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

Gene ID: 8973, updated on 25-Nov-2021

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
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
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Genomic context

See CHRNA6 in Genome Data Viewer
Location:
8p11.21
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (42752620..42768786, complement)
105.20201022 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 ribosomal protein L7 like 1 pseudogene Neighboring gene THAP domain containing 1 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
  • 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
Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acetylcholine receptor activity TAS
Traceable Author Statement
more info
PubMed 
enables acetylcholine-gated cation-selective channel activity IEA
Inferred from Electronic Annotation
more info
 
enables neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
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 membrane depolarization IEA
Inferred from Electronic Annotation
more info
 
involved_in nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of dopamine secretion IEA
Inferred from Electronic Annotation
more info
 
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 signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in synaptic transmission, cholinergic IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of acetylcholine-gated channel complex IEA
Inferred from Electronic Annotation
more info
 
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 
located_in integral component of postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
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
 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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.

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
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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