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CHRNA5 cholinergic receptor nicotinic alpha 5 subunit [ Homo sapiens (human) ]

Gene ID: 1138, updated on 12-May-2016
Official Symbol
CHRNA5provided by HGNC
Official Full Name
cholinergic receptor nicotinic alpha 5 subunitprovided by HGNC
Primary source
HGNC:HGNC:1959
See related
Ensembl:ENSG00000169684 HPRD:00334; MIM:118505; Vega:OTTHUMG00000143858
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LNCR2
Summary
The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]
Orthologs
Location:
15q24
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (78565520..78595269)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (78857862..78887611)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene hydroxylysine kinase Neighboring gene proteasome subunit alpha 4 Neighboring gene cholinergic receptor nicotinic alpha 3 subunit Neighboring gene cholinergic receptor nicotinic beta 4 subunit Neighboring gene ribosomal protein L18 pseudogene 11

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Smoking as a quantitative trait locus 3
MedGen: C3150168 OMIM: 612052 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.
NHGRI GWA Catalog
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
NHGRI GWA Catalog
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.
NHGRI GWA Catalog
A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.
NHGRI GWA Catalog
A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.
NHGRI GWA Catalog
Beyond cigarettes-per-day: A genome-wide association study of the biomarker carbon monoxide.
NHGRI GWA Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
NHGRI GWA Catalog
Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer.
NHGRI GWA Catalog
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
NHGRI GWA Catalog
Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
NHGRI GWA Catalog
Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.
NHGRI GWA Catalog
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
NHGRI GWA Catalog
Genome-wide meta-analyses of smoking behaviors in African Americans.
NHGRI GWA Catalog
IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease.
NHGRI GWA Catalog
Meta-analysis and imputation refines the association of 15q25 with smoking quantity.
NHGRI GWA Catalog
Variants in FAM13A are associated with chronic obstructive pulmonary disease.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to acetylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
 
acetylcholine receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
acetylcholine-activated cation-selective channel activity NAS
Non-traceable Author Statement
more info
PubMed 
acetylcholine-activated cation-selective channel activity TAS
Traceable Author Statement
more info
PubMed 
ligand-gated ion channel activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
behavioral response to nicotine IMP
Inferred from Mutant Phenotype
more info
PubMed 
cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
chemical synaptic transmission, postsynaptic IEA
Inferred from Electronic Annotation
more info
 
neuromuscular synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
synaptic transmission, cholinergic IBA
Inferred from Biological aspect of Ancestor
more info
 
transport NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
acetylcholine-gated channel complex IBA
Inferred from Biological aspect of Ancestor
more info
 
acetylcholine-gated channel complex IC
Inferred by Curator
more info
PubMed 
cell junction IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
neuronal acetylcholine receptor subunit alpha-5
Names
Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5
acetylcholine receptor, nicotinic, alpha 5 (neuronal)
cholinergic receptor, nicotinic alpha 5
cholinergic receptor, nicotinic, alpha 5 (neuronal)
neuronal nicotinic acetylcholine receptor, alpha5 subunit

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023328.1 RefSeqGene

    Range
    5001..34750
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000745.3NP_000736.2  neuronal acetylcholine receptor subunit alpha-5 isoform 1 precursor

    See identical proteins and their annotated locations for NP_000736.2

    Status: REVIEWED

    Description
    Transcript Variant: his variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AJ584706, BC033639, BM839817
    Consensus CDS
    CCDS10304.1
    UniProtKB/Swiss-Prot
    P30532
    UniProtKB/TrEMBL
    Q6EWN4
    Related
    ENSP00000299565, OTTHUMP00000185019, ENST00000299565, OTTHUMT00000290106
    Conserved Domains (3) summary
    pfam02931
    Location:47250
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:257447
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    TIGR00860
    Location:39449
    LIC; Cation transporter family protein
  2. NM_001307945.1NP_001294874.1  neuronal acetylcholine receptor subunit alpha-5 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001294874.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC027228, AJ584706, BM839817, BX332469
    Consensus CDS
    CCDS76786.1
    UniProtKB/TrEMBL
    H0YM98, Q6EWN4
    Conserved Domains (1) summary
    pfam02931
    Location:47154
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

    Range
    78565520..78595269
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254142.2XP_005254199.1  

    See identical proteins and their annotated locations for XP_005254199.1

    Conserved Domains (1) summary
    pfam02931
    Location:47235
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  2. XM_011521174.1XP_011519476.1  

    Related
    ENSP00000453519, OTTHUMP00000248605, ENST00000559554, OTTHUMT00000418913
    Conserved Domains (1) summary
    pfam02931
    Location:47154
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    78976380..79006179
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)