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    CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) [ Homo sapiens (human) ]

    Gene ID: 1137, updated on 27-Jun-2015
    Official Symbol
    CHRNA4provided by HGNC
    Official Full Name
    cholinergic receptor, nicotinic, alpha 4 (neuronal)provided by HGNC
    Primary source
    HGNC:HGNC:1958
    See related
    Ensembl:ENSG00000101204; HPRD:00333; MIM:118504; Vega:OTTHUMG00000033080
    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
    EBN; BFNC; EBN1; NACHR; NACRA4; NACHRA4
    Summary
    This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
    Orthologs
    See CHRNA4 in Epigenomics, MapViewer
    Location:
    20q13.33
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 20 NC_000020.11 (63343310..63361396, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (61974662..62009487, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ADP-ribosylation factor GTPase activating protein 1 Neighboring gene microRNA 4326 Neighboring gene collagen, type XX, alpha 1 Neighboring gene uncharacterized LOC100130587 Neighboring gene uncharacterized LOC102723788 Neighboring gene uncharacterized LOC100130152

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ95812

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    B cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    behavioral response to nicotine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    calcium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cation transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cation transmembrane transport TAS
    Traceable Author Statement
    more info
    PubMed 
    cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    exploration behavior IEA
    Inferred from Electronic Annotation
    more info
     
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
    PubMed 
    ion transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    membrane depolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neurological system process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuromuscular synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of dopamine secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of inhibitory postsynaptic membrane potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of membrane potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    respiratory gaseous exchange IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to nicotine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sensory perception of pain ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synaptic transmission NAS
    Non-traceable Author Statement
    more info
    PubMed 
    synaptic transmission TAS
    Traceable Author Statement
    more info
     
    synaptic transmission, cholinergic IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    synaptic transmission, cholinergic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    acetylcholine-gated channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    external side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    neuronal acetylcholine receptor subunit alpha-4
    Names
    neuronal acetylcholine receptor subunit alpha-4
    cholinergic receptor, nicotinic, alpha polypeptide 4
    neuronal nicotinic acetylcholine receptor alpha-4 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_011931.1 RefSeqGene

      Range
      4948..23034
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000744.6NP_000735.1  neuronal acetylcholine receptor subunit alpha-4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000735.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB209359, AK296430, AL121827, BC096291, L35901, U62433
      Consensus CDS
      CCDS13517.1
      UniProtKB/TrEMBL
      B4DK78
      UniProtKB/Swiss-Prot
      P43681
      UniProtKB/TrEMBL
      Q59FV0
      Related
      ENSP00000359285, OTTHUMP00000031784, ENST00000370263, OTTHUMT00000080508
      Conserved Domains (3) summary
      pfam02931
      Location:37243
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:250618
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
      cl00944
      Location:384473
      KdpC; K+-transporting ATPase, c chain
    2. NM_001256573.1NP_001243502.1  neuronal acetylcholine receptor subunit alpha-4 isoform 2

      See identical proteins and their annotated locations for NP_001243502.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AB209359, AK296430, AL121827, BC096291, BC096292, L35901, U62433
      UniProtKB/TrEMBL
      B4DK78
      UniProtKB/Swiss-Prot
      P43681
      UniProtKB/TrEMBL
      Q4VAQ3
      UniProtKB/TrEMBL
      Q59FV0
      Conserved Domains (3) summary
      pfam02931
      Location:167
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:74442
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
      cl00944
      Location:208297
      KdpC; K+-transporting ATPase, c chain

    RNA

    1. NR_046317.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB209359, AK296430, AL121827, BC096291, BC096293, L35901, U62433

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p2 Primary Assembly

      Range
      63343310..63361396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528524.1XP_011526826.1  

      See identical proteins and their annotated locations for XP_011526826.1

      Conserved Domains (3) summary
      pfam02931
      Location:58172
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:179547
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
      cl00944
      Location:313402
      KdpC; K+-transporting ATPase, c chain

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      61875694..61893903
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)