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    Chrna1 cholinergic receptor nicotinic alpha 1 subunit [ Rattus norvegicus (Norway rat) ]

    Gene ID: 79557, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Chrna1provided by RGD
    Official Full Name
    cholinergic receptor nicotinic alpha 1 subunitprovided by RGD
    Primary source
    RGD:69277
    See related
    Ensembl:ENSRNOG00000018286 AllianceGenome:RGD:69277
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Enables acetylcholine-gated cation-selective channel activity. Involved in cation transport and skeletal muscle contraction. Part of acetylcholine-gated channel complex. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 1A and congenital myasthenic syndrome 1B. Orthologous to human CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Muscle (RPKM 33.4), Heart (RPKM 3.8) and 1 other tissue See more
    Orthologs
    human mouse all
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    Genomic context

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    See Chrna1 in Genome Data Viewer
    Location:
    3q23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (78862286..78877353, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (58454763..58469832, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (60445657..60460724, complement)

    Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene ring-box 1, pseudogene 2 Neighboring gene uncharacterized LOC108350398 Neighboring gene uncharacterized LOC134486115 Neighboring gene serpin family B member 8 like 1 Neighboring gene chimerin 1 Neighboring gene uncharacterized LOC134486114

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Suppression of ongoing experimental myasthenia by oral treatment with an acetylcholine receptor recombinant fragment. Im SH, et al. J Clin Invest, 1999 Dec. PMID 10606626, Free PMC Article
    2. Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interference. Abdelgany A, et al. Hum Mol Genet, 2003 Oct 15. PMID 12928480
    3. Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. Harper CM, et al. Ann Neurol, 1998 Apr. PMID 9546329
    4. Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit. Milone M, et al. J Neurosci, 1997 Aug 1. PMID 9221765, Free PMC Article
    5. A novel mode-of-action mediated by the fetal muscle nicotinic acetylcholine receptor resulting in developmental toxicity in rats. Rasoulpour RJ, et al. Toxicol Sci, 2012 Jun. PMID 22461452

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    contributes_to acetylcholine binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    contributes_to acetylcholine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to acetylcholine receptor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables acetylcholine-gated monoatomic cation-selective channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables acetylcholine-gated monoatomic cation-selective channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to acetylcholine-gated monoatomic cation-selective channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables acetylcholine-gated monoatomic cation-selective channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in musculoskeletal movement ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neuromuscular junction development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neuromuscular process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neuromuscular synaptic transmission ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neuron cellular homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neuronal action potential ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of membrane potential ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of membrane potential ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to nicotine IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in skeletal muscle contraction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in skeletal muscle contraction ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in skeletal muscle tissue growth ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of acetylcholine-gated channel complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of acetylcholine-gated channel complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in neuromuscular junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in neuromuscular junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in postsynaptic specialization membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    acetylcholine receptor subunit alpha
    Names
    cholinergic receptor nicotinic alpha polypeptide 1
    cholinergic receptor, nicotinic, alpha 1 (muscle)
    cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)

    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.

    mRNA and Protein(s)

    1. NM_024485.2 → NP_077811.1  acetylcholine receptor subunit alpha precursor

      See identical proteins and their annotated locations for NP_077811.1

      Status: PROVISIONAL

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/Swiss-Prot
      P25108
      UniProtKB/TrEMBL
      A6HMA0, A6HMA1
      Related
      ENSRNOP00000024706.3, ENSRNOT00000024706.5
      Conserved Domains (3) summary
      TIGR00860
      Location:21 → 447
      LIC; Cation transporter family protein
      pfam02931
      Location:24 → 231
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:238 → 446
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086021.1 Reference GRCr8

      Range
      78862286..78877353 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P25108.1 GenPept UniProtKB/Swiss-Prot:P25108

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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