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CHRNE cholinergic receptor nicotinic epsilon subunit [ Bos taurus (domestic cattle) ]

Gene ID: 281688, updated on 4-Oct-2024

Summary

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Official Symbol
CHRNEprovided by VGNC
Official Full Name
cholinergic receptor nicotinic epsilon subunitprovided by VGNC
Primary source
VGNC:VGNC:27335
See related
Ensembl:ENSBTAG00000004908
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Bos taurus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
Orthologs
human mouse all
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Genomic context

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See CHRNE in Genome Data Viewer
Location:
chromosome: 19
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_09 current ARS-UCD2.0 (GCF_002263795.3) 19 NC_037346.1 (26484743..26489333)

Chromosome 19 - NC_037346.1Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 11 Neighboring gene glycoprotein Ib platelet subunit alpha Neighboring gene chromosome 19 C17orf107 homolog Neighboring gene misshapen like kinase 1 Neighboring gene phospholipase D2

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_037346.1 Chromosome 19 Reference ARS-UCD2.0 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. The CHRNE 470del20 mutation causing congenital myasthenic syndrome in South African Brahman cattle: prevalence, origin, and association with performance traits. Thompson PN, et al. J Anim Sci, 2007 Mar. PMID 17121978
  2. Congenital myasthenic syndrome in cattle due to homozygosity for a truncating mutation in the acetylcholine receptor (AChR) epsilon-subunit gene. Sieb JP, et al. Ann N Y Acad Sci, 2003 Sep. PMID 14592869
  3. Congenital myasthenia in Brahman calves caused by homozygosity for a CHRNE truncating mutation. Kraner S, et al. Neurogenetics, 2002 Oct. PMID 12481987
  4. Cloning, sequencing and expression of cDNA for a novel subunit of acetylcholine receptor from calf muscle. Takai T, et al. Nature, 1985 Jun 27-Jul 3. PMID 3839289
  5. Molecular distinction between fetal and adult forms of muscle acetylcholine receptor. Mishina M, et al. Nature, 1986 May 22-28. PMID 2423878

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. To elucidate the genetic defect in four previously reported related Brahman calves with severe myasthenic weakness, we determined the genomic structure of the gene encoding the bovine epsilon-subunit (bovCHRNE) of the acetylcholine receptor (AChR).
    Title: Congenital myasthenia in Brahman calves caused by homozygosity for a CHRNE truncating mutation.
  2. It was found that mutations within muscle AChRs are the most common cause of CMS. The majority are located within the epsilon-subunit gene and result in AChR deficiency.
    Title: Congenital myasthenic syndrome in cattle due to homozygosity for a truncating mutation in the acetylcholine receptor (AChR) epsilon-subunit gene.
  3. Genotyping of the South African, registered, Brahman cattle population for the 470del20 mutation in the CHRNE gene causing congenital myasthenic syndrome is reported.
    Title: The CHRNE 470del20 mutation causing congenital myasthenic syndrome in South African Brahman cattle: prevalence, origin, and association with performance traits.
Submit: New GeneRIF Correction

General gene information

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Markers

Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables acetylcholine-gated monoatomic cation-selective channel activity IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables transmembrane signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in nervous system process IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in regulation of membrane potential IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
located_in neuron projection IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
acetylcholine receptor subunit epsilon
Names
AchR epsilon subunit
cholinergic receptor, nicotinic, epsilon (muscle)
cholinergic receptor, nicotinic, epsilon polypeptide

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_174272.2 → NP_776697.1  acetylcholine receptor subunit epsilon precursor

    See identical proteins and their annotated locations for NP_776697.1

    Status: PROVISIONAL

    Source sequence(s)
    X02597
    UniProtKB/Swiss-Prot
    P02715, Q547R5
    UniProtKB/TrEMBL
    A0AAF6ZG03
    Related
    ENSBTAP00000042804.4, ENSBTAT00000045415.5
    Conserved Domains (3) summary
    TIGR00860
    Location:21 → 475
    LIC; Cation transporter family protein
    pfam02931
    Location:24 → 240
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:247 → 474
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: GCF_002263795.3-RS_2023_09

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

Reference ARS-UCD2.0 Primary Assembly

Genomic

  1. NC_037346.1 Reference ARS-UCD2.0 Primary Assembly

    Range
    26484743..26489333
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_010815894.4 → XP_010814196.1  acetylcholine receptor subunit epsilon isoform X1

    UniProtKB/TrEMBL
    A0AAF6ZG03
    Related
    ENSBTAP00000092354.1, ENSBTAT00000111472.1
    Conserved Domains (3) summary
    TIGR00860
    Location:21 → 503
    LIC; Cation transporter family protein
    pfam02931
    Location:24 → 240
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:247 → 502
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

  2. XM_015458609.3 → XP_015314095.1  acetylcholine receptor subunit epsilon isoform X2

    UniProtKB/TrEMBL
    A0AAA9T3K5
    Conserved Domains (2) summary
    pfam02931
    Location:24 → 240
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:247 → 405
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P02715.1 GenPept UniProtKB/Swiss-Prot:P02715

Gene LinkOut

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