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

Gene ID: 1137, updated on 3-May-2020

Summary

Official Symbol
CHRNA4provided by HGNC
Official Full Name
cholinergic receptor nicotinic alpha 4 subunitprovided by HGNC
Primary source
HGNC:HGNC:1958
See related
Ensembl:ENSG00000101204 MIM:118504
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]
Expression
Biased expression in liver (RPKM 3.9), brain (RPKM 3.0) and 4 other tissues See more
Orthologs

Genomic context

See CHRNA4 in Genome Data Viewer
Location:
20q13.33
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (63343223..63375471, 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 collagen type XX alpha 1 chain Neighboring gene RNA, U6 small nuclear 994, pseudogene Neighboring gene uncharacterized LOC100130587 Neighboring gene uncharacterized LOC105372724 Neighboring gene potassium voltage-gated channel subfamily Q member 2 Neighboring gene uncharacterized LOC105372721

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

NHGRI GWAS Catalog

Description
A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ95812

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to acetylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetylcholine binding IC
Inferred by Curator
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 TAS
Traceable Author Statement
more info
PubMed 
ligand-gated ion channel activity TAS
Traceable Author Statement
more info
PubMed 
neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 
acetylcholine receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
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
 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chemical synaptic transmission NAS
Non-traceable Author Statement
more info
PubMed 
cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
exploration behavior IEA
Inferred from Electronic Annotation
more info
 
inhibitory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
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
 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nervous system process IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuromuscular synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of dopamine secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of membrane potential ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of synaptic vesicle exocytosis IEA
Inferred from Electronic Annotation
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
synaptic transmission, cholinergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic transmission, cholinergic ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
dopaminergic synapse IEA
Inferred from Electronic Annotation
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 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

General protein information

Preferred Names
neuronal acetylcholine receptor subunit alpha-4
Names
cholinergic receptor, nicotinic alpha 4
cholinergic receptor, nicotinic, alpha 4 (neuronal)
cholinergic receptor, nicotinic, alpha polypeptide 4
neuronal nicotinic acetylcholine receptor alpha-4 subunit

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_011931.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_000744.7NP_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/Swiss-Prot
    P43681
    UniProtKB/TrEMBL
    B4DK78, Q59FV0
    Related
    ENSP00000359285.4, ENST00000370263.9
    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
    pfam06484
    Location:423572
    Ten_N; Teneurin Intracellular Region
  2. NM_001256573.2NP_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/Swiss-Prot
    P43681
    UniProtKB/TrEMBL
    B4DK78, Q4VAQ3, Q59FV0
    Conserved Domains (3) summary
    pfam02932
    Location:74442
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    cl26247
    Location:216320
    DNA_pol3_delta2; DNA polymerase III, delta subunit
    cl27321
    Location:167
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

RNA

  1. NR_046317.2 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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    63343223..63375471 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027625.2XP_016883114.1  neuronal acetylcholine receptor subunit alpha-4 isoform X2

    UniProtKB/TrEMBL
    Q4VAQ3
    Conserved Domains (3) summary
    pfam02932
    Location:74442
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    cl26247
    Location:216320
    DNA_pol3_delta2; DNA polymerase III, delta subunit
    cl27321
    Location:167
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  2. XM_011528524.1XP_011526826.1  neuronal acetylcholine receptor subunit alpha-4 isoform X1

    See identical proteins and their annotated locations for XP_011526826.1

    UniProtKB/Swiss-Prot
    P43681
    Related
    ENSP00000483388.1, ENST00000615287.4
    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
    pfam06484
    Location:352501
    Ten_N; Teneurin Intracellular Region
  3. XM_024451822.1XP_024307590.1  neuronal acetylcholine receptor subunit alpha-4 isoform X2

    Conserved Domains (3) summary
    pfam02932
    Location:74442
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    cl26247
    Location:216320
    DNA_pol3_delta2; DNA polymerase III, delta subunit
    cl27321
    Location:167
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
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