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egl-19 Voltage-dependent L-type calcium channel subunit alpha [ Caenorhabditis elegans ]

Gene ID: 177513, updated on 4-Jan-2025

Summary

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Official Symbol
egl-19
Official Full Name
Voltage-dependent L-type calcium channel subunit alpha
Primary source
WormBase:WBGene00001187
Locus tag
CELE_C48A7.1
See related
AllianceGenome:WB:WBGene00001187
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Caenorhabditis elegans (strain: Bristol N2)
Lineage
Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
Summary
Enables voltage-gated calcium channel activity. Involved in several processes, including determination of left/right asymmetry in nervous system; positive regulation of striated muscle contraction; and regulation of nematode pharyngeal pumping. Located in plasma membrane. Is expressed in several structures, including arcade cell; hypodermis; nervous system; non-striated muscle; and pharynx. Used to study Duchenne muscular dystrophy and Timothy syndrome. Human ortholog(s) of this gene implicated in several diseases, including Brugada syndrome 3; Timothy syndrome; eye disease (multiple); hypokalemic periodic paralysis; and muscle tissue disease (multiple). Orthologous to several human genes including CACNA1C (calcium voltage-gated channel subunit alpha1 C); CACNA1F (calcium voltage-gated channel subunit alpha1 F); and CACNA1S (calcium voltage-gated channel subunit alpha1 S). [provided by Alliance of Genome Resources, Jan 2025]
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Genomic context

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See egl-19 in Genome Data Viewer
Location:
chromosome: IV
Exon count:
17
Sequence:
Chromosome: IV; NC_003282.8 (7405582..7418740)

Chromosome IV - NC_003282.8Genomic Context describing neighboring genes Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene Uncharacterized protein Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene Uncharacterized protein Neighboring gene ncRNA

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_003282.8

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Mutations in the alpha1 subunit of an L-type voltage-activated Ca2+ channel cause myotonia in Caenorhabditis elegans. Lee RY, et al. EMBO J, 1997 Oct 15. PMID 9321386, Free PMC Article
  2. The L-type voltage-dependent Ca2+ channel EGL-19 controls body wall muscle function in Caenorhabditis elegans. Jospin M, et al. J Cell Biol, 2002 Oct 28. PMID 12391025, Free PMC Article
  3. Muscular degeneration in the absence of dystrophin is a calcium-dependent process. Mariol MC, et al. Curr Biol, 2001 Oct 30. PMID 11696327
  4. Hyperactivation of L-type voltage-gated Ca2+ channels in Caenorhabditis elegans striated muscle can result from point mutations in the IS6 or the IIIS4 segment of the α1 subunit. Lainé V, et al. J Exp Biol, 2014 Nov 1. PMID 25214488
  5. Arrhythmogenic effects of mutated L-type Ca 2+-channels on an optogenetically paced muscular pump in Caenorhabditis elegans. Schüler C, et al. Sci Rep, 2015 Sep 24. PMID 26399900, Free PMC Article

See all (133) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Results identify two egl-19 gain-of-function mutations that are equivalent to the Timothy syndrome G402R and G406R mutations causing overextension of the PLM axon, leading to the misplacement of electrical synapses. Moreover, egl-19 gain-of-function mutations interact genetically with a homolog of the autism-associated WDFY3 selective autophagy gene to disrupt axon development and alter behavior.
    Title: An autism-causing calcium channel variant functions with selective autophagy to alter axon targeting and behavior.
  2. Here the authors show that the Caenorhabditis elegans SHN-1/Shank binds L-type calcium channels and that increased and decreased shn-1 gene dosage alter L-channel current and activity-induced expression of a CRH-1/CREB transcriptional target (gem-4 Copine).
    Title: Shank is a dose-dependent regulator of Ca(v)1 calcium current and CREB target expression.
  3. SLO-1 and SLO-2 localize close to UNC-2 and EGL-19 in AWC, suggesting a role of possible functional coupling between SLO BK channels and voltage-activated calcium channels in AWC asymmetry.
    Title: SLO BK Potassium Channels Couple Gap Junctions to Inhibition of Calcium Signaling in Olfactory Neuron Diversification.
  4. Hyperactivation of L-type voltage-gated Ca2+ channels in Caenorhabditis elegans striated muscle can result from point mutations in the IS6 or the IIIS4 segment of the alpha1 subunit.
    Title: Hyperactivation of L-type voltage-gated Ca2+ channels in Caenorhabditis elegans striated muscle can result from point mutations in the IS6 or the IIIS4 segment of the α1 subunit.
  5. EGL-19, UNC-36, and CCB-1 underlie voltage-dependent calcium currents in C. elegans striated muscle.
    Title: The alpha1 subunit EGL-19, the alpha2/delta subunit UNC-36, and the beta subunit CCB-1 underlie voltage-dependent calcium currents in Caenorhabditis elegans striated muscle.
  6. central role for EGL-19 and UNC-36 in excitability and functional activity of the mechanosensory neurons
    Title: Effects of voltage-gated calcium channel subunit genes on calcium influx in cultured C. elegans mechanosensory neurons.
  7. EGL-19 activates at high voltages and inactivates slowly; thus it may maintain the plateau phase of the action potential.
    Title: CCA-1, EGL-19 and EXP-2 currents shape action potentials in the Caenorhabditis elegans pharynx.
Submit: New GeneRIF Correction

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by WormBase

Function Evidence Code Pubs
enables calcium channel activity IEA
Inferred from Electronic Annotation
more info
  
enables high voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
  
enables voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables voltage-gated calcium channel activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in calcium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in determination of left/right asymmetry in nervous system IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of locomotion IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in positive regulation of striated muscle contraction IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in positive regulation of striated muscle contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of nematode pharyngeal pumping IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of striated muscle contraction IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
part_of monoatomic ion channel complex IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
part_of voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of voltage-gated calcium channel complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
Voltage-dependent L-type calcium channel subunit alpha
NP_001023079.1
  • Confirmed by transcript evidence
NP_001368449.1
  • Confirmed by transcript evidence
NP_741442.1
  • Confirmed by transcript evidence

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

  1. NC_003282.8 Reference assembly

    Range
    7405582..7418740
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001027908.6 → NP_001023079.1  Voltage-dependent L-type calcium channel subunit alpha [Caenorhabditis elegans]

    See identical proteins and their annotated locations for NP_001023079.1

    Status: REVIEWED

    UniProtKB/TrEMBL
    Q8MQA1
    Conserved Domains (3) summary
    pfam00520
    Location:1134 → 1376
    Ion_trans; Ion transport protein
    pfam08763
    Location:1449 → 1521
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16905
    Location:1384 → 1447
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  2. NM_171379.6 → NP_741442.1  Voltage-dependent L-type calcium channel subunit alpha [Caenorhabditis elegans]

    See identical proteins and their annotated locations for NP_741442.1

    Status: REVIEWED

    UniProtKB/TrEMBL
    G5EG02
    Conserved Domains (3) summary
    pfam00520
    Location:1134 → 1376
    Ion_trans; Ion transport protein
    pfam08763
    Location:1449 → 1521
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16905
    Location:1384 → 1447
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  3. NM_001380322.1 → NP_001368449.1  Voltage-dependent L-type calcium channel subunit alpha [Caenorhabditis elegans]

    Status: REVIEWED

    UniProtKB/TrEMBL
    W6RY76
Nucleotide Protein
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