This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for PNP. 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 = PNP 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 PNP, 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 |
|---|---|---|---|---|
| chr14:20,332,742–20,333,665 | 136.2 kb | Distal (>10kb) Multiome | 694 | |
| chr14:20,342,187–20,344,100 | 126.1 kb | Distal (>10kb) Multiome | 1112 | |
| chr14:20,412,688–20,413,758 | 56.1 kb | Distal (>10kb) Multiome | 865 | |
| chr14:20,454,384–20,455,825 | 14.3 kb | Distal (>10kb) Multiome | 1012 | |
| chr14:20,460,777–20,462,259 | 7.7 kb | Proximal (<10kb) Multiome | 995 | |
| chr14:20,468,846–20,470,856 | 6 bp | At TSS Multiome | 950 | |
| chr14:20,477,684–20,477,874 | 8.3 kb | Proximal (<10kb) | 250 | |
| chr14:20,494,584–20,495,486 | 25.6 kb | Distal (>10kb) Multiome | 201 | |
| chr14:20,609,147–20,610,547 | 140.7 kb | Distal (>10kb) Multiome HiCAR | 852 | |
| chr14:20,612,915–20,614,464 | 144.3 kb | Distal (>10kb) Multiome | 1003 | |
| chr14:20,624,684–20,626,122 | 156.0 kb | Distal (>10kb) Multiome | 728 | |
| chr14:20,630,325–20,631,286 | 161.3 kb | Distal (>10kb) Multiome | 507 | |
| chr14:20,631,700–20,633,862 | 163.8 kb | Distal (>10kb) Multiome | 757 | |
| chr14:20,642,696–20,643,499 | 173.6 kb | Distal (>10kb) Multiome | 52 | |
| chr14:20,644,459–20,645,301 | 175.4 kb | Distal (>10kb) Multiome | 52 | |
| chr14:20,652,905–20,654,391 | 184.0 kb | Distal (>10kb) Multiome | 320 | |
| chr14:20,657,425–20,658,132 | 188.4 kb | Distal (>10kb) Multiome | 320 | |
| chr14:20,662,835–20,663,940 | 193.9 kb | Distal (>10kb) Multiome | 587 | |
| chr14:20,681,216–20,685,294 | 215.0 kb | Distal (>10kb) Multiome | 1181 | |
| chr14:20,705,982–20,707,066 | 237.0 kb | Distal (>10kb) Multiome | 110 | |
| chr14:20,732,350–20,732,945 | 263.2 kb | Distal (>10kb) Multiome | 51 |
Genomic view of the PNP 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.