This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negatively regulates the AP-2 family of transcription factors and the Wnt signaling pathway. A mechanism for the modulation of Wnt signaling has been proposed in which the encoded protein enhances ubiquitination and degradation of the beta-catenin protein. Mutations in this gene have been identified in Scalp-ear-nipple (SEN) syndrome. [provided by RefSeq, May 2017]
Transcription factors with Perturb-seq knockdown data for KCTD1. 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 = KCTD1 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 KCTD1, 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 |
|---|---|---|---|---|
| chr18:26,457,727–26,458,252 | 199.3 kb | Distal (>10kb) Multiome | 110 | |
| chr18:26,546,875–26,550,290 | 108.8 kb | Distal (>10kb) Multiome | 641 | |
| chr18:26,550,411–26,551,223 | 106.4 kb | Distal (>10kb) Multiome | 242 | |
| chr18:26,648,070–26,650,001 | 8.2 kb | Proximal (<10kb) Multiome | 408 | |
| chr18:26,650,889–26,651,492 | 6.3 kb | Proximal (<10kb) Multiome | 74 | |
| chr18:26,655,726–26,657,561 | 202 bp | At TSS Multiome | 533 | |
| chr18:26,664,459–26,664,656 | 7.1 kb | Proximal (<10kb) | 8 | |
| chr18:26,709,971–26,711,052 | 53.1 kb | Distal (>10kb) Multiome | 287 | |
| chr18:26,863,119–26,863,780 | 206.0 kb | Distal (>10kb) Multiome | 279 | |
| chr18:26,956,953–26,957,443 | 299.7 kb | Distal (>10kb) Multiome | 152 |
Genomic view of the KCTD1 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.