U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 177513, updated on 9-Dec-2024

    Summary

    Go to the top of the page Help
    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, Dec 2024]
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    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

    Go to the top of the page Help
    Genomic Sequence:
    NC_003282.8

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

    Go to the top of the pageHelp

    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

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    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

    Go to the top of the page Help
    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)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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
    Heading Accession and Version

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous