DHP receptor

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, DHPR
External IDs	MGI: 88294 HomoloGene: 37257 GeneCards: CACNA1S
Gene location (Human) Chr. Chromosome 1 (human) Band No data available Start 201,039,512 bp End 201,112,566 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band No data available Start 136,052,750 bp End 136,119,822 bp
RNA expression pattern More reference expression data
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 • calmodulin binding Cellular component • cytoplasm • voltage-gated calcium channel complex • integral component of membrane • membrane • I band • T-tubule • L-type voltage-gated calcium channel complex • plasma membrane • sarcolemma Biological process • muscle contraction • membrane depolarization during action potential • regulation of ion transmembrane transport • ion transport • cardiac conduction • calcium ion transmembrane transport • transmembrane transport • calcium ion transport • cellular response to caffeine • transport Sources:Amigo / QuickGO
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.

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