Cav1.1

CACNA1S
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2VAY
Identifiers
Aliases	CACNA1S, CACNL1A3, CCHL1A3, Cav1.1, HOKPP, HOKPP1, MHS5, TTPP1, hypoPP, calcium voltage-gated channel subunit alpha1 S
External IDs	MGI: 88294 HomoloGene: 37257 GeneCards: CACNA1S
Targeted by Drug
diltiazem, verapamil, nifedipine
Gene ontology Molecular function • voltage-gated calcium channel activity • calcium channel activity • metal ion binding • voltage-gated ion channel activity • high voltage-gated calcium channel activity • ion channel activity • protein binding Cellular component • cytoplasm • voltage-gated calcium channel complex • integral component of membrane • membrane • I band • T-tubule • plasma membrane Biological process • muscle contraction • membrane depolarization during action potential • regulation of ion transmembrane transport • ion transport • cardiac conduction • calcium ion transmembrane transport • transmembrane transport • transport • calcium ion transport Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	779	12292
Ensembl	ENSG00000081248	ENSMUSG00000026407
UniProt	Q13698	Q02789
RefSeq (mRNA)	NM_000069	NM_001081023 NM_014193
RefSeq (protein)	NP_000060	n/a
Location (UCSC)	Chr 1: 201.04 – 201.11 Mb	Chr 1: 136.05 – 136.12 Mb
PubMed search

2VAY

779

12292

ENSG00000081248

ENSMUSG00000026407

Q13698

Q02789

NM_000069

NM_001081023
NM_014193

NP_000060

n/a

Ca_v1.1 also known as the calcium channel, voltage-dependent, L type, alpha 1S subunit, (CACNA1S), is a protein which in humans is encoded by the CACNA1S gene. It is also known as CACNL1A3 and the dihydropyridine receptor (DHPR, so named due to the blocking action DHP has on it).

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.

Ca_v1.1 is a voltage-dependent calcium channel found in the transverse tubule of muscles. In skeletal muscle it associates with the ryanodine receptor RyR1 of the sarcoplasmic reticulum via a mechanical linkage. It senses the voltage change caused by the end-plate potential from nervous stimulation and propagated by sodium channels as action potentials to the T-tubules. It was previously thought that when the muscle depolarises, the calcium channel opens, allowing calcium in and activating RyR1, which mediates much greater calcium release from the sarcoplasmic reticulum. This is the first part of the process of excitation-contraction coupling, which ultimately causes the muscle to contract. Recent findings suggest that in skeletal muscle (but not heart muscle), calcium entry through Cav1.1 is not required; Cav1.1 undergoes a conformational change which allosterically activates RyR1.

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Wikipedia