CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit)

2013-09-01  

Identity

HGNC
LOCATION
2q31.1
LOCUSID
ALIAS
ACHRA,ACHRD,CHRNA,CMS1A,CMS1B,CMS2A,FCCMS,SCCMS

Other Information

Locus ID:

NCBI: 1134
MIM: 100690
HGNC: 1955
Ensembl: ENSG00000138435

Variants:

dbSNP: 1134
ClinVar: 1134
TCGA: ENSG00000138435
COSMIC: CHRNA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138435ENST00000261007P02708
ENSG00000138435ENST00000348749P02708
ENSG00000138435ENST00000348749Q53SH4
ENSG00000138435ENST00000409219E7ENE5
ENSG00000138435ENST00000409323G5E9G9
ENSG00000138435ENST00000409542B8ZZD3
ENSG00000138435ENST00000435083F8WDS3
ENSG00000138435ENST00000636168A0A1B0GV17

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Acetylcholine Binding And Downstream EventsREACTOMER-HSA-181431
Activation of Nicotinic Acetylcholine ReceptorsREACTOMER-HSA-629602
Presynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-622323
Highly calcium permeable nicotinic acetylcholine receptorsREACTOMER-HSA-629597
Postsynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-622327
Highly calcium permeable postsynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-629594

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA133950441hmg coa reductase inhibitorsChemicalVariantAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
192599742009Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.121
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
190108842008Smokers with the CHRNA lung cancer-associated variants are exposed to higher levels of nicotine equivalents and a carcinogenic tobacco-specific nitrosamine.83
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
176873312007An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus.51
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
190860532009Identification 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.34
182522262008Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.29
197606732010Association of CHRN genes with "dizziness" to tobacco.27

Citation

Dessen P

CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit)

Atlas Genet Cytogenet Oncol Haematol. 2013-09-01

Online version: http://atlasgeneticsoncology.org/gene/53528/chrna1