The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]
Transcription factors with Perturb-seq knockdown data for KANK1. 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 = KANK1 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 KANK1, 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 |
|---|---|---|---|---|
| chr9:214,473–215,549 | 255.3 kb | Distal (>10kb) Multiome | 678 | |
| chr9:222,426–223,483 | 247.7 kb | Distal (>10kb) Multiome | 174 | |
| chr9:259,527–260,467 | 210.3 kb | Distal (>10kb) Multiome | 194 | |
| chr9:346,260–346,845 | 123.8 kb | Distal (>10kb) Multiome | 154 | |
| chr9:469,614–470,747 | 110 bp | At TSS Multiome | 716 | |
| chr9:503,864–505,731 | 34.3 kb | Distal (>10kb) Multiome | 741 | |
| chr9:549,543–550,780 | 80.1 kb | Distal (>10kb) Multiome | 104 | |
| chr9:674,091–674,587 | 204.0 kb | Distal (>10kb) Multiome | 250 | |
| chr9:682,663–683,204 | 212.6 kb | Distal (>10kb) Multiome | 504 | |
| chr9:690,516–691,251 | 220.6 kb | Distal (>10kb) Multiome | 16 | |
| chr9:706,703–707,479 | 236.8 kb | Distal (>10kb) Multiome | 452 | |
| chr9:727,859–728,508 | 257.8 kb | Distal (>10kb) Multiome | 95 |
Genomic view of the KANK1 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.