Gene: CACNA1S (calcium voltage-gated channel subunit alpha1 S) Homo sapiens
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Symbol: CACNA1S
Name: calcium voltage-gated channel subunit alpha1 S
Description: This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CACNL1A3; calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis); calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle; calcium channel, voltage-dependent, L type, alpha 1S subunit; Cav1.1; CCHL1A3; dihydropyridine receptor; dihydropyridine receptor alpha 1 subunit; dihydropyridine-sensitive L-type calcium channel alpha-1 subunit; HOKPP; HOKPP1; hypoPP; MHS5; OTTHUMP00000033931; OTTHUMP00000033932; TTPP1; voltage-dependent L-type calcium channel subunit alpha-1S; voltage-gated calcium channel subunit alpha Cav1.1
Orthologs:
Mus musculus (house mouse) : Cacna1s (calcium channel, voltage-dependent, L type, alpha 1S subunit)  MGI
Rattus norvegicus (Norway rat) : Cacna1s (calcium voltage-gated channel subunit alpha1 S)
Chinchilla lanigera (long-tailed chinchilla) : Cacna1s (calcium voltage-gated channel subunit alpha1 S)
Pan paniscus (bonobo/pygmy chimpanzee) : CACNA1S (calcium voltage-gated channel subunit alpha1 S)
Canis lupus familiaris (dog) : CACNA1S (calcium voltage-gated channel subunit alpha1 S)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Cacna1s (calcium voltage-gated channel subunit alpha1 S)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381201,039,509 - 201,112,566 (-)NCBIGRCh38hg38GRCh38
GRCh371201,008,635 - 201,081,694 (-)NCBIGRCh37hg19GRCh37
Build 361199,275,263 - 199,348,317 (-)NCBINCBI36hg18NCBI36
Build 341197,740,298 - 197,813,351NCBI
Celera1174,132,677 - 174,205,677 (-)NCBI
Cytogenetic Map1q32.1NCBImapview
HuRef1172,175,337 - 172,248,318 (-)NCBI
CHM1_11202,431,280 - 202,504,354 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CACNA1S
NCBI Gene
Ensembl Gene
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RGD Object Information
RGD ID: 736857
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2017-09-05
Status: ACTIVE