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

Gene ID: 12292, updated on 8-Dec-2022

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 skeletal musculature. Used to study hypokalemic periodic paralysis. Human ortholog(s) of this gene implicated in hypokalemic periodic paralysis and malignant hyperthermia. Orthologous to human CACNA1S (calcium voltage-gated channel subunit alpha1 S). [provided by Alliance of Genome Resources, Apr 2022]
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
109 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (135980261..136047560)
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 transmembrane protein 9 Neighboring gene achaete-scute family bHLH transcription factor 5 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
  • 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. Pore mutation N617D in the skeletal muscle DHPR blocks Ca(2+) influx due to atypical high-affinity Ca(2+) binding. Dayal A, et al. Elife, 2021 Jun 1. PMID 34061024, Free PMC Article
  2. Divalent cations permeation in a Ca(2+) non-conducting skeletal muscle dihydropyridine receptor mouse model. Idoux R, et al. Cell Calcium, 2020 Nov. PMID 32866694
  3. Equivalent L-type channel (Ca(V)1.1) function in adult female and male mouse skeletal muscle fibers. Beqollari D, et al. Biochem Biophys Res Commun, 2020 Feb 19. PMID 31812241, Free PMC Article
  4. A skeletal muscle L-type Ca(2+) channel with a mutation in the selectivity filter (Ca(V)1.1 E1014K) conducts K. Beqollari D, et al. J Biol Chem, 2018 Mar 2. PMID 29326166, 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 (148) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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 calcium channel activity IEA
Inferred from Electronic Annotation
more info
  
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
 PubMed 
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 monoatomic ion channel activity IEA
Inferred from Electronic Annotation
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
  
enables voltage-gated monoatomic ion 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
 PubMed 
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
  
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 monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
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 
acts_upstream_of_or_within regulation of monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
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 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in I band ISO
Inferred from Sequence Orthology
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 cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in dendritic spine head ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
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
 PubMed 
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
    Q99240
    UniProtKB/TrEMBL
    F8VQE0
    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

  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
    E9QPX8, Q3UPG8
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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
    135980261..136047560
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006529106.4 → XP_006529169.1  voltage-dependent L-type calcium channel subunit alpha-1S isoform X1

    UniProtKB/TrEMBL
    E9Q7B5
    Related
    ENSMUSP00000125278.2, ENSMUST00000160641.8
    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 → 1838
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1401 → 1454
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q02789.3 GenPept UniProtKB/Swiss-Prot:Q02789

Gene LinkOut

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