The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]
Transcription factors with Perturb-seq knockdown data for KNL1. 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 = KNL1 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 KNL1, 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 |
|---|---|---|---|---|
| chr15:40,323,099–40,324,127 | 270.8 kb | Distal (>10kb) Multiome | 737 | |
| chr15:40,357,707–40,358,772 | 236.0 kb | Distal (>10kb) Multiome | 515 | |
| chr15:40,367,875–40,368,398 | 226.1 kb | Distal (>10kb) Multiome | 846 | |
| chr15:40,405,523–40,406,103 | 188.5 kb | Distal (>10kb) Multiome | 672 | |
| chr15:40,440,664–40,441,222 | 153.3 kb | Distal (>10kb) Multiome | 440 | |
| chr15:40,470,654–40,471,315 | 123.3 kb | Distal (>10kb) Multiome | 463 | |
| chr15:40,511,458–40,512,083 | 82.5 kb | Distal (>10kb) Multiome | 646 | |
| chr15:40,593,777–40,594,776 | 162 bp | At TSS Multiome | 899 | |
| chr15:40,694,639–40,695,262 | 100.8 kb | Distal (>10kb) Multiome | 831 | |
| chr15:40,754,834–40,755,729 | 161.1 kb | Distal (>10kb) Multiome | 816 | |
| chr15:40,763,848–40,764,563 | 169.8 kb | Distal (>10kb) Multiome | 799 | |
| chr15:40,806,990–40,807,956 | 213.3 kb | Distal (>10kb) Multiome | 782 | |
| chr15:40,843,756–40,844,502 | 249.9 kb | Distal (>10kb) Multiome | 364 | |
| chr15:40,873,588–40,874,396 | 279.7 kb | Distal (>10kb) Multiome | 556 | |
| chr15:40,893,927–40,894,547 | 300.1 kb | Distal (>10kb) Multiome | 741 |
Genomic view of the KNL1 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.