This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2023]
Transcription factors with Perturb-seq knockdown data for MKKS. 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 = MKKS 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 MKKS, 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 |
|---|---|---|---|---|
| chr20:10,217,180–10,219,942 | 215.5 kb | Distal (>10kb) Multiome | 1107 | |
| chr20:10,412,635–10,413,529 | 21.0 kb | Distal (>10kb) Multiome | 215 | |
| chr20:10,433,347–10,435,565 | 1.0 kb | Proximal (<10kb) Multiome | 1181 | |
| chr20:10,637,187–10,638,013 | 203.5 kb | Distal (>10kb) Multiome | 259 | |
| chr20:10,671,398–10,673,077 | 237.6 kb | Distal (>10kb) Multiome | 949 | |
| chr20:10,673,196–10,675,289 | 239.9 kb | Distal (>10kb) Multiome | 1034 |
Genomic view of the MKKS 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.