Description: Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA. RefSeq Summary (NM_000747): The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr17:7,349,648-7,359,008 Size: 9,361 Total Exon Count: 5 Strand: + Coding Region Position: hg19 chr17:7,350,858-7,358,779 Size: 7,922 Coding Exon Count: 4
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): CHRNB1 CDC HuGE Published Literature: CHRNB1 Positive Disease Associations: nicotine Related Studies:
nicotine Lou, X. Y. et al. 2006, Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence, Hum Genet 2006 120(3) 381-9.
[PubMed 16874522]
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 B7Z2M6
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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.