This gene encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids. Activity of this proten is important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Transcription factors with Perturb-seq knockdown data for CTPS1. 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 = CTPS1 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 CTPS1, 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 |
|---|---|---|---|---|
| chr1:40,691,236–40,692,758 | 287.8 kb | Distal (>10kb) Multiome | 1088 | |
| chr1:40,708,827–40,709,450 | 270.5 kb | Distal (>10kb) Multiome | 526 | |
| chr1:40,783,386–40,784,649 | 195.9 kb | Distal (>10kb) Multiome | 448 | |
| chr1:40,802,183–40,803,007 | 177.2 kb | Distal (>10kb) Multiome | 455 | |
| chr1:40,818,171–40,819,026 | 160.9 kb | Distal (>10kb) Multiome | 236 | |
| chr1:40,861,144–40,862,924 | 117.2 kb | Distal (>10kb) Multiome | 724 | |
| chr1:40,863,635–40,864,299 | 115.6 kb | Distal (>10kb) Multiome | 331 | |
| chr1:40,952,369–40,952,943 | 27.1 kb | Distal (>10kb) Multiome | 442 | |
| chr1:40,978,861–40,980,635 | 72 bp | At TSS Multiome | 809 | |
| chr1:41,021,596–41,022,211 | 42.2 kb | Distal (>10kb) Multiome | 181 | |
| chr1:41,150,793–41,151,314 | 171.4 kb | Distal (>10kb) Multiome | 272 | |
| chr1:41,241,300–41,242,832 | 262.5 kb | Distal (>10kb) Multiome | 773 |
Genomic view of the CTPS1 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.