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

Gene ID: 1134, updated on 8-Jul-2021

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
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
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Genomic context

See CHRNA1 in Genome Data Viewer
Location:
2q31.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (174747592..174764472, complement)
105.20201022 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 RNA, U7 small nuclear 44 pseudogene Neighboring gene WAS/WASL interacting protein family member 1 Neighboring gene H3 histone pseudogene 6 Neighboring gene uncharacterized LOC105373750 Neighboring gene Sharpr-MPRA regulatory region 431

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

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cation transport IEA
Inferred from Electronic Annotation
more info
 
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
involved_in ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
involved_in nervous system process IBA
Inferred from Biological aspect of Ancestor
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 
involved_in regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
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 signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
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 integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
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 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
PubMed 
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 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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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
    P02708
    UniProtKB/TrEMBL
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

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

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