This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
Transcription factors with Perturb-seq knockdown data for CACNA1C. 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 = CACNA1C 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 CACNA1C, 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 |
|---|---|---|---|---|
| chr12:1,794,646–1,795,302 | 258.1 kb | Distal (>10kb) Multiome | 100 | |
| chr12:1,795,674–1,796,431 | 256.8 kb | Distal (>10kb) Multiome | 643 | |
| chr12:2,003,890–2,004,937 | 48.5 kb | Distal (>10kb) Multiome | 942 | |
| chr12:2,034,959–2,035,597 | 17.8 kb | Distal (>10kb) Multiome | 564 | |
| chr12:2,052,516–2,053,357 | 63 bp | At TSS Multiome | 254 | |
| chr12:2,057,289–2,057,670 | 4.3 kb | Proximal (<10kb) | 159 |
Genomic view of the CACNA1C 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.