This gene encodes an enzyme that has E2-dependent E3 ubiquitin-protein ligase activity. This enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with the E2 ubiquitin-conjugating enzyme UbcH5B. This gene is located in an area of chromosome X where several X-linked cognitive disability disorders have been associated, and it has also been found as part of a contiguous gene deletion associated with craniofrontonasal syndrome, though a direct link to any disorder has yet to be demonstrated. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Transcription factors with Perturb-seq knockdown data for PJA1. 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 = PJA1 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 PJA1, 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:69,107,160–69,107,846 | 57.9 kb | Distal (>10kb) Multiome | 219 | |
| chrX:69,149,870–69,150,988 | 15.3 kb | Distal (>10kb) Multiome | 229 | |
| chrX:69,164,511–69,164,721 | 731 bp | At TSS | 83 | |
| chrX:69,165,380–69,165,624 | at TSS | At TSS | 375 | |
| chrX:69,222,159–69,222,593 | 57.0 kb | Distal (>10kb) Multiome | 178 | |
| chrX:69,277,773–69,278,348 | 112.6 kb | Distal (>10kb) Multiome | 52 | |
| chrX:69,305,681–69,306,164 | 140.5 kb | Distal (>10kb) Multiome | 88 | |
| chrX:69,429,282–69,430,087 | 264.2 kb | Distal (>10kb) Multiome | 57 |
Genomic view of the PJA1 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.