This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]
Transcription factors with Perturb-seq knockdown data for CERS1. 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 = CERS1 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 CERS1, 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 |
|---|---|---|---|---|
| chr19:18,571,234–18,572,258 | 324.4 kb | Distal (>10kb) Multiome HiCAR | 972 | |
| chr19:18,611,391–18,612,134 | 284.4 kb | Distal (>10kb) Multiome | 340 | |
| chr19:18,635,894–18,637,555 | 259.5 kb | Distal (>10kb) Multiome | 617 | |
| chr19:18,682,925–18,684,360 | 212.5 kb | Distal (>10kb) Multiome | 701 | |
| chr19:18,785,146–18,785,600 | 110.8 kb | Distal (>10kb) Multiome | 247 | |
| chr19:18,831,386–18,833,070 | 64.3 kb | Distal (>10kb) Multiome | 833 | |
| chr19:18,870,063–18,870,526 | 25.7 kb | Distal (>10kb) Multiome | 148 | |
| chr19:18,895,036–18,896,591 | 4 bp | At TSS Multiome | 554 | |
| chr19:18,918,971–18,919,972 | 23.4 kb | Distal (>10kb) Multiome HiCAR | 828 | |
| chr19:18,932,038–18,933,012 | 36.4 kb | Distal (>10kb) Multiome | 312 | |
| chr19:18,940,835–18,941,417 | 45.1 kb | Distal (>10kb) Multiome | 336 | |
| chr19:19,017,061–19,017,561 | 121.1 kb | Distal (>10kb) Multiome | 21 | |
| chr19:19,032,820–19,034,059 | 137.5 kb | Distal (>10kb) Multiome | 944 | |
| chr19:19,063,253–19,064,386 | 167.6 kb | Distal (>10kb) Multiome | 781 | |
| chr19:19,105,310–19,106,514 | 209.6 kb | Distal (>10kb) Multiome | 447 | |
| chr19:19,110,429–19,110,857 | 214.5 kb | Distal (>10kb) Multiome | 131 | |
| chr19:19,119,998–19,121,362 | 224.4 kb | Distal (>10kb) Multiome | 304 | |
| chr19:19,138,171–19,138,698 | 242.3 kb | Distal (>10kb) Multiome | 642 | |
| chr19:19,170,055–19,170,692 | 274.2 kb | Distal (>10kb) Multiome | 403 | |
| chr19:19,191,912–19,193,209 | 296.4 kb | Distal (>10kb) Multiome | 939 |
Genomic view of the CERS1 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.