CACNA1D

Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Full Name

Calcium Voltage-Gated Channel Subunit Alpha1 D

Function

Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines.

Biological Process

Adenylate cyclase-modulating G protein-coupled receptor signaling pathway Source: BHF-UCL
Calcium ion import Source: BHF-UCL
Calcium ion transmembrane transport Source: BHF-UCL
Calcium ion transport Source: UniProtKB
Cardiac muscle cell action potential involved in contraction Source: BHF-UCL
Membrane depolarization during cardiac muscle cell action potential Source: BHF-UCL
Membrane depolarization during SA node cell action potential Source: BHF-UCL
Positive regulation of adenylate cyclase activity Source: UniProtKB
Positive regulation of calcium ion transport Source: BHF-UCL
Regulation of atrial cardiac muscle cell membrane repolarization Source: BHF-UCL
Regulation of heart rate by cardiac conduction Source: BHF-UCL
Regulation of insulin secretion Source: Reactome
Regulation of potassium ion transmembrane transport Source: BHF-UCL
Regulation of potassium ion transmembrane transporter activity Source: BHF-UCL
Sensory perception of sound Source: BHF-UCL

Cellular Location

Membrane

Involvement in disease

Sinoatrial node dysfunction and deafness (SANDD): A disease characterized by congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia.
Primary aldosteronism, seizures, and neurologic abnormalities (PASNA): A disorder characterized by hypertension, hypokalemia, and high aldosterone levels with low plasma renin activity and an elevated aldosterone/renin ratio. Other features include generalized seizures, cerebral palsy, spasticity, intellectual disability, and developmental delay.

Topology

Cytoplasmic: 1-126 aa
Helical: 127-145 aa
Extracellular: 146-163 aa
Helical: 164-183 aa
Cytoplasmic: 184-195 aa
Helical: 196-214 aa
Extracellular: 215-235 aa
Helical: 236-254 aa
Cytoplasmic: 255-273 aa
Helical: 274-293 aa
Extracellular: 294-381 aa
Helical: 382-406 aa
Cytoplasmic: 407-523 aa
Helical: 524-543 aa
Extracellular: 544-558 aa
Helical: 559-577 aa
Cytoplasmic: 578-585 aa
Helical: 586-604 aa
Extracellular: 605-614 aa
Helical: 615-633 aa
Cytoplasmic: 634-652 aa
Helical: 653-673 aa
Extracellular: 674-727 aa
Helical: 728-752 aa
Cytoplasmic: 753-886 aa
Helical: 887-905 aa
Extracellular: 906-921 aa
Helical: 922-941 aa
Cytoplasmic: 942-953 aa
Helical: 954-972 aa
Extracellular: 973-978 aa
Helical: 979-998 aa
Cytoplasmic: 999-1017 aa
Helical: 1018-1037 aa
Extracellular: 1038-1127 aa
Helical: 1128-1148 aa
Cytoplasmic: 1149-1205 aa
Helical: 1206-1224 aa
Extracellular: 1225-1239 aa
Helical: 1240-1259 aa
Cytoplasmic: 1260-1266 aa
Helical: 1267-1288 aa
Extracellular: 1289-1313 aa
Helical: 1314-1333 aa
Cytoplasmic: 1334-1352 aa
Helical: 1353-1372 aa
Extracellular: 1373-1439 aa
Helical: 1440-1464 aa
Cytoplasmic: 1465-2161 aa