Description: Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. RefSeq Summary (NM_021098): 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]. Transcript (Including UTRs) Position: hg19 chr16:1,260,035-1,271,772 Size: 11,738 Total Exon Count: 18 Strand: + Coding Region Position: hg19 chr16:1,260,407-1,270,994 Size: 10,588 Coding Exon Count: 17
ID:H3BUA8_HUMAN DESCRIPTION: SubName: Full=Voltage-dependent T-type calcium channel subunit alpha-1H; Flags: Fragment; CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
childhood absence epilepsy. Chen Y 2003, Association between genetic variation of CACNA1H and childhood absence epilepsy., Annals of neurology. 2003 Aug;54(2):239-43.
[PubMed 12891677]
Our results suggest that CACNA1H might be an important susceptibility gene involved in the pathogenesis of childhood absence epilepsy.
epilepsy Chen, Y. et al. 2003, Association between genetic variation of CACNA1H and childhood absence epilepsy., Annals of neurology. 2003 Aug;54(2):239-43.
[PubMed 12891677]
Our results suggest that CACNA1H might be an important susceptibility gene involved in the pathogenesis of childhood absence epilepsy.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on H3BUA8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
