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]
Transcription factors with Perturb-seq knockdown data for CACNA1H. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = CACNA1H upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of CACNA1H, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr16:970,016–971,733 | 182.1 kb | Distal (>10kb) Multiome | 800 | |
| chr16:980,014–982,920 | 171.7 kb | Distal (>10kb) Multiome | 499 | |
| chr16:1,048,353–1,048,991 | 104.5 kb | Distal (>10kb) Multiome | 220 | |
| chr16:1,088,257–1,088,904 | 64.5 kb | Distal (>10kb) Multiome | 201 | |
| chr16:1,102,896–1,103,532 | 50.0 kb | Distal (>10kb) Multiome | 331 | |
| chr16:1,152,124–1,154,512 | 179 bp | At TSS Multiome | 341 | |
| chr16:1,300,823–1,301,358 | 148.0 kb | Distal (>10kb) Multiome | 419 | |
| chr16:1,308,686–1,309,923 | 156.1 kb | Distal (>10kb) Multiome | 953 | |
| chr16:1,331,603–1,332,817 | 178.9 kb | Distal (>10kb) Multiome | 492 | |
| chr16:1,333,312–1,334,056 | 180.5 kb | Distal (>10kb) Multiome | 271 | |
| chr16:1,342,604–1,343,805 | 190.1 kb | Distal (>10kb) Multiome | 560 | |
| chr16:1,351,418–1,352,242 | 198.8 kb | Distal (>10kb) Multiome | 733 | |
| chr16:1,378,844–1,380,439 | 226.7 kb | Distal (>10kb) Multiome | 782 | |
| chr16:1,408,010–1,408,819 | 255.2 kb | Distal (>10kb) Multiome | 546 | |
| chr16:1,413,643–1,415,278 | 261.7 kb | Distal (>10kb) Multiome | 661 | |
| chr16:1,420,269–1,421,402 | 267.8 kb | Distal (>10kb) Multiome | 897 |
Genomic view of the CACNA1H locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.