The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for PPHLN1. 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 = PPHLN1 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 PPHLN1, 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 |
|---|---|---|---|---|
| chr12:40,692,027–40,693,873 | 1633.8 kb | Distal (>10kb) Multiome HiCAR | 487 | |
| chr12:40,745,253–40,745,981 | 1580.6 kb | Distal (>10kb) Multiome HiCAR | 73 | |
| chr12:42,144,190–42,146,161 | 181.3 kb | Distal (>10kb) Multiome HiCAR | 923 | |
| chr12:42,237,254–42,239,022 | 88.6 kb | Distal (>10kb) Multiome | 833 | |
| chr12:42,325,595–42,326,457 | 133 bp | At TSS Multiome | 748 | |
| chr12:42,482,483–42,484,824 | 158.0 kb | Distal (>10kb) Multiome | 761 | |
| chr12:42,588,923–42,590,912 | 263.6 kb | Distal (>10kb) Multiome | 540 |
Genomic view of the PPHLN1 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.