The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012]
Transcription factors with Perturb-seq knockdown data for PNPT1. 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 = PNPT1 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 PNPT1, 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 |
|---|---|---|---|---|
| chr2:55,418,822–55,420,474 | 273.9 kb | Distal (>10kb) Multiome | 1181 | |
| chr2:55,518,709–55,520,527 | 174.3 kb | Distal (>10kb) Multiome | 882 | |
| chr2:55,616,515–55,618,979 | 76.1 kb | Distal (>10kb) Multiome | 1070 | |
| chr2:55,655,290–55,655,957 | 38.3 kb | Distal (>10kb) Multiome | 99 | |
| chr2:55,693,163–55,694,032 | 17 bp | At TSS Multiome | 875 | |
| chr2:55,699,337–55,700,608 | 5.5 kb | Proximal (<10kb) | 115 | |
| chr2:55,836,798–55,837,541 | 143.4 kb | Distal (>10kb) Multiome | 153 | |
| chr2:55,922,305–55,924,201 | 230.0 kb | Distal (>10kb) Multiome | 491 |
Genomic view of the PNPT1 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.