The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]
Transcription factors with Perturb-seq knockdown data for KLHL24. 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 = KLHL24 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 KLHL24, 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 |
|---|---|---|---|---|
| chr3:183,428,041–183,429,327 | 206.8 kb | Distal (>10kb) Multiome | 572 | |
| chr3:183,433,737–183,435,984 | 201.1 kb | Distal (>10kb) Multiome | 282 | |
| chr3:183,447,193–183,447,991 | 188.1 kb | Distal (>10kb) Multiome | 926 | |
| chr3:183,544,658–183,545,145 | 90.7 kb | Distal (>10kb) Multiome | 164 | |
| chr3:183,635,238–183,637,215 | 118 bp | At TSS Multiome | 923 | |
| chr3:183,697,518–183,698,578 | 62.3 kb | Distal (>10kb) Multiome | 787 | |
| chr3:183,824,588–183,826,123 | 190.0 kb | Distal (>10kb) Multiome | 467 | |
| chr3:183,883,494–183,884,017 | 248.0 kb | Distal (>10kb) Multiome | 83 | |
| chr3:183,884,110–183,885,311 | 249.3 kb | Distal (>10kb) Multiome | 972 | |
| chr3:183,912,940–183,913,709 | 277.6 kb | Distal (>10kb) Multiome | 225 |
Genomic view of the KLHL24 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.