This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
Transcription factors with Perturb-seq knockdown data for NEDD4L. 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 = NEDD4L 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 NEDD4L, 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 |
|---|---|---|---|---|
| chr18:57,797,314–57,797,787 | 246.7 kb | Distal (>10kb) Multiome | 429 | |
| chr18:57,802,264–57,804,080 | 240.8 kb | Distal (>10kb) Multiome | 584 | |
| chr18:57,856,110–57,857,036 | 187.6 kb | Distal (>10kb) Multiome | 51 | |
| chr18:58,043,399–58,045,466 | 204 bp | At TSS Multiome | 759 | |
| chr18:58,045,535–58,046,391 | 1.3 kb | Proximal (<10kb) | 362 | |
| chr18:58,114,710–58,115,173 | 70.8 kb | Distal (>10kb) Multiome HiCAR | 24 | |
| chr18:58,135,854–58,136,599 | 91.9 kb | Distal (>10kb) Multiome | 312 | |
| chr18:58,193,786–58,194,631 | 150.1 kb | Distal (>10kb) Multiome | 134 | |
| chr18:58,195,180–58,195,741 | at TSS | At TSS | 137 | |
| chr18:58,216,188–58,216,452 | 5.1 kb | Proximal (<10kb) | 109 | |
| chr18:58,339,057–58,339,533 | 295.0 kb | Distal (>10kb) Multiome HiCAR | 158 | |
| chr18:58,424,566–58,425,218 | 380.8 kb | Distal (>10kb) Multiome | 69 | |
| chr18:58,511,990–58,512,628 | 468.1 kb | Distal (>10kb) Multiome | 126 |
Genomic view of the NEDD4L 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.