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

Gene ID: 1139, updated on 13-Feb-2019

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
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

Genomic context

See CHRNA7 in Genome Data Viewer
Location:
15q13.3
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (32030462..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 OTU deubiquitinase 7A Neighboring gene distal CHRNA7 low-copy repeat recombination region Neighboring gene DEP domain containing 1 pseudogene 1 Neighboring gene uncharacterized LOC105370940 Neighboring gene uncharacterized LOC105370754 Neighboring gene uncharacterized LOC102724078 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
15q13.3 microdeletion syndrome
MedGen: C2677613 OMIM: 612001 GeneReviews: 15q13.3 Microdeletion
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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetylcholine binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to acetylcholine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetylcholine receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
acetylcholine-gated cation-selective channel activity IDA
Inferred from Direct Assay
more info
PubMed 
acetylcholine-gated cation-selective channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
amyloid-beta binding IPI
Inferred from Physical Interaction
more info
PubMed 
calcium channel activity TAS
Traceable Author Statement
more info
PubMed 
chloride channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to extracellular ligand-gated ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion channel activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
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
acetylcholine receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
activation of MAPK activity IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
cognition NAS
Non-traceable Author Statement
more info
PubMed 
dendrite arborization ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic spine organization ISS
Inferred from Sequence or Structural Similarity
more info
 
excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
ion transport NAS
Non-traceable Author Statement
more info
PubMed 
learning or memory ISS
Inferred from Sequence or Structural Similarity
more info
 
memory ISS
Inferred from Sequence or Structural Similarity
more info
 
memory NAS
Non-traceable Author Statement
more info
PubMed 
modulation of excitatory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of amyloid-beta formation IGI
Inferred from Genetic Interaction
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 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of CoA-transferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of ERK1 and ERK2 cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of amyloid-beta formation ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
positive regulation of excitatory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of long-term synaptic potentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of amyloid fibril formation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of amyloid precursor protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of neuron death ISS
Inferred from Sequence or Structural Similarity
more info
 
response to acetylcholine IDA
Inferred from Direct Assay
more info
PubMed 
response to acetylcholine ISS
Inferred from Sequence or Structural Similarity
more info
 
response to amyloid-beta ISS
Inferred from Sequence or Structural Similarity
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 nicotine ISS
Inferred from Sequence or Structural Similarity
more info
 
sensory processing ISS
Inferred from Sequence or Structural Similarity
more info
 
short-term memory ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
synapse organization ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic transmission, cholinergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
acetylcholine-gated channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
plasma membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynapse TAS
Traceable Author Statement
more info
PubMed 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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
    Related
    ENSP00000303727.2, ENST00000306901.8
    Conserved Domains (1) summary
    TIGR00860
    Location:3490
    LIC; Cation transporter family protein
  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
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    32030462..32172521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021884.1XP_016877373.1  neuronal acetylcholine receptor subunit alpha-7 isoform X6

    UniProtKB/Swiss-Prot
    P36544
    UniProtKB/TrEMBL
    A0A0A6YYA8
    Conserved Domains (1) summary
    cl27321
    Location:3309
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  2. XM_011521178.3XP_011519480.1  neuronal acetylcholine receptor subunit alpha-7 isoform X5

    See identical proteins and their annotated locations for XP_011519480.1

    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
  3. XM_017021883.2XP_016877372.1  neuronal acetylcholine receptor subunit alpha-7 isoform X3

  4. XM_017021882.1XP_016877371.1  neuronal acetylcholine receptor subunit alpha-7 isoform X2

  5. XM_011521176.3XP_011519478.2  neuronal acetylcholine receptor subunit alpha-7 isoform X1

  6. XM_011521177.2XP_011519479.1  neuronal acetylcholine receptor subunit alpha-7 isoform X4

    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.p12 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p12 PATCHES

    Range
    4203151..4343066
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_012132920.1 Reference GRCh38.p12 PATCHES

    Range
    357901..497808 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p12 ALT_REF_LOCI_2

    Range
    4315603..4455518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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