Human Gene CHRNA1 (uc002uje.2) Description and Page Index
Description: Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 2, mRNA. RefSeq Summary (NM_000079): 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]. Transcript (Including UTRs) Position: hg19 chr2:175,612,323-175,629,200 Size: 16,878 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr2:175,612,852-175,629,122 Size: 16,271 Coding Exon Count: 9
autoimmune myasthenia gravis Heckmann JM et al. 1996, Human muscle acetylcholine receptor alpha-subunit gene (CHRNA1) association with autoimmune myasthenia gravis in black mixed-ancestry and Caucasian subjects., Journal of autoimmunity. 1996 Apr;9(2):175-80.
Our results suggest that the CHRNA1 locus harbours a minor susceptibility gene for developing MG, though we cannot rule out linkage disequilibrium with another major gene locus on chromosome 2.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q53SH4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC043196 - Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle), mRNA (cDNA clone IMAGE:5288924), with apparent retained intron. AK299445 - Homo sapiens cDNA FLJ58615 complete cds, highly similar to Acetylcholine receptor protein subunit alpha precursor. S77094 - nicotinic acetylcholine receptor alpha subunit|AChR alpha subunit [human, thymic carcinoma, myasthenia gravis-associated thymoma patient 1494/88, mRNA Partial, 1676 nt]. Y00762 - Human mRNA for muscle acetylcholine receptor alpha-subunit. JD500866 - Sequence 481890 from Patent EP1572962. JD244924 - Sequence 225948 from Patent EP1572962. AK291338 - Homo sapiens cDNA FLJ77888 complete cds, highly similar to Human mRNA for muscle acetylcholine receptor alpha-subunit. JD411470 - Sequence 392494 from Patent EP1572962. JD419373 - Sequence 400397 from Patent EP1572962. JD503043 - Sequence 484067 from Patent EP1572962. AK315312 - Homo sapiens cDNA, FLJ96344, Homo sapiens cholinergic receptor, nicotinic, alpha polypeptide 1(muscle) (CHRNA1), mRNA. BC006314 - Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle), mRNA (cDNA clone IMAGE:4124038), with apparent retained intron. KJ901339 - Synthetic construct Homo sapiens clone ccsbBroadEn_10733 CHRNA1 gene, encodes complete protein. KR710048 - Synthetic construct Homo sapiens clone CCSBHm_00009235 CHRNA1 (CHRNA1) mRNA, encodes complete protein. KR710049 - Synthetic construct Homo sapiens clone CCSBHm_00009237 CHRNA1 (CHRNA1) mRNA, encodes complete protein. KR710050 - Synthetic construct Homo sapiens clone CCSBHm_00009238 CHRNA1 (CHRNA1) mRNA, encodes complete protein. KR710051 - Synthetic construct Homo sapiens clone CCSBHm_00009239 CHRNA1 (CHRNA1) mRNA, encodes complete protein. DQ323657 - Homo sapiens clone 66 muscle nicotinic acetylcholine receptor mRNA, partial cds. DQ323658 - Homo sapiens clone 67 muscle nicotinic acetylcholine receptor mRNA, partial cds. JD050179 - Sequence 31203 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04080 - Neuroactive ligand-receptor interaction
BioCarta from NCI Cancer Genome Anatomy Project h_botulinPathway - Blockade of Neurotransmitter Relase by Botulinum Toxin h_agrPathway - Agrin in Postsynaptic Differentiation h_no1Pathway - Actions of Nitric Oxide in the Heart