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    CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) [ Homo sapiens (human) ]

    Gene ID: 1139, updated on 5-Jul-2015
    Official Symbol
    CHRNA7provided by HGNC
    Official Full Name
    cholinergic receptor, nicotinic, alpha 7 (neuronal)provided by HGNC
    Primary source
    HGNC:HGNC:1960
    See related
    Ensembl:ENSG00000175344; HPRD:00339; MIM:118511; Vega:OTTHUMG00000129285
    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
    NACHRA7; CHRNA7-2
    Summary
    The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
    Orthologs
    See CHRNA7 in Epigenomics, MapViewer
    Location:
    15q14
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (32030483..32172521)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (32322686..32462384)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370753 Neighboring gene OTU deubiquitinase 7A Neighboring gene DEP domain containing 1 pseudogene 1 Neighboring gene uncharacterized LOC105370940 Neighboring gene uncharacterized LOC105370754 Neighboring gene uncharacterized LOC102724078 Neighboring gene uncharacterized LOC105376709 Neighboring gene hyperpolarization activated cyclic nucleotide gated potassium channel 2 pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    Dosage sensitivity unlikely (Last evaluated (2013-11-21)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2013-11-21)

    ClinGen Genome Curation PagePubMed

    Replication interactions

    Interaction Pubs
    Knockdown of cholinergic receptor, nicotinic, alpha 7 (CHRNA7) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 induces mucus formation through the NACHRA7/GABRA2 pathway in normal human bronchial epithelial cells PubMed
    env HIV-1 gp120-mediated CXCR4 activation induces upregulation of neuronal nicotinic receptor, alpha-7 PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acetylcholine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acetylcholine receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acetylcholine-activated cation-selective channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acetylcholine-gated cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    beta-amyloid binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    chloride channel regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    toxic substance binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of MAPK activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cation transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cellular calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cognition NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ion transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    memory NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of tumor necrosis factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of tumor necrosis factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to nicotine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synaptic transmission TAS
    Traceable Author Statement
    more info
     
    synaptic transmission, cholinergic IBA
    Inferred from Biological aspect of Ancestor
    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
     
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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-7
    Names
    a7 nicotinic acetylcholine receptor
    alpha 7 neuronal nicotinic acetylcholine receptor
    alpha-7 nicotinic cholinergic receptor subunit
    cholinergic receptor, nicotinic, alpha polypeptide 7
    neuronal acetylcholine receptor protein, alpha-7 chain

    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_009216.1 RefSeqGene

      Range
      4961..144659
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000746.5NP_000737.1  neuronal acetylcholine receptor subunit alpha-7 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000737.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an in-frame portion of the 5' coding region, compared to variant 2. The resulting isoform (1) has a shorter N-terminus, compared to isoform 2.
      Source sequence(s)
      AC068448, AK292069, BC037571, BI789267, DA583811
      Consensus CDS
      CCDS10027.1
      UniProtKB/Swiss-Prot
      P36544
      Conserved Domains (3) summary
      TIGR00860
      Location:3490
      LIC; Cation transporter family protein
      pfam02931
      Location:26230
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:237486
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    2. NM_001190455.2NP_001177384.1  neuronal acetylcholine receptor subunit alpha-7 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001177384.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longer isoform (2).
      Source sequence(s)
      AC068448, AK294229, BI789267, DA583811, U62436
      Consensus CDS
      CCDS53924.1
      UniProtKB/Swiss-Prot
      P36544
      Conserved Domains (3) summary
      TIGR00860
      Location:3519
      LIC; Cation transporter family protein
      pfam02931
      Location:55259
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:266515
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    RNA

    1. NR_046324.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate 5' segment and an internal exon, compared to variant 2. 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)
      AC068448, BC037571, BI789267, DA583811, U62436

    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_000015.10 Reference GRCh38.p2 Primary Assembly

      Range
      32030483..32172521
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521178.1XP_011519480.1  

      See identical proteins and their annotated locations for XP_011519480.1

      Conserved Domains (3) summary
      pfam07259
      Location:264380
      ProSAAS; ProSAAS precursor
      pfam02931
      Location:26230
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:237293
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    2. XM_011521179.1XP_011519481.1  

      See identical proteins and their annotated locations for XP_011519481.1

      Conserved Domains (2) summary
      pfam02931
      Location:149
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:56305
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    3. XM_011521176.1XP_011519478.1  

      See identical proteins and their annotated locations for XP_011519478.1

      Related
      ENSP00000303727, OTTHUMP00000159615, ENST00000306901, OTTHUMT00000251410
      Conserved Domains (3) summary
      pfam02931
      Location:1151
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:158407
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
      TIGR00860
      Location:1411
      LIC; Cation transporter family protein
    4. XM_011521175.1XP_011519477.1  

      See identical proteins and their annotated locations for XP_011519477.1

      Conserved Domains (2) summary
      pfam02931
      Location:41154
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:161410
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    5. XM_011521177.1XP_011519479.1  

      See identical proteins and their annotated locations for XP_011519479.1

      Conserved Domains (2) summary
      pfam02931
      Location:17129
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:136385
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    Reference GRCh38.p2 PATCHES

    Genomic

    1. NW_011332701.1 Reference GRCh38.p2 PATCHES

      Range
      4203151..4345892
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011548896.1XP_011547198.1  

      See identical proteins and their annotated locations for XP_011547198.1

      Conserved Domains (3) summary
      pfam07259
      Location:264380
      ProSAAS; ProSAAS precursor
      pfam02931
      Location:26230
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:237293
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    2. XM_011548897.1XP_011547199.1  

      See identical proteins and their annotated locations for XP_011547199.1

      Conserved Domains (2) summary
      pfam02931
      Location:149
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:56305
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    3. XM_011548894.1XP_011547196.1  

      See identical proteins and their annotated locations for XP_011547196.1

      Conserved Domains (3) summary
      pfam02931
      Location:1151
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:158407
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
      TIGR00860
      Location:1411
      LIC; Cation transporter family protein
    4. XM_011548893.1XP_011547195.1  

      See identical proteins and their annotated locations for XP_011547195.1

      Conserved Domains (2) summary
      pfam02931
      Location:41154
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:161410
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    5. XM_011548895.1XP_011547197.1  

      See identical proteins and their annotated locations for XP_011547197.1

      Conserved Domains (2) summary
      pfam02931
      Location:17129
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:136385
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    Reference GRCh38.p2 ALT_REF_LOCI_2

    Genomic

    1. NT_187660.1 Reference GRCh38.p2 ALT_REF_LOCI_2

      Range
      4315603..4458344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547386.1XP_011545688.1  

      See identical proteins and their annotated locations for XP_011545688.1

      Conserved Domains (3) summary
      pfam07259
      Location:264380
      ProSAAS; ProSAAS precursor
      pfam02931
      Location:26230
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:237293
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    2. XM_011547387.1XP_011545689.1  

      See identical proteins and their annotated locations for XP_011545689.1

      Conserved Domains (2) summary
      pfam02931
      Location:149
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:56305
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    3. XM_011547383.1XP_011545685.1  

      See identical proteins and their annotated locations for XP_011545685.1

      Conserved Domains (3) summary
      pfam02931
      Location:1151
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:158407
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
      TIGR00860
      Location:1411
      LIC; Cation transporter family protein
    4. XM_011547382.1XP_011545684.1  

      See identical proteins and their annotated locations for XP_011545684.1

      Conserved Domains (2) summary
      pfam02931
      Location:41154
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:161410
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    5. XM_011547384.1XP_011545686.1  

      See identical proteins and their annotated locations for XP_011545686.1

      Conserved Domains (2) summary
      pfam02931
      Location:17129
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:136385
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      32312897..32452812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)