This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
Transcription factors with Perturb-seq knockdown data for PRPS1. 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 = PRPS1 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 PRPS1, 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 |
|---|---|---|---|---|
| chrX:107,355,186–107,356,118 | 272.8 kb | Distal (>10kb) Multiome | 63 | |
| chrX:107,628,178–107,629,161 | 61 bp | At TSS Multiome | 409 | |
| chrX:107,654,846–107,655,657 | 26.8 kb | Distal (>10kb) Multiome | 393 | |
| chrX:107,731,822–107,732,545 | 103.7 kb | Distal (>10kb) Multiome | 347 | |
| chrX:107,736,604–107,737,564 | 108.6 kb | Distal (>10kb) Multiome | 303 | |
| chrX:107,825,723–107,827,075 | 197.9 kb | Distal (>10kb) Multiome | 369 |
Genomic view of the PRPS1 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.