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FLASH GENE

Symbol

CACNA1S

contributors: mct/npt - updated : 21-12-2022

HGNC name	calcium channel, voltage-dependent, L type, alpha 1S subunit
HGNC id	1397

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HOKPP1 hypokalemic periodic paralysis MHS5 malignant hyperthermia susceptibility, 5
Location	1q32.1      Physical location : 201.008.640 - 201.081.694
Synonym name	dehydropyridine sensitive receptor, alpha 1 subunit
	calcium channel, L type,alpha 1 polypeptide, isoform 3, skeletal muscle
	voltage- gated calcium channel subunit alpha Cav1.1
	dihydropyridine receptor
Synonym symbol(s)	CACNL1A3, CCHL3A1, hypoPP, CACN1, CACH1, Cav1.1, HOKPP

DNA

TYPE	functioning gene
STRUCTURE	73.05 kb     44 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	CarG box in the promoter of CACNA1S

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000069 44 - 6168 NP_000060 - 1873 - 1994 7713519

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Respiratory respiratory tract larynx       Visual eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Visual bipolar cell Homo sapiens Visual rod photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four transmembrane (4TM) domains of homology
	six alpha helical membrane spanning segments (24 transmembrane segments)
	an EC loop between domains II and III

HOMOLOGY

interspecies

homolog to murine Mdg (muscular dysgenesis gene)

Homologene

FAMILY

calcium channel alpha-1 subunit family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
text	plasma lemma and transverse T tubules

basic FUNCTION	calcium voltage-gated channel (VDCC), L (long lasting) type
	involved in excitation-contraction coupling
	like CACNA1B, interacts directly with RYR1 and is critical for the generation of high-speed Ca(2+) signals coupled to membrane depolarization
	role for CACNA1S independent of its calcium channel activity, in the activation of signaling pathways allowing muscle fibers to decipher the frequency of electrical stimulation
	CACNA1S contributes likely to light adaptation by permeating calcium

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with the myoplasmic (N ter) domain of RYR1
	MEF2D is required for the expression of various genes in photoreceptor and bipolar cells, including cone arrestin, GUCA1B, PDE6H and CACNA1S, which encode outer segment and synapse proteins

cell & other

REGULATION

activated by

MRTFA that could activate the transcription CACNA1S by binding to the CarG box in the promoter of CACNA1S

ASSOCIATED DISORDERS

corresponding disease(s)

HOKPP1 , MHS5

Susceptibility

to malignant hyperthermia to fluctuating asymptomatic creatine kinase elevation after rhabdomyolysis

Variant & Polymorphism	a single potentially pathogenic change in CACNA1S (p.Arg174Trp), associated to malignant hyperthermia (Carpenter 2009)
	variant (p.Arg528Leu) associated with fluctuating asymptomatic creatine kinase elevation after rhabdomyolysis

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS