MGP Database

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MGP003745

UniProt Annotations

Entry Information
Gene Namecalcium channel, voltage-dependent, T type, alpha 1H subunit
Protein EntryCAC1H_HUMAN
UniProt IDO95180
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; Synonyms=A1H-a; IsoId=O95180-1; Sequence=Displayed; Name=2; Synonyms=A1H-b; IsoId=O95180-2; Sequence=VSP_000949; Note=Ref.4 (CAD12646) sequence is in conflict in position: 1587:K->E. {ECO:0000305};
DiseaseEpilepsy, childhood absence 6 (ECA6) [MIM:611942]: 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. {ECO:0000269|PubMed:12891677}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
DiseaseEpilepsy, idiopathic generalized 6 (EIG6) [MIM:611942]: 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
DomainEach of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
FunctionVoltage-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-1H gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. 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. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes.
PtmIn response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.
Sequence CautionSequence=AAK61268.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAC42094.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1H subfamily. {ECO:0000305}.
Subcellular LocationMembrane; Multi-pass membrane protein.
Tissue SpecificityExpressed in kidney, liver, heart, brain. Isoform 2 seems to be testis-specific.
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