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

Gene ID: 1138, updated on 19-Sep-2021

Summary

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 MIM:118505
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]
Expression
Broad expression in gall bladder (RPKM 1.4), colon (RPKM 1.2) and 19 other tissues See more
Orthologs
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Genomic context

See CHRNA5 in Genome Data Viewer
Location:
15q25.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (78565520..78595269)
105.20201022 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 20S subunit alpha 4 Neighboring gene cholinergic receptor nicotinic alpha 3 subunit Neighboring gene cholinergic receptor nicotinic beta 4 subunit Neighboring gene uncharacterized LOC112268142 Neighboring gene ribosomal protein L18 pseudogene 11

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.
GeneReviews: Not available
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
GeneReviews: Not available
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.
GeneReviews: Not available
A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.
GeneReviews: Not available
A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.
GeneReviews: Not available
Beyond cigarettes-per-day: A genome-wide association study of the biomarker carbon monoxide.
GeneReviews: Not available
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
GeneReviews: Not available
Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer.
GeneReviews: Not available
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
GeneReviews: Not available
Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
GeneReviews: Not available
Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.
GeneReviews: Not available
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
GeneReviews: Not available
Genome-wide meta-analyses of smoking behaviors in African Americans.
GeneReviews: Not available
IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease.
GeneReviews: Not available
Meta-analysis and imputation refines the association of 15q25 with smoking quantity.
GeneReviews: Not available
Smoking as a quantitative trait locus 3
MedGen: C3150168 OMIM: 612052 GeneReviews: Not available
not available
Variants in FAM13A are associated with chronic obstructive pulmonary disease.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: PSMA4

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in behavioral response to nicotine IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
involved_in excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
involved_in ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of synaptic vesicle exocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in response to nicotine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
involved_in synaptic transmission, cholinergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of acetylcholine-gated channel complex IC
Inferred by Curator
more info
PubMed 
located_in dopaminergic synapse IEA
Inferred from Electronic Annotation
more info
 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_000745.4NP_000736.2  neuronal acetylcholine receptor subunit alpha-5 isoform 1 precursor

    See identical proteins and their annotated locations for NP_000736.2

    Status: REVIEWED

    Source sequence(s)
    AC027228
    Consensus CDS
    CCDS10304.1
    UniProtKB/Swiss-Prot
    P30532
    UniProtKB/TrEMBL
    Q6EWN4
    Related
    ENSP00000299565.5, ENST00000299565.9
    Conserved Domains (3) summary
    TIGR00860
    Location:39449
    LIC; Cation transporter family protein
    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
  2. NM_001307945.2NP_001294874.1  neuronal acetylcholine receptor subunit alpha-5 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001294874.1

    Status: REVIEWED

    Source sequence(s)
    AC027228, AJ584706, BM839817, BX332469
    Consensus CDS
    CCDS76786.1
    UniProtKB/TrEMBL
    H0YM98, Q6EWN4
    Related
    ENSP00000453519.1, ENST00000559554.5
    Conserved Domains (1) summary
    pfam02931
    Location:47154
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  3. NM_001395171.1NP_001382100.1  neuronal acetylcholine receptor subunit alpha-5 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027228
  4. NM_001395172.1NP_001382101.1  neuronal acetylcholine receptor subunit alpha-5 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027228
  5. NM_001395173.1NP_001382102.1  neuronal acetylcholine receptor subunit alpha-5 isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027228
  6. NM_001395174.1NP_001382103.1  neuronal acetylcholine receptor subunit alpha-5 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027228
  7. NM_001395175.1NP_001382104.1  neuronal acetylcholine receptor subunit alpha-5 isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027228

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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