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

    Gene ID: 1139, updated on 11-Apr-2024

    Summary

    Official Symbol
    CHRNA7provided by HGNC
    Official Full Name
    cholinergic receptor nicotinic alpha 7 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:1960
    See related
    Ensembl:ENSG00000175344 MIM:118511; AllianceGenome:HGNC:1960
    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]
    Expression
    Broad expression in adrenal (RPKM 4.1), small intestine (RPKM 4.1) and 19 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CHRNA7 in Genome Data Viewer
    Location:
    15q13.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (32030483..32173018)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (29824630..29967342)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (32322686..32465219)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene OTU deubiquitinase 7A Neighboring gene uncharacterized LOC124903455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:32091007-32091506 Neighboring gene DEP domain containing 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 11410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:32197193-32197694 Neighboring gene small nucleolar RNA SNORA18 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:32267901-32268583 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:32269149-32269715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:32269716-32270281 Neighboring gene uncharacterized LOC124903441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:32322777-32323342 Neighboring gene MPRA-validated peak2289 silencer Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:32444189-32444690 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:32444691-32445190 Neighboring gene uncharacterized LOC102724078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:32475571-32476072 Neighboring gene NANOG hESC enhancer GRCh37_chr15:32557858-32558397 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:32568842-32569342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:32584971-32585470 Neighboring gene RNA, U6 small nuclear 18, pseudogene Neighboring gene hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 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
    Chromosome 15q13.3 microdeletion syndrome
    MedGen: C2677613 OMIM: 612001 GeneReviews: 15q13.3 Recurrent Deletion
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2018-05-10)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2018-05-10)

    ClinGen Genome Curation Page

    HIV-1 interactions

    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 infection upregulates CHRNA7 expression in basal ganglia of HIV infected patients PubMed
    env HIV-1 IIIB Env (gp120) engages CXCR4 and downregulates CHRFAM7A expression in neuronal cells and induces expression of CHRNA7 PubMed
    env HIV-1 IIIB Env (gp120) upregulates CHRNA7 in monocyte derived macrophages PubMed
    env HIV-1 gp120-mediated CXCR4 activation induces upregulation of neuronal nicotinic receptor, alpha-7 PubMed
    env HIV-1 gp120 induces mucus formation through the NACHRA7/GABRA2 pathway in normal human bronchial epithelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in acetylcholine receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cognition NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in dendrite arborization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dendritic spine organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in learning or memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in memory NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in modulation of excitatory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in monoatomic ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in monoatomic ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in monoatomic ion transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of amyloid-beta formation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of tumor necrosis factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of tumor necrosis factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of CoA-transferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of ERK1 and ERK2 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of amyloid-beta formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of excitatory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of long-term synaptic potentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of amyloid fibril formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of amyloid precursor protein catabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to acetylcholine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to acetylcholine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to amyloid-beta ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to nicotine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to nicotine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sensory processing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in short-term memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in synapse organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in synaptic transmission, cholinergic IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of acetylcholine-gated channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of acetylcholine-gated channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in postsynapse TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in postsynaptic 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-7
    Names
    a7 nicotinic acetylcholine receptor
    alpha 7 neuronal nicotinic acetylcholine receptor
    alpha-7 nicotinic cholinergic receptor subunit
    cholinergic receptor, nicotinic alpha 7
    cholinergic receptor, nicotinic, alpha 7 (neuronal)
    cholinergic receptor, nicotinic, alpha polypeptide 7
    neuronal acetylcholine receptor protein, alpha-7 chain

    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.

    Genomic

    1. NG_009216.2 RefSeqGene

      Range
      5034..147537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000746.6NP_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
      Consensus CDS
      CCDS10027.1
      UniProtKB/Swiss-Prot
      A8K7Q4, B4DFS0, P36544, Q15826, Q8IUZ4, Q96RH2, Q99555, Q9BXH0
      UniProtKB/TrEMBL
      A0A1W2PN81, Q5W554
      Related
      ENSP00000303727.2, ENST00000306901.9
      Conserved Domains (1) summary
      TIGR00860
      Location:3490
      LIC; Cation transporter family protein
    2. NM_001190455.3NP_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, U62436
      Consensus CDS
      CCDS53924.1
      UniProtKB/TrEMBL
      A0A1W2PN81, Q5W554
      Related
      ENSP00000407546.3, ENST00000454250.7
      Conserved Domains (1) summary
      TIGR00860
      Location:3519
      LIC; Cation transporter family protein

    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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      32030483..32173018
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521178.4XP_011519480.1  neuronal acetylcholine receptor subunit alpha-7 isoform X5

      See identical proteins and their annotated locations for XP_011519480.1

      UniProtKB/TrEMBL
      A0A1B0GTT9
      Related
      ENSP00000489834.1, ENST00000635884.1
      Conserved Domains (2) summary
      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_011521176.4XP_011519478.2  neuronal acetylcholine receptor subunit alpha-7 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GVH2
      Related
      ENSP00000490365.1, ENST00000637183.1
    3. XM_047432126.1XP_047288082.1  neuronal acetylcholine receptor subunit alpha-7 isoform X2

    4. XM_047432127.1XP_047288083.1  neuronal acetylcholine receptor subunit alpha-7 isoform X3

    5. XM_011521177.3XP_011519479.1  neuronal acetylcholine receptor subunit alpha-7 isoform X4

      See identical proteins and their annotated locations for XP_011519479.1

      UniProtKB/TrEMBL
      A0A0G2JMC1
      Related
      ENST00000637189.1
      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.p14 PATCHES

    Genomic

    1. NW_011332701.1 Reference GRCh38.p14 PATCHES

      Range
      4203151..4345901
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331738.1XP_054187713.1  neuronal acetylcholine receptor subunit alpha-7 isoform X5

    2. XM_054331737.1XP_054187712.1  neuronal acetylcholine receptor subunit alpha-7 isoform X1

    3. XM_054331734.1XP_054187709.1  neuronal acetylcholine receptor subunit alpha-7 isoform X2

    4. XM_054331735.1XP_054187710.1  neuronal acetylcholine receptor subunit alpha-7 isoform X3

    5. XM_054331736.1XP_054187711.1  neuronal acetylcholine receptor subunit alpha-7 isoform X4

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_012132920.1 Reference GRCh38.p14 PATCHES

      Range
      355066..497808 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331868.1XP_054187843.1  neuronal acetylcholine receptor subunit alpha-7 isoform X5

    2. XM_054331869.1XP_054187844.1  neuronal acetylcholine receptor subunit alpha-7 isoform X6

      UniProtKB/TrEMBL
      A0A0A6YYA8
    3. XM_054331864.1XP_054187839.1  neuronal acetylcholine receptor subunit alpha-7 isoform X1

    4. XM_054331866.1XP_054187841.1  neuronal acetylcholine receptor subunit alpha-7 isoform X3

    5. XM_054331865.1XP_054187840.1  neuronal acetylcholine receptor subunit alpha-7 isoform X2

    6. XM_054331867.1XP_054187842.1  neuronal acetylcholine receptor subunit alpha-7 isoform X4

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      4315603..4458353
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330001.1XP_054185976.1  neuronal acetylcholine receptor subunit alpha-7 isoform X5

    2. XM_054330000.1XP_054185975.1  neuronal acetylcholine receptor subunit alpha-7 isoform X1

    3. XM_054329997.1XP_054185972.1  neuronal acetylcholine receptor subunit alpha-7 isoform X2

    4. XM_054329998.1XP_054185973.1  neuronal acetylcholine receptor subunit alpha-7 isoform X3

    5. XM_054329999.1XP_054185974.1  neuronal acetylcholine receptor subunit alpha-7 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      29824630..29967342
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377233.1XP_054233208.1  neuronal acetylcholine receptor subunit alpha-7 isoform X5

    2. XM_054377229.1XP_054233204.1  neuronal acetylcholine receptor subunit alpha-7 isoform X1

    3. XM_054377230.1XP_054233205.1  neuronal acetylcholine receptor subunit alpha-7 isoform X2

    4. XM_054377231.1XP_054233206.1  neuronal acetylcholine receptor subunit alpha-7 isoform X3

    5. XM_054377232.1XP_054233207.1  neuronal acetylcholine receptor subunit alpha-7 isoform X4