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    Cacna1s calcium channel, voltage-dependent, L type, alpha 1S subunit [ Mus musculus (house mouse) ]

    Gene ID: 12292, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Cacna1sprovided by MGI
    Official Full Name
    calcium channel, voltage-dependent, L type, alpha 1S subunitprovided by MGI
    Primary source
    MGI:MGI:88294
    See related
    Ensembl:ENSMUSG00000026407 AllianceGenome:MGI:88294
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    sj; fmd; mdg; DHPR; Cav1.1; Cchl1a3; DHPR alpha1s
    Summary
    Enables voltage-gated calcium channel activity. Acts upstream of or within several processes, including extraocular skeletal muscle development; myotube differentiation; and skeletal muscle adaptation. Located in T-tubule and sarcoplasmic reticulum. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and hindlimb musculature. Used to study hypokalemic periodic paralysis. Human ortholog(s) of this gene implicated in congenital myopathy 18; hypokalemic periodic paralysis; and malignant hyperthermia. Orthologous to human CACNA1S (calcium voltage-gated channel subunit alpha1 S). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in mammary gland adult (RPKM 14.3), limb E14.5 (RPKM 2.4) and 3 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cacna1s in Genome Data Viewer
    Location:
    1 E4; 1 59.55 cM
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (135980549..136047268)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (136052806..136119822)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene immunoglobulin-like and fibronectin type III domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_02399 Neighboring gene STARR-positive B cell enhancer ABC_E10039 Neighboring gene STARR-positive B cell enhancer ABC_E4348 Neighboring gene transmembrane protein 9 Neighboring gene achaete-scute family bHLH transcription factor 5 Neighboring gene STARR-seq mESC enhancer starr_02400 Neighboring gene STARR-positive B cell enhancer ABC_E2562 Neighboring gene STARR-positive B cell enhancer ABC_E1562 Neighboring gene STARR-positive B cell enhancer mm9_chr1:138036481-138036781 Neighboring gene predicted gene 15850 Neighboring gene kinesin family member 21B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. The biosynthesis and localization of sarcoplasmic reticulum proteins in dysgenic (mdg/mdg) mouse cells. Essien FB, et al. Lab Invest, 1977 Dec. PMID 146110
    2. Multiple loops of the dihydropyridine receptor pore subunit are required for full-scale excitation-contraction coupling in skeletal muscle. Carbonneau L, et al. Biophys J, 2005 Jul. PMID 15849247, Free PMC Article
    3. A probable role of dihydropyridine receptors in repression of Ca2+ sparks demonstrated in cultured mammalian muscle. Zhou J, et al. Am J Physiol Cell Physiol, 2006 Feb. PMID 16148029
    4. CACNA1S expression in mouse retina: Novel isoforms and antibody cross-reactivity with GPR179. Hasan N, et al. Vis Neurosci, 2016 Jan. PMID 27471951, Free PMC Article
    5. The Ca(2+) influx through the mammalian skeletal muscle dihydropyridine receptor is irrelevant for muscle performance. Dayal A, et al. Nat Commun, 2017 Sep 7. PMID 28883413, Free PMC Article

    See all (157) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Voltage-dependent Ca(2+) release is impaired in hypokalemic periodic paralysis caused by CaV1.1-R528H but not by NaV1.4-R669H.
      Title: Voltage-dependent Ca(2+) release is impaired in hypokalemic periodic paralysis caused by Ca(V)1.1-R528H but not by Na(V)1.4-R669H.
    2. MRTF-A regulates Ca(2+) release through CACNA1S.
      Title: MRTF-A regulates Ca(2+) release through CACNA1S.
    3. Pore mutation N617D in the skeletal muscle DHPR blocks Ca(2+) influx due to atypical high-affinity Ca(2+) binding.
      Title: Pore mutation N617D in the skeletal muscle DHPR blocks Ca(2+) influx due to atypical high-affinity Ca(2+) binding.
    4. Divalent cations permeation in a Ca(2+) non-conducting skeletal muscle dihydropyridine receptor mouse model.
      Title: Divalent cations permeation in a Ca(2+) non-conducting skeletal muscle dihydropyridine receptor mouse model.
    5. Dysferlin-deficient myotubes show tethering of different membrane compartments characterized by TMEM16E and DHPRalpha.
      Title: Dysferlin-deficient myotubes show tethering of different membrane compartments characterized by TMEM16E and DHPRα.
    6. Postsynaptic CaV1.1-driven calcium signaling coordinates presynaptic differentiation at the developing neuromuscular junction.
      Title: Postsynaptic Ca(V)1.1-driven calcium signaling coordinates presynaptic differentiation at the developing neuromuscular junction.
    7. CACNA1S haploinsufficiency confers resistance to New World arenavirus infection.
      Title: CACNA1S haploinsufficiency confers resistance to New World arenavirus infection.
    8. Equivalent L-type channel (CaV1.1) function in adult female and male mouse skeletal muscle fibers.
      Title: Equivalent L-type channel (Ca(V)1.1) function in adult female and male mouse skeletal muscle fibers.
    9. An embryonic CaVbeta1 isoform promotes muscle mass maintenance via GDF5 signaling in adult mouse.
      Title: An embryonic CaVβ1 isoform promotes muscle mass maintenance via GDF5 signaling in adult mouse.
    10. The decrease of RyR1 protein content in total homogenates is not accompanied by a decrease of Cav1.1 content, whereby the Cav1.1/RyR1 stoichiometry ratio in skeletal muscles from RyR1Q1970fsX16 heterozygous mice is lower compared to that from WT mice
      Title: Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.
    Submit: New GeneRIF Correction See all GeneRIFs (46)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables high voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables high voltage-gated calcium channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables high voltage-gated calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular function activator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables small molecule binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables voltage-gated calcium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables voltage-gated calcium channel activity ISO
    Inferred from Sequence Orthology
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within calcium ion transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within calcium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to caffeine ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within endoplasmic reticulum organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within extraocular skeletal muscle development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within muscle contraction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in muscle contraction ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within myoblast fusion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuromuscular junction development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of muscle contraction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in release of sequestered calcium ion into cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in release of sequestered calcium ion into cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within skeletal muscle adaptation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within skeletal muscle fiber development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within skeletal muscle fiber development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within skeletal muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within striated muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in I band IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in I band ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of L-type voltage-gated calcium channel complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of L-type voltage-gated calcium channel complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in T-tubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in T-tubule ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in T-tubule NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in dendritic spine head ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sarcolemma ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sarcoplasmic reticulum 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 ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    voltage-dependent L-type calcium channel subunit alpha-1S
    Names
    dihydropyridine receptor alpha 1S
    muscle dysgenesis
    voltage-gated calcium channel subunit alpha Cav1.1

    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.

    mRNA and Protein(s)

    1. NM_001081023.3 → NP_001074492.1  voltage-dependent L-type calcium channel subunit alpha-1S isoform 2

      See identical proteins and their annotated locations for NP_001074492.1

      Status: VALIDATED

      Source sequence(s)
      AC124375, AC124550
      Consensus CDS
      CCDS35724.1
      UniProtKB/Swiss-Prot
      E9Q7B5, E9QPX8, F8VQE0, Q02789, Q3UPG8, Q99240
      UniProtKB/TrEMBL
      F7CNJ1
      Related
      ENSMUSP00000107695.2, ENSMUST00000112064.8
      Conserved Domains (4) summary
      pfam00520
      Location:1117 → 1392
      Ion_trans; Ion transport protein
      pfam08763
      Location:1465 → 1536
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1557 → 1840
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1401 → 1454
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    2. NM_001402949.1 → NP_001389878.1  voltage-dependent L-type calcium channel subunit alpha-1S isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC124375, AC124550
      UniProtKB/TrEMBL
      A0A8I4RSM0
      Related
      ENSMUSP00000125278.2, ENSMUST00000160641.8

    3. NM_014193.4 → NP_055008.2  voltage-dependent L-type calcium channel subunit alpha-1S isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC124375, AC124550
      Consensus CDS
      CCDS48380.1
      UniProtKB/TrEMBL
      F7CNJ1
      Related
      ENSMUSP00000107699.4, ENSMUST00000112068.10
      Conserved Domains (4) summary
      pfam00520
      Location:1135 → 1373
      Ion_trans; Ion transport protein
      pfam08763
      Location:1446 → 1517
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1660 → 1819
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1381 → 1444
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      135980549..136047268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q02789.3 GenPept UniProtKB/Swiss-Prot:Q02789

    Gene LinkOut

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

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools