Property Summary

NCBI Gene PubMed Count 25
PubMed Score 17.45
PubTator Score 24.85

Knowledge Summary

Patent (1,362)

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma 1.500 1.4e-06
cystic fibrosis -1.068 3.7e-04

 MGI Phenotype (1)

Gene RIF (15)

PMID Text
24240098 These findings identify novel Golgi retention signals in the beta and delta subunit loops that regulate surface trafficking of assembled AChR and may help prevent surface expression of unassembled subunits.
22406075 Single nucleotide polymorphisms , rs55633891 (alpha9, C>T) and rs17856697 (beta1, A>G), did not exhibit a significant trend to be associated with cervical lesions.
20736995 Observational study of gene-disease association. (HuGE Navigator)
20734064 Observational study of gene-disease association. (HuGE Navigator)
20584212 Observational study of gene-disease association. (HuGE Navigator)
19307444 Observational study of gene-disease association. (HuGE Navigator)
19279256 Extracellular beta1-beta2 and cysteine-loops bridge the pre-M1 transmembrane domain and M2-M3 linker to transduce agonist binding into channel gating.
19259974 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
18179903 No CHRNA1, CHRNB1, or CHRND mutations were detected, but a homozygous RAPSN frameshift mutation, c.1177-1178delAA, was identified in a family with three children affected with lethal fetal akinesia sequence.
17373692 Observational study of gene-disease association. (HuGE Navigator)
17015027 the beta1 subunit showed significantly increased expression in lung tumors as compared to non-tumor bronchial tissue
16874522 Observational study of gene-disease association. (HuGE Navigator)
16874522 Association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence.
1397297 HIV-1 gp120 binds to nicotinic acetylcholine receptors in muscle cells and neurons

AA Sequence

MTPGALLMLLGALGAPLAPGVRGSEAEGRLREKLFSGYDSSVRPAREVGDRVRVSVGLILAQLISLNEKD      1 - 70
EEMSTKVYLDLEWTDYRLSWDPAEHDGIDSLRITAESVWLPDVVLLNNNDGNFDVALDISVVVSSDGSVR     71 - 140
WQPPGIYRSSCSIQVTYFPFDWQNCTMVFSSYSYDSSEVSLQTGLGPDGQGHQEIHIHEGTFIENGQWEI    141 - 210
IHKPSRLIQPPGDPRGGREGQRQEVIFYLIIRRKPLFYLVNVIAPCILITLLAIFVFYLPPDAGEKMGLS    211 - 280
IFALLTLTVFLLLLADKVPETSLSVPIIIKYLMFTMVLVTFSVILSVVVLNLHHRSPHTHQMPLWVRQIF    281 - 350
IHKLPLYLRLKRPKPERDLMPEPPHCSSPGSGWGRGTDEYFIRKPPSDFLFPKPNRFQPELSAPDLRRFI    351 - 420
DGPNRAVALLPELREVVSSISYIARQLQEQEDHDALKEDWQFVAMVVDRLFLWTFIIFTSVGTLVIFLDA    421 - 490
TYHLPPPDPFP                                                               491 - 501
//

Text Mined References (26)

PMID Year Title
24240098 2014 Determinants in the ? and ? subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor.
22406075 2012 Association of single nucleotide polymorphisms of nicotinic acetylcholine receptor subunits with cervical neoplasia.
20736995 2010 Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20584212 2010 Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans.
19307444 2009 Examination of the nicotine dependence (NICSNP) consortium findings in the Iowa adoption studies population.
19279256 2009 Binding to gating transduction in nicotinic receptors: Cys-loop energetically couples to pre-M1 and M2-M3 regions.
19259974 2009 Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
18179903 2008 Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
17373692 2007 No evidence for association between 19 cholinergic genes and bipolar disorder.
17015027 2007 Nicotine activates cell-signaling pathways through muscle-type and neuronal nicotinic acetylcholine receptors in non-small cell lung cancer cells.
16874522 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.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16280586 2005 Src-family kinases stabilize the neuromuscular synapse in vivo via protein interactions, phosphorylation, and cytoskeletal linkage of acetylcholine receptors.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11104662 2001 CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.
10662545 2000 Physical map of 17p13 and the genes adjacent to p53.
10562302 1999 Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly.
8872460 1996 New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
8651643 1996 A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome.
2740233 1989 Nucleotide sequence of human muscle acetylcholine receptor beta-subunit.
2221824 1990 Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17.
887246 1977 Research methods in the biomechanics of sports.