIVNVIIPCLLFSFLTGLVFYLPTDSGEKMTLSISVLLSLTVFLLVIVELIPSTSSAVPLIGKYMLFTMVFVIASIIITVIVINTHHRSPSTHVMPNWVRKV FIDTIPNIMFFSTMKRPSREKQDKKIFTEDIDISDISGKPGPPPMGFHSPLIKHPEVKSAIEGIKYIAETMKSDQESNNAAAEWKYVAMVMDHILLGVFMLVCIIGTLAVFAGRLIELNQ QG |