The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]
Transcription factors with Perturb-seq knockdown data for CPS1. 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 = CPS1 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 CPS1, 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 |
|---|---|---|---|---|
| chr2:210,181,086–210,182,197 | 296.0 kb | Distal (>10kb) Multiome | 168 | |
| chr2:210,224,566–210,225,799 | 252.5 kb | Distal (>10kb) Multiome | 493 | |
| chr2:210,476,213–210,477,273 | 985 bp | At TSS Multiome | 848 | |
| chr2:210,477,506–210,477,816 | at TSS | At TSS | 248 | |
| chr2:210,752,371–210,753,226 | 275.1 kb | Distal (>10kb) Multiome | 155 | |
| chr2:210,762,435–210,763,699 | 285.4 kb | Distal (>10kb) Multiome | 154 |
Genomic view of the CPS1 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.