CHRNA6:Neuronal acetylcholine receptor subunit alpha-6

Gene Name
Neuronal acetylcholine receptor subunit alpha-6
Protein ID
Q15825
Chromosome ID
8
HPP Status
2
Protein Name
Neuronal acetylcholine receptor subunit alpha-6
Synonyms

nicotinic

neuronal acetylcholine receptor subunit alpha-6

CHNRA6

acetylcholine receptor, nicotinic, alpha 6 (neuronal)

alpha 6 (neuronal)"

"acetylcholine receptor

cholinergic receptor, nicotinic, alpha polypeptide 6

cholinergic receptor, nicotinic, alpha 6 (neuronal)


[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNA6 ]
Chromosomal Position
8p11.21 | Start:42752620 End:42752620
Sequence
Q15825.fasta
Description

Entrez Gene Summary for CHRNA6
This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine receptors that mediate dopaminergic neurotransmission and are activated by acetylcholine and exogenous nicotine. Alternatively spliced transcript variants have been observed for this gene. Single nucleotide polymorphisms in this gene have been associated with both nicotine and alcohol dependence. (provided by RefSeq, Dec 2010)

UniProtKB Summary for CHRNA6
Function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane

[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNA6 ]
External IDs
Hgnc ID: 15963 EntrezGene ID: 8973 Ensembl ID: ENSG00000147434
[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNA6 ]
Reference Source
http://www.nextprot.org

Gene Reference Into Function (GeneRIF)


PubMed IDGeneRIF TextLast Update
17373692Observational study of gene-disease association. (HuGE Navigator)2008-03-13
18055561CHRNA6 is associated with subjective responses to tobacco.2010-01-21
18055561Observational study of gene-disease association. (HuGE Navigator)2008-03-13
18704094Observational study of gene-disease association. (HuGE Navigator)2008-09-10
18704094Together these results further implicate the region downstream of CHRNA6 and the region upstream of CHRNB3 in risk of nicotine dependence.2010-01-21
18940582Alpha6 subunit-containing nicotinic receptors play a selective role in the modulation of dopamine release in both the nucleus accumbens and in the dorsal striatum.2010-01-21
18940593Activating transgenic gain-of-function alpha 6 nicotinic receptors in dopamine neurons is sufficient to cause locomotor hyperactivity.2010-01-21
19086053Observational study of gene-disease association. (HuGE Navigator)2009-01-11
19156168Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)2009-02-11
19259974Observational study of gene-disease association. (HuGE Navigator)2009-03-25
19500157Observational study of gene-disease association. (HuGE Navigator)2009-06-24
19500157Three single nucleotide polymorphisms (SNPs) in CHRNA6 and one SNP in CHRNB3 are associated with a composite of alcohol phenotypes.2011-01-15
19698703present findings disclose a haplotype association between the CHRNA6 gene and heavy alcohol use as well as an association of the CHRNA4 gene with increased body mass in heavy consumers of alcohol2010-05-03
20029407Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)2010-04-07
20029407The negative consequences of Prenatal exposure to maternal cigarette smoking on the brain and behavior of adolescence and suggestion that the alpha6 nAChR subunit may modify, at least in part, these effects.2010-12-01
20231857Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)2010-04-07
20418888CHRNB3-CHRNA6 and CYP2A6 sequence variants affect smoking behavior2010-05-31
20418888Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)2010-06-30
20584212Observational study of gene-disease association. (HuGE Navigator)2010-09-15
20734064Observational study of gene-disease association. (HuGE Navigator)2010-12-05
20736995Observational study of gene-disease association. (HuGE Navigator)2010-12-05
20854418Observational study of gene-disease association. (HuGE Navigator)2010-12-05
20923852Concatameric pentamers and pentamers formed from combinations of trimers, dimers, and monomers of alpha6beta2beta3* acetylcholine receptors exhibit similar properties, indicating that the linkers between subunits do not alter their functional properties.2011-01-15
21831805CHRNB3 and CHRNA6 polymorphisms are associated with smoking behavior and lung cancer susceptibility in Chinese Han population.2011-10-01
21832048analysis of N-terminal extracellular domain determinants in nicotinic acetylcholine receptor (nAChR) alpha6 subunits that influence effects of wild-type or mutant beta3 subunits on function of alpha6beta2*- or alpha6beta4*-nAChR2012-01-14
21873428analysis of how nicotinic acetylcholine receptor (nAChR) alpha5 subunits and/or variants modulate function of alpha6*-nAChR2012-01-14
21917987alpha6beta4* nAChRs are expressed and contribute to exocytosis in human chromaffin cells of the adrenal gland, the main source of adrenaline under stressful situations.2012-03-03
22315221beta3 subunit coexpression promotes function of alpha6*-nAChR2012-07-21
23002780Chrna6 has a cellular expression signature for retinal ganglion cells with high correlation to Thy1, a known marker. Immunofluorescence confirms this gene is preferentially expressed by RGCs in the young and adult mouse retina and expression is reduced in glaucoma.2016-03-28
23227187Cross sectional data of US adults from the NHANES linked with genotype and geocodes were used to identify tobacco use phenotypes, state-level taxation rates, and variation in the nicotinic acetylcholine receptor (CHRNA6) genotype2013-06-15
23899432Results demonstrate the association between SNPs in CHRNA6 nicotinic acetylcholine receptor genes and the risk of smoking in ADHD2014-03-22
24085295Elucidation of molecular impediments in the alpha6 subunit for in vitro expression of functional alpha6beta4* nicotinic acetylcholine receptors.2014-02-08
24253422findings indicate that both CHRNA2 and CHRNA6 play a significant role in the etiology of ND in AA and EA smokers2014-05-31
24401102The common variant rs13273442 in the CHRNB3-CHNRA6 region is associated significantly with nicotine dependence in European Americans and African Americans.2015-06-20
24675634the CHRNB3-A6 locus contains multiple variants affecting risk for vulnerability to cocaine and nicotine dependence as well as bipolar disorder, suggesting that they have pleiotropic effects.2015-10-24
24792900these results demonstrate that the combined effect of rs6474412-C/T polymorphism in smoking-related CHRNB3-CHRNA6 region gene and smoking behavior may not confer risk to psoriasis vulgaris (PV), but may have impact on PV severity in Chinese Han population.2014-07-12
24886653N-terminal alpha-helix (Asp57); complementary face/inner beta-fold (Arg87 or Asp92) and principal face/outer beta-fold (Ser156 or Asn171) residues in the halpha6 subunit are crucial for functional expression.2014-10-04
25068303Data show efficient expression of (alpha6beta2)2beta3 nicotinic acetylcholine receptors (AChRs) in Xenopus oocytes using free subunits with only small changes in alpha6 subunits, while not altering AChR pharmacology or channel structure.2015-12-05
25823894Polymorphism in CHRNA6 gene is associated with esophageal adenocarcinoma.2015-07-25
Reference
http://www.ncbi.nlm.nih.gov/gene/about-generif
ftp://ftp.ncbi.nih.gov/gene/GeneRIF/

OMICSDI Browser



Relevant citations within the PubMed literature

         

Putative/known Functions



Localisation



Homologues, Orthologues, Paralogues and Family



Sequence Similarity and Functional Annotation


Sequence Similarity

Db NameQuery UniSubject UniSequence LengthAlignment LengthIdentityCoverageMismatchesGap OpeningsQuery StartQuery EndSubject StartSubject EndEvalueBit Score
Reviewed non-human mammalian with experimental evidenceACHA6_HUMANACHA3_RAT49446866.6794.74145233489284955E-178620
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

InterProScan Annotation

Uniprot IDInterpro IDGo IDTypeNameCategoryDescription
ACHA6_HUMANIPR002394GO:0004889FamilyNicotinic acetylcholine receptorMolecular Functionacetylcholine-activated cation-selective channel activity
ACHA6_HUMANIPR002394GO:0005216FamilyNicotinic acetylcholine receptorMolecular Functionion channel activity
ACHA6_HUMANIPR002394GO:0006811FamilyNicotinic acetylcholine receptorBiological Procession transport
ACHA6_HUMANIPR002394GO:0016021FamilyNicotinic acetylcholine receptorCellular Componentintegral to membrane
ACHA6_HUMANIPR002394GO:0045211FamilyNicotinic acetylcholine receptorCellular Componentpostsynaptic membrane
ACHA6_HUMANIPR006029GO:0006811DomainNeurotransmitter-gated ion-channel transmembrane domainBiological Procession transport
ACHA6_HUMANIPR006029GO:0016020DomainNeurotransmitter-gated ion-channel transmembrane domainCellular Componentmembrane
ACHA6_HUMANIPR006201GO:0006811FamilyNeurotransmitter-gated ion-channelBiological Procession transport
ACHA6_HUMANIPR006201GO:0016021FamilyNeurotransmitter-gated ion-channelCellular Componentintegral to membrane
ACHA6_HUMANIPR006202GO:0005230DomainNeurotransmitter-gated ion-channel ligand-bindingMolecular Functionextracellular ligand-gated ion channel activity
ACHA6_HUMANIPR006202GO:0006810DomainNeurotransmitter-gated ion-channel ligand-bindingBiological Processtransport
ACHA6_HUMANIPR006202GO:0016020DomainNeurotransmitter-gated ion-channel ligand-bindingCellular Componentmembrane
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

KEGG Pathways

Pathway IDDatabase NamePathway Name
hsa04080KEGG PATHWAYNeuroactive ligand-receptor interaction
hsa04725KEGG PATHWAYCholinergic synapse
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

Post Translational Modifications



Protein Protein Interactions



Best Available Mass Spectra without FDR




PRIDE

Peptide SequenceScoresPride IDSpectrum IDAnnotation
No results found.
Evidence File
/mnt/mpp/ms_data/Q15825_pridedb.txt
Reference
Vizcaino JA, et al. 2016 update of the PRIDE database and related tools. Nucleic Acids Res. 2016 Jan 1;44(D1):D447-D456.
https://www.ebi.ac.uk/pride/archive/ ">PRIDE Archive


Proteomics DB

Evidence File
/mnt/mpp/ms_data/Q15825_protdb.txt
Reference
Wilhelm, M et al. (2014) Mass-spectrometry-based draft of the human proteome. Nature. 509:582-7.
https://www.proteomicsdb.org/ ">Proteomics DB