CHRNB3:Neuronal acetylcholine receptor subunit beta-3

Gene Name
Neuronal acetylcholine receptor subunit beta-3
Protein ID
Q05901
Chromosome ID
8
HPP Status
2
Protein Name
Neuronal acetylcholine receptor subunit beta-3
Synonyms

nicotinic

cholinergic receptor, nicotinic, beta polypeptide 3

beta 3 (neuronal)"

acetylcholine receptor, neuronal nicotinic, beta-3 subunit

"acetylcholine receptor

cholinergic receptor, nicotinic, beta 3 (neuronal)

acetylcholine receptor, nicotinic, beta 3 (neuronal)

neuronal acetylcholine receptor subunit beta-3


[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNB3 ]
Chromosomal Position
8p11.21 | Start:42697376 End:42697376
Sequence
Q05901.fasta
Description

Entrez Gene Summary for CHRNB3
The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding site. Subunits lacking these cysteine residues are classified as beta-subunits (Groot Kormelink and Luyten, 1997 (PubMed 9009220)). Elliott et al. (1996) (PubMed 8906617) stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region.(supplied by OMIM, Apr 2010)

UniProtKB Summary for CHRNB3
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=CHRNB3 ]
External IDs
Hgnc ID: 1963 EntrezGene ID: 1142 Ensembl ID: ENSG00000147432
[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNB3 ]
Reference Source
http://www.nextprot.org

Gene Reference Into Function (GeneRIF)


PubMed IDGeneRIF TextLast Update
12912995absence of differences in the pharmacological profile of nicotinic receptor alpha3beta4 argues against role for incorporated beta3 subunit in formation of agonist binding sites while changes in channel kinetics suggest important effect on receptor gating2010-01-21
16314871Observational study of gene-disease association. (HuGE Navigator)2008-03-13
17135278Observational study of gene-disease association. (HuGE Navigator)2008-03-13
17158188Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)2008-03-13
17373692Observational study of gene-disease association. (HuGE Navigator)2008-03-13
17559419Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)2008-03-13
18055561CHRNB3 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
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
19482438Observational study of gene-disease association. (HuGE Navigator)2009-06-24
19482438There was no evidence of association of any of the SNPs in CHRNAB2 (rs2072661, rs4845378) or CHRNAB3 (rs4953, rs6474413) with smoking status (p=0.30) or, among daily smokers, of association with cotinine levels (p=0.08).2010-05-31
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
19760673Observational study of gene-disease association. (HuGE Navigator)2009-12-02
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
20840187Observational study of gene-disease association and gene-environment interaction. (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
21191315Variants in CHRNB3/CHRNA6 are independently associated with bipolar disorder.2012-01-21
21606657The GG genotype of SNP rs13261190 in the CHRNB3 was associated with increased novelty seeking in alcohol-dependent individuals.2011-11-05
21831805CHRNB3 and CHRNA6 polymorphisms are associated with smoking behavior and lung cancer susceptibility in Chinese Han population.2011-10-01
22315221beta3 subunit coexpression promotes function of alpha6*-nAChR2012-07-21
22524403The results indicate the genetic locus for the CHRNB3 gene is strongly associated with nicotine dependence.2013-03-16
23319001this study provides convincing evidence for a role of CHRNB3 in Nicotine Dependence.2014-11-08
23899432Results demonstrate the association between SNPs in CHRNB3 nicotinic acetylcholine receptor genes and the risk of smoking in ADHD2014-03-22
23943838Level of cigarettes per day during adolescence and young adulthood is associated with CHRNB3A6, CHRNA5A3B4, and CHRNA22014-12-06
24001015This patient's chromosomal abnormality affected only one gene that is highly expressed in the brainstem and brain, involved in neurotransmission, and could be related to her Duane retraction syndrome.2016-02-27
24057674Rare missense variants in CHRNB3 and CHRNA3 are associated with risk of alcohol and cocaine dependence.2014-11-08
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
24731518CHRNB3 c.-57A>G alteration affects the promoter activity and is associated with Parkinson's disease (PD), and smoking in PD patients.2015-02-14
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
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 CHRNB3 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 evidenceACHB3_HUMANACHA4_RAT45832861.8971.62121326350363622E-108389
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
ACHB3_HUMANIPR002394GO:0004889FamilyNicotinic acetylcholine receptorMolecular Functionacetylcholine-activated cation-selective channel activity
ACHB3_HUMANIPR002394GO:0005216FamilyNicotinic acetylcholine receptorMolecular Functionion channel activity
ACHB3_HUMANIPR002394GO:0006811FamilyNicotinic acetylcholine receptorBiological Procession transport
ACHB3_HUMANIPR002394GO:0016021FamilyNicotinic acetylcholine receptorCellular Componentintegral to membrane
ACHB3_HUMANIPR002394GO:0045211FamilyNicotinic acetylcholine receptorCellular Componentpostsynaptic membrane
ACHB3_HUMANIPR006029GO:0006811DomainNeurotransmitter-gated ion-channel transmembrane domainBiological Procession transport
ACHB3_HUMANIPR006029GO:0016020DomainNeurotransmitter-gated ion-channel transmembrane domainCellular Componentmembrane
ACHB3_HUMANIPR006201GO:0006811FamilyNeurotransmitter-gated ion-channelBiological Procession transport
ACHB3_HUMANIPR006201GO:0016021FamilyNeurotransmitter-gated ion-channelCellular Componentintegral to membrane
ACHB3_HUMANIPR006202GO:0005230DomainNeurotransmitter-gated ion-channel ligand-bindingMolecular Functionextracellular ligand-gated ion channel activity
ACHB3_HUMANIPR006202GO:0006810DomainNeurotransmitter-gated ion-channel ligand-bindingBiological Processtransport
ACHB3_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
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




gpmDB

Evidence File
/mnt/mpp/ms_data/Q05901_gpmdb.txt
Reference
Fenyö, David; Beavis, Ronald C. (2015). "The GPMDB REST interface". Bioinformatics 31 (12): 2056–2058. doi:10.1093/bioinformatics/btv107. ISSN 1367-4803.
http://gpmdb.thegpm.org/ ">Global Proteome Machine Database - THE GPM


Showing 1-1 of 1 item.

MaxQB

Peptide SequenceSearch EngineBest ScoreBest Evidence IDBest Raw File IDBest Msms ScanAnnotation
LILINENVDRMaxQuant139.6411601620110301_Velos3_GaSt_SA_ApProt_Triple_Inhibitor_M3_Slice_1235574
Evidence File
/mnt/mpp/ms_data/Q05901_maxqb.txt
Reference
Christoph Schaab, Tamar Geiger, Gabriele Stoehr, Juergen Cox and Matthias Mann: "Analysis of high-accuracy, quantitative proteomics data in the MaxQB database", Mol Cell Proteomics 11 (2012) M111.014068.
http://maxqb.biochem.mpg.de/mxdb/ ">MaxQB


PRIDE

Peptide SequenceScoresPride IDSpectrum IDAnnotation
No results found.
Evidence File
/mnt/mpp/ms_data/Q05901_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


Showing 1-7 of 7 items.

Proteomics DB

Peptide SequenceSearch EngineScoreThreshold ScoreIdentification IDExperiment IDAnnotation
HLFQGYQKMaxquant202.201338778693-1
EHFISQVVQDWKMaxquant191.4801337768470-1
SSSTYHPMAPWVKMaxquant162.3101341549696-1
EHFISQVVQDWKMaxquant143.9701337768468-1
FVAQVLDRMaxquant127.4601315239086-1
VPSESLWLPDIVLFENADGRMascot133.79311421968362-1
KDFFDNGEWEILNAKMaxquant115.6801339269700-1
Evidence File
/mnt/mpp/ms_data/Q05901_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