CACNA1C

This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]

Calcium Voltage-Gated Channel Subunit Alpha1 C

Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8392192, PubMed:7737988, PubMed:9087614, PubMed:9013606, PubMed:9607315, PubMed:12176756, PubMed:17071743, PubMed:11741969, PubMed:8099908, PubMed:12181424, PubMed:29078335, PubMed:29742403, PubMed:16299511, PubMed:20953164, PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506, PubMed:27218670, PubMed:23677916).
Mediates influx of calcium ions into the cytoplasm, and thereby triggers calcium release from the sarcoplasm (By similarity).
Plays an important role in excitation-contraction coupling in the heart. Required for normal heart development and normal regulation of heart rhythm (PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506).
Required for normal contraction of smooth muscle cells in blood vessels and in the intestine. Essential for normal blood pressure regulation via its role in the contraction of arterial smooth muscle cells (PubMed:28119464).
Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group (Probable).
(Microbial infection) Acts as a receptor for Influenzavirus (PubMed:29779930).
May play a critical role in allowing virus entry when sialylated and expressed on lung tissues (PubMed:29779930).

Calcium ion import Source: GO_Central
Calcium ion transmembrane transport Source: BHF-UCL
Calcium ion transmembrane transport via high voltage-gated calcium channel Source: BHF-UCL
Calcium ion transport Source: GO_Central
Calcium ion transport into cytosol Source: UniProtKB
Calcium-mediated signaling using extracellular calcium source Source: BHF-UCL
Camera-type eye development Source: BHF-UCL
Cardiac conduction Source: UniProtKB
Cardiac muscle cell action potential involved in contraction Source: BHF-UCL
Cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
Embryonic forelimb morphogenesis Source: BHF-UCL
Heart development Source: BHF-UCL
Immune system development Source: BHF-UCL
Membrane depolarization during atrial cardiac muscle cell action potential Source: BHF-UCL
Membrane depolarization during AV node cell action potential Source: BHF-UCL
Membrane depolarization during cardiac muscle cell action potential Source: BHF-UCL
Positive regulation of adenylate cyclase activity Source: UniProtKB
Positive regulation of cytosolic calcium ion concentration Source: UniProtKB
Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion Source: UniProtKB
Regulation of heart rate by cardiac conduction Source: BHF-UCL
Regulation of insulin secretion Source: Reactome
Regulation of ventricular cardiac muscle cell action potential Source: BHF-UCL
Viral process Source: UniProtKB-KW

Cell membrane; Sarcolemma; Postsynaptic density membrane; T-tubule; Perikaryon; Dendrite. Colocalizes with ryanodine receptors in distinct clusters at the junctional membrane, where the sarcolemma and the sarcoplasmic reticulum are in close contact. The interaction between RRAD and CACNB2 promotes the expression of CACNA1C at the cell membrane.

Timothy syndrome (TS): Disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism.
Brugada syndrome 3 (BRGDA3): A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.
Long QT syndrome 8 (LQT8): A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. LQT8 transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance.

Cytoplasmic: 1-124 aa
Helical: 125-143 aa
Extracellular: 144-158 aa
Helical: 159-179 aa
Cytoplasmic: 180-188 aa
Helical: 189-209 aa
Extracellular: 210-232 aa
Helical: 233-251 aa
Cytoplasmic: 252-268 aa
Helical: 269-290 aa
Extracellular: 291-350 aa
Pore-forming: 351-372 aa
Extracellular: 373-380 aa
Helical: 381-401 aa
Cytoplasmic: 402-524 aa
Helical: 525-543 aa
Extracellular: 544-554 aa
Helical: 555-575 aa
Cytoplasmic: 576-586 aa
Helical: 587-606 aa
Extracellular: 607-615 aa
Helical: 616-634 aa
Cytoplasmic: 635-653 aa
Helical: 654-673 aa
Extracellular: 674-693 aa
Pore-forming: 694-715 aa
Extracellular: 716-725 aa
Helical: 726-745 aa
Cytoplasmic: 746-900 aa
Helical: 901-919 aa
Extracellular: 920-931 aa
Helical: 932-952 aa
Cytoplasmic: 953-987 aa
Helical: 988-1006 aa
Extracellular: 1007-1013 aa
Helical: 1014-1032 aa
Cytoplasmic: 1033-1051 aa
Helical: 1052-1071 aa
Extracellular: 1072-1121 aa
Pore-forming: 1122-1142 aa
Extracellular: 1143-1159 aa
Helical: 1160-1181 aa
Cytoplasmic: 1182-1239 aa
Helical: 1240-1261 aa
Extracellular: 1262-1269 aa
Helical: 1270-1291 aa
Cytoplasmic: 1292-1301 aa
Helical: 1302-1321 aa
Extracellular: 1322-1372 aa
Helical: 1373-1391 aa
Cytoplasmic: 1392-1409 aa
Helical: 1410-1430 aa
Extracellular: 1431-1452 aa
Pore-forming: 1453-1471 aa
Extracellular: 1472-1499 aa
Helical: 1500-1524 aa
Cytoplasmic: 1525-2221 aa

Phosphorylation by PKA at Ser-1981 activates the channel. Elevated levels of blood glucose lead to increased phosphorylation by PKA.