CACNA1H

This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]

Calcium Voltage-Gated Channel Subunit Alpha1 H

Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a voltage-dependent inactivation (PubMed:9670923, PubMed:9930755, PubMed:27149520).
T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle (Probable). They may also be involved in the modulation of firing patterns of neurons (PubMed:15048902).
In the adrenal zona glomerulosa, participates in the signaling pathway leading to aldosterone production in response to either AGT/angiotensin II, or hyperkalemia (PubMed:25907736, PubMed:27729216).

Aldosterone biosynthetic process Source: UniProtKB
Calcium ion import Source: BHF-UCL
Cellular response to hormone stimulus Source: UniProtKB
Cellular response to potassium ion Source: UniProtKB
Cortisol biosynthetic process Source: UniProtKB
Inorganic cation transmembrane transport Source: UniProtKB
Membrane depolarization during action potential Source: GO_Central
Muscle contraction Source: ProtInc
Muscle organ development Source: ProtInc
Myoblast fusion Source: ProtInc
Neuronal action potential Source: GO_Central
Positive regulation of acrosome reaction Source: UniProtKB
Positive regulation of calcium ion-dependent exocytosis Source: GO_Central
Regulation of heart contraction Source: ProtInc
Regulation of ion transmembrane transport Source: UniProtKB-KW
Regulation of membrane potential Source: BHF-UCL

Cell membrane. Interaction with STAC increases expression at the cell membrane.

Epilepsy, idiopathic generalized 6 (EIG6): A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.
Epilepsy, childhood absence 6 (ECA6): A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood.
Hyperaldosteronism, familial, 4 (HALD4): A form of familial hyperaldosteronism, a disorder characterized by hypertension, elevated aldosterone levels despite low plasma renin activity, and abnormal adrenal steroid production. There is significant phenotypic heterogeneity, and some individuals never develop hypertension.

Cytoplasmic: 1-100 aa
Helical: 101-119 aa
Extracellular: 120-141 aa
Helical: 142-160 aa
Cytoplasmic: 161-169 aa
Helical: 170-184 aa
Extracellular: 185-193 aa
Helical: 194-212 aa
Cytoplasmic: 213-232 aa
Helical: 233-253 aa
Extracellular: 254-394 aa
Helical: 395-419 aa
Cytoplasmic: 420-793 aa
Helical: 794-814 aa
Extracellular: 815-827 aa
Helical: 828-849 aa
Cytoplasmic: 850-855 aa
Helical: 856-874 aa
Extracellular: 875-882 aa
Helical: 883-906 aa
Cytoplasmic: 907-917 aa
Helical: 918-938 aa
Extracellular: 939-990 aa
Helical: 991-1015 aa
Cytoplasmic: 1016-1290 aa
Helical: 1291-1313 aa
Extracellular: 1314-1331 aa
Helical: 1332-1352 aa
Cytoplasmic: 1353-1362 aa
Helical: 1363-1382 aa
Extracellular: 1383-1396 aa
Helical: 1397-1418 aa
Cytoplasmic: 1419-1428 aa
Helical: 1429-1452 aa
Extracellular: 1453-1529 aa
Helical: 1530-1555 aa
Cytoplasmic: 1556-1616 aa
Helical: 1617-1637 aa
Extracellular: 1638-1651 aa
Helical: 1652-1673 aa
Cytoplasmic: 1674-1680 aa
Helical: 1681-1699 aa
Extracellular: 1700-1713 aa
Helical: 1714-1737 aa
Cytoplasmic: 1738-1751 aa
Helical: 1752-1772 aa
Extracellular: 1773-1835 aa
Helical: 1836-1863 aa
Cytoplasmic: 1864-2353 aa

In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.