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    CHRNA6 cholinergic receptor nicotinic alpha 6 subunit [ Homo sapiens (human) ]

    Gene ID: 8973, updated on 2-Nov-2024

    Summary

    Official Symbol
    CHRNA6provided by HGNC
    Official Full Name
    cholinergic receptor nicotinic alpha 6 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:15963
    See related
    Ensembl:ENSG00000147434 MIM:606888; AllianceGenome:HGNC:15963
    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
    CHNRA6
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CHRNA6 in Genome Data Viewer
    Location:
    8p11.21
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (42752620..42768786, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (43020720..43036889, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42607763..42623929, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379396 Neighboring gene cholinergic receptor nicotinic beta 3 subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42575441-42575940 Neighboring gene RPL7L1 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42649154-42649988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27317 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:42671563-42671730 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:42698061-42698851 Neighboring gene uncharacterized LOC124901940 Neighboring gene THAP domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27319 Neighboring gene ring finger protein 170 Neighboring gene RNA, 7SL, cytoplasmic 806, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    EBI GWAS Catalog

    Description
    Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to acetylcholine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables acetylcholine-gated monoatomic cation-selective channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in acetylcholine receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 membrane depolarization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in monoatomic ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in presynaptic modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of dopamine secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nicotine IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in synaptic transmission, cholinergic IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of acetylcholine-gated channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in dopaminergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    neuronal acetylcholine receptor subunit alpha-6
    Names
    acetylcholine receptor, nicotinic, alpha 6 (neuronal)
    alpha(alpha)6 nicotinic acetylcholine receptor (nAChR) subunit
    cholinergic receptor, nicotinic alpha 6
    cholinergic receptor, nicotinic, alpha 6 (neuronal)
    cholinergic receptor, nicotinic, alpha polypeptide 6

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001199279.1NP_001186208.1  neuronal acetylcholine receptor subunit alpha-6 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001186208.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AK298798, BC014456, DC307404
      Consensus CDS
      CCDS56536.1
      UniProtKB/Swiss-Prot
      Q15825
      Related
      ENSP00000433871.1, ENST00000534622.5
      Conserved Domains (3) summary
      TIGR00860
      Location:34469
      LIC; Cation transporter family protein
      pfam02931
      Location:34225
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:232468
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    2. NM_004198.3NP_004189.1  neuronal acetylcholine receptor subunit alpha-6 isoform 1 precursor

      See identical proteins and their annotated locations for NP_004189.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC014456, DC307404
      Consensus CDS
      CCDS6135.1
      UniProtKB/Swiss-Prot
      B2R8V4, B4DQH1, Q15825
      Related
      ENSP00000276410.3, ENST00000276410.7
      Conserved Domains (1) summary
      cl27321
      Location:34484
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      42752620..42768786 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422396.1XP_047278352.1  neuronal acetylcholine receptor subunit alpha-6 isoform X1

      UniProtKB/Swiss-Prot
      B2R8V4, B4DQH1, Q15825

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      43020720..43036889 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361454.1XP_054217429.1  neuronal acetylcholine receptor subunit alpha-6 isoform X1

      UniProtKB/Swiss-Prot
      B2R8V4, B4DQH1, Q15825