This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
Transcription factors with Perturb-seq knockdown data for ITPA. 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 = ITPA 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 ITPA, 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 |
|---|---|---|---|---|
| chr20:3,045,415–3,046,996 | 163.6 kb | Distal (>10kb) Multiome | 999 | |
| chr20:3,071,569–3,072,466 | 137.3 kb | Distal (>10kb) Multiome | 214 | |
| chr20:3,092,619–3,093,442 | 116.4 kb | Distal (>10kb) Multiome | 180 | |
| chr20:3,159,566–3,160,153 | 49.6 kb | Distal (>10kb) Multiome | 1027 | |
| chr20:3,168,012–3,168,864 | 41.1 kb | Distal (>10kb) Multiome | 598 | |
| chr20:3,172,885–3,174,573 | 35.9 kb | Distal (>10kb) Multiome | 1012 | |
| chr20:3,203,485–3,204,801 | 5.0 kb | Proximal (<10kb) Multiome | 952 | |
| chr20:3,209,168–3,209,760 | at TSS | At TSS | 782 | |
| chr20:3,218,394–3,218,992 | 9.2 kb | Proximal (<10kb) Multiome | 638 | |
| chr20:3,238,062–3,240,422 | 29.9 kb | Distal (>10kb) Multiome | 714 | |
| chr20:3,407,081–3,408,415 | 198.3 kb | Distal (>10kb) Multiome | 825 | |
| chr20:3,408,525–3,409,169 | 199.5 kb | Distal (>10kb) Multiome | 453 | |
| chr20:3,470,330–3,471,668 | 261.5 kb | Distal (>10kb) Multiome | 975 |
Genomic view of the ITPA 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.