Voltage-dependent L-type calcium channel subunit alpha-1S

UniProt Q13698 Organism Homo sapiens Gene CACH1, CACN1, CACNA1S, CACNL1A3

Also known as: CACH1, CACN1, CACNA1S, CACNL1A3

Function

Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcoplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group.

Classification

Family (Pfam): PF08763 Ca_chan_IQ, PF16905 GPHH, PF00520 Ion_trans
InterPro: GPHH_dom, Ion_trans_dom, VDCC_a1su_IQ, VDCC_alpha-1_subunit, VDCC_L_a1ssu, VDCC_L_a1su, VDCCAlpha1, Volt_channel_dom_sf
Functional cluster: Membrane Transporters & GPCRs

Experimental structures · PDB · 2

2VAY X-ray 1.94A
6B27 X-ray 1.73A

A predicted model is available from AlphaFold.

Gene Ontology · 20

Disease associations

hypokalemic periodic paralysis, type 1 MONDO:0042979
thyrotoxic periodic paralysis, susceptibility to, 1 MONDO:0008570
malignant hyperthermia, susceptibility to, 5 MONDO:0011163
congenital myopathy 18 MONDO:0859514

Drugs targeting this protein · 36

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Sodium channel protein type 4 subunit alpha 2 shared papers
SH3 and cysteine-rich domain-containing protein 2 1 shared papers
SH3 and cysteine-rich domain-containing protein 3 1 shared papers
SH3 and cysteine-rich domain-containing protein 1 shared papers
Voltage-dependent L-type calcium channel subunit alpha-1S 1 shared papers
Voltage-dependent L-type calcium channel subunit alpha-1C 1 shared papers

Literature · 17 cited papers

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. J. Med. Genet. · 2021
Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family. J. Neuromuscul. Dis. · 2019
Structural insights into binding of STAC proteins to voltage-gated calcium channels. Proc. Natl. Acad. Sci. U.S.A. · 2017
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Acta Neuropathol. · 2017
Determinants in CaV1 channels that regulate the Ca2+ sensitivity of bound calmodulin. J. Biol. Chem. · 2009
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. Neurology · 2009
The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis. J. Korean Med. Sci. · 2007
Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family. Neuromuscul. Disord. · 2007
The DNA sequence and biological annotation of human chromosome 1. Nature · 2006
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
Association of novel single nucleotide polymorphisms in the calcium channel alpha 1 subunit gene (Ca(v)1.1) and thyrotoxic periodic paralysis. J. Clin. Endocrinol. Metab. · 2004
Malignant-hyperthermia susceptibility is associated with a mutation of the alpha-1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am. J. Hum. Genet. · 1997
… and 5 more in the literature graph

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