The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Transcription factors with Perturb-seq knockdown data for MAK. 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 = MAK 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 MAK, 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 |
|---|---|---|---|---|
| chr6:10,555,376–10,556,448 | 282.7 kb | Distal (>10kb) Multiome | 264 | |
| chr6:10,582,607–10,584,703 | 255.5 kb | Distal (>10kb) Multiome | 306 | |
| chr6:10,585,189–10,585,988 | 252.9 kb | Distal (>10kb) Multiome | 131 | |
| chr6:10,659,291–10,660,431 | 178.7 kb | Distal (>10kb) Multiome | 202 | |
| chr6:10,694,307–10,695,190 | 143.8 kb | Distal (>10kb) Multiome | 980 | |
| chr6:10,722,577–10,723,508 | 115.6 kb | Distal (>10kb) Multiome | 960 | |
| chr6:10,747,079–10,748,260 | 90.9 kb | Distal (>10kb) Multiome | 1006 | |
| chr6:10,837,383–10,838,947 | 71 bp | At TSS Multiome | 773 | |
| chr6:10,882,510–10,883,313 | 44.5 kb | Distal (>10kb) Multiome | 144 | |
| chr6:10,886,419–10,887,541 | 48.4 kb | Distal (>10kb) Multiome | 615 | |
| chr6:11,007,370–11,008,733 | 169.5 kb | Distal (>10kb) Multiome | 412 | |
| chr6:11,043,323–11,045,047 | 205.9 kb | Distal (>10kb) Multiome | 766 | |
| chr6:11,093,116–11,094,741 | 255.2 kb | Distal (>10kb) Multiome | 1088 |
Genomic view of the MAK 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.