This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011]
Transcription factors with Perturb-seq knockdown data for KAZN. 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 = KAZN 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 KAZN, 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 |
|---|---|---|---|---|
| chr1:14,597,911–14,599,703 | 107 bp | At TSS Multiome | 354 | |
| chr1:14,627,070–14,627,878 | 28.8 kb | Distal (>10kb) Multiome | 165 | |
| chr1:14,682,740–14,683,509 | 84.4 kb | Distal (>10kb) Multiome | 114 | |
| chr1:14,725,670–14,726,892 | 127.2 kb | Distal (>10kb) Multiome | 233 | |
| chr1:14,766,938–14,767,824 | 168.6 kb | Distal (>10kb) Multiome | 128 | |
| chr1:14,782,742–14,783,695 | 184.3 kb | Distal (>10kb) Multiome | 261 |
Genomic view of the KAZN 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.