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    CHRNA1 cholinergic receptor nicotinic alpha 1 subunit [ Homo sapiens (human) ]

    Gene ID: 1134, updated on 17-Jun-2024

    Summary

    Official Symbol
    CHRNA1provided by HGNC
    Official Full Name
    cholinergic receptor nicotinic alpha 1 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:1955
    See related
    Ensembl:ENSG00000138435 MIM:100690; AllianceGenome:HGNC:1955
    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
    ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A; FCCMS; SCCMS
    Summary
    The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]
    Expression
    Biased expression in prostate (RPKM 1.5), colon (RPKM 0.5) and 9 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CHRNA1 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (174747592..174764472, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (175236308..175253177, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (175612320..175629200, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene WAS/WASL interacting protein family member 1 Neighboring gene uncharacterized LOC124907907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12129 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:175578156-175578368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:175594551-175595290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12130 Neighboring gene Sharpr-MPRA regulatory region 14969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:175629201-175629700 Neighboring gene H3 histone pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:175646775-175647382 Neighboring gene uncharacterized LOC124907908 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:175652041-175652856 Neighboring gene Sharpr-MPRA regulatory region 431 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:175660322-175661184 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:175661185-175662046 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:175679928-175680086 Neighboring gene chimerin 1 Neighboring gene Sharpr-MPRA regulatory region 13906 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:175778728-175779927 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:175788643-175789389 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:175789465-175790079 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:175790080-175790693 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:175828782-175829617 Neighboring gene MPRA-validated peak3936 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:175831556-175832392 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:175869279-175869825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12131

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 binds to nicotinic acetylcholine receptors in muscle cells and neurons 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membrane depolarization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in monoatomic cation transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle cell cellular homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in musculoskeletal movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuromuscular junction development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuromuscular process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuromuscular synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron cellular homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuronal action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to nicotine IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skeletal muscle tissue growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in synaptic transmission, cholinergic IBA
    Inferred from Biological aspect of Ancestor
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neuromuscular junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuromuscular junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neuromuscular junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in neuromuscular junction ISS
    Inferred from Sequence or Structural Similarity
    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
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in postsynaptic specialization 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
    acetylcholine receptor subunit alpha
    Names
    acetylcholine receptor, nicotinic, alpha 1 (muscle)
    cholinergic receptor, nicotinic alpha 1
    cholinergic receptor, nicotinic, alpha 1 (muscle)
    cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)
    muscle nicotinic acetylcholine receptor
    nicotinic acetylcholine receptor alpha subunit
    nicotinic cholinergic receptor alpha 1

    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_008172.1 RefSeqGene

      Range
      5001..21881
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000079.4NP_000070.1  acetylcholine receptor subunit alpha isoform b precursor

      See identical proteins and their annotated locations for NP_000070.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (b), that is missing an internal segment compared to isoform a.
      Source sequence(s)
      AK315312, BC043196, Y00762
      Consensus CDS
      CCDS2261.1
      UniProtKB/Swiss-Prot
      B4DRV6, D3DPE8, P02708
      UniProtKB/TrEMBL
      D3DPE7, E7ENE5, Q53SH4
      Related
      ENSP00000261008.5, ENST00000348749.9
      Conserved Domains (3) summary
      TIGR00860
      Location:4447
      LIC; Cation transporter family protein
      pfam02931
      Location:24231
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:238446
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    2. NM_001039523.3NP_001034612.1  acetylcholine receptor subunit alpha isoform a precursor

      See identical proteins and their annotated locations for NP_001034612.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).
      Source sequence(s)
      AK315312, BC043196, CD013889
      Consensus CDS
      CCDS33331.1
      UniProtKB/Swiss-Prot
      P02708
      UniProtKB/TrEMBL
      Q53SH4
      Related
      ENSP00000261007.5, ENST00000261007.9
      Conserved Domains (3) summary
      TIGR00860
      Location:4472
      LIC; Cation transporter family protein
      pfam02931
      Location:24256
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:263471
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      174747592..174764472 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003256.2XP_016858745.1  acetylcholine receptor subunit alpha isoform X1

    2. XM_017003257.2XP_016858746.1  acetylcholine receptor subunit alpha isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      175236308..175253177 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340332.1XP_054196307.1  acetylcholine receptor subunit alpha isoform X2

    2. XM_054340331.1XP_054196306.1  acetylcholine receptor subunit alpha isoform X1