This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
Transcription factors with Perturb-seq knockdown data for KLHL3. 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 = KLHL3 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 KLHL3, 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 |
|---|---|---|---|---|
| chr5:137,498,084–137,499,501 | 236.5 kb | Distal (>10kb) Multiome | 406 | |
| chr5:137,727,661–137,728,011 | 7.8 kb | Proximal (<10kb) | 14 | |
| chr5:137,728,179–137,728,318 | 7.5 kb | Proximal (<10kb) | 14 | |
| chr5:137,735,317–137,736,260 | 132 bp | At TSS Multiome | 301 | |
| chr5:137,737,295–137,737,718 | 1.4 kb | Proximal (<10kb) | 95 | |
| chr5:137,753,755–137,755,355 | 18.8 kb | Distal (>10kb) Multiome | 1048 | |
| chr5:138,032,174–138,033,856 | 297.2 kb | Distal (>10kb) Multiome | 889 | |
| chr5:138,036,018–138,036,514 | 300.3 kb | Distal (>10kb) Multiome | 359 |
Genomic view of the KLHL3 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.