Details for: CHRNA1
Associated with
Other Information
Genular Protein ID: 3939718576
Symbol: ACHA_HUMAN
Name: Acetylcholine receptor subunit alpha
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 6688857
Title: Cloning and sequence analysis of calf cDNA and human genomic DNA encoding alpha-subunit precursor of muscle acetylcholine receptor.
PubMed ID: 6688857
DOI: 10.1038/305818a0
PubMed ID: 3338555
Title: The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA.
PubMed ID: 3338555
PubMed ID: 1694127
Title: The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon.
PubMed ID: 1694127
PubMed ID: 7725386
Title: Cloning of a cDNA coding for the acetylcholine receptor alpha-subunit from a thymoma associated with myasthenia gravis.
PubMed ID: 7725386
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 2449458
Title: Amphipathic segment of the nicotinic receptor alpha subunit contains epitopes recognized by T lymphocytes in myasthenia gravis.
PubMed ID: 2449458
DOI: 10.1172/jci113369
PubMed ID: 8441631
Title: Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissues.
PubMed ID: 8441631
DOI: 10.1093/nar/21.2.233
PubMed ID: 8788941
Title: Functional and non-functional isoforms of the human muscle acetylcholine receptor.
PubMed ID: 8788941
PubMed ID: 15609996
Title: Alpha-conotoxins ImI and ImII target distinct regions of the human alpha7 nicotinic acetylcholine receptor and distinguish human nicotinic receptor subtypes.
PubMed ID: 15609996
DOI: 10.1021/bi048918g
PubMed ID: 19690332
Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
PubMed ID: 19690332
PubMed ID: 27375219
Title: Mutations causing slow-channel myasthenia reveal that a valine ring in the channel pore of muscle AChR is optimized for stabilizing channel gating.
PubMed ID: 27375219
DOI: 10.1002/humu.23043
PubMed ID: 7619526
Title: Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.
PubMed ID: 7619526
PubMed ID: 8872460
Title: New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
PubMed ID: 8872460
DOI: 10.1093/hmg/5.9.1217
PubMed ID: 9158151
Title: Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.
PubMed ID: 9158151
DOI: 10.1093/hmg/6.5.767
PubMed ID: 9221765
Title: Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.
PubMed ID: 9221765
PubMed ID: 10195214
Title: Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating.
PubMed ID: 10195214
DOI: 10.1038/6326
PubMed ID: 12588888
Title: Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.
PubMed ID: 12588888
DOI: 10.1172/jci16997
PubMed ID: 15079006
Title: Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
PubMed ID: 15079006
PubMed ID: 16685696
Title: Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown.
PubMed ID: 16685696
DOI: 10.1002/ana.20861
PubMed ID: 18252226
Title: Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
PubMed ID: 18252226
Sequence Information:
- Length: 457
- Mass: 51839
- Checksum: 89480567D85C15B8
- Sequence:
MEPWPLLLLF SLCSAGLVLG SEHETRLVAK LFKDYSSVVR PVEDHRQVVE VTVGLQLIQL INVDEVNQIV TTNVRLKQQW VDYNLKWNPD DYGGVKKIHI PSEKIWRPDL VLYNNADGDF AIVKFTKVLL QYTGHITWTP PAIFKSYCEI IVTHFPFDEQ NCSMKLGTWT YDGSVVAINP ESDQPDLSNF MESGEWVIKE SRGWKHSVTY SCCPDTPYLD ITYHFVMQRL PLYFIVNVII PCLLFSFLTG LVFYLPTDSG EKMTLSISVL LSLTVFLLVI VELIPSTSSA VPLIGKYMLF TMVFVIASII ITVIVINTHH RSPSTHVMPN WVRKVFIDTI PNIMFFSTMK RPSREKQDKK IFTEDIDISD ISGKPGPPPM GFHSPLIKHP EVKSAIEGIK YIAETMKSDQ ESNNAAAEWK YVAMVMDHIL LGVFMLVCII GTLAVFAGRL IELNQQG
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.