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

Summary

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, Nov 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

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_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
MRTF-A regulates Ca(2+) release through CACNA1S.
Title: MRTF-A regulates Ca(2+) release through CACNA1S.
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.
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.
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.
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.
CACNA1S haploinsufficiency confers resistance to New World arenavirus infection.
Title: CACNA1S haploinsufficiency confers resistance to New World arenavirus infection.
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.
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.
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)

Spontaneous (1) 1 citation
Targeted (6) 1 citation

General gene information

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Markers

AW493108 (e-PCR)
- UniSTS:178473

Cacna1s (e-PCR), detects polymorphism
- UniSTS:461911

Cacna1s (e-PCR), detects polymorphism
- UniSTS:259197

NoName (e-PCR)
- UniSTS:489615

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)

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

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
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
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