The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Transcription factors with Perturb-seq knockdown data for PCNT. 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 = PCNT 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 PCNT, 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 |
|---|---|---|---|---|
| chr21:44,338,994–44,339,895 | 1984.8 kb | Distal (>10kb) Multiome HiCAR | 904 | |
| chr21:46,097,574–46,098,972 | 226.0 kb | Distal (>10kb) Multiome | 294 | |
| chr21:46,153,138–46,153,696 | 170.7 kb | Distal (>10kb) Multiome | 515 | |
| chr21:46,184,645–46,185,202 | 139.4 kb | Distal (>10kb) Multiome | 334 | |
| chr21:46,228,249–46,230,022 | 95.1 kb | Distal (>10kb) Multiome | 833 | |
| chr21:46,285,753–46,286,753 | 37.7 kb | Distal (>10kb) Multiome | 983 | |
| chr21:46,323,408–46,325,506 | 86 bp | At TSS Multiome | 952 | |
| chr21:46,457,952–46,459,810 | 134.7 kb | Distal (>10kb) Multiome | 880 |
Genomic view of the PCNT 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.