This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
Transcription factors with Perturb-seq knockdown data for PLCE1. 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 = PLCE1 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 PLCE1, 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 |
|---|---|---|---|---|
| chr10:93,702,336–93,703,002 | 291.3 kb | Distal (>10kb) Multiome | 1036 | |
| chr10:93,748,844–93,749,704 | 244.6 kb | Distal (>10kb) Multiome | 214 | |
| chr10:93,841,872–93,842,361 | 151.8 kb | Distal (>10kb) Multiome | 102 | |
| chr10:93,893,623–93,894,609 | 99.9 kb | Distal (>10kb) Multiome | 664 | |
| chr10:93,991,748–93,992,209 | 1.7 kb | Proximal (<10kb) | 207 | |
| chr10:93,992,421–93,992,952 | 977 bp | At TSS | 75 | |
| chr10:93,993,307–93,994,580 | 46 bp | At TSS Multiome | 386 | |
| chr10:94,000,689–94,001,333 | 6.8 kb | Proximal (<10kb) | 43 | |
| chr10:94,006,733–94,007,498 | 13.4 kb | Distal (>10kb) Multiome | 178 | |
| chr10:94,105,068–94,105,823 | 111.5 kb | Distal (>10kb) Multiome HiCAR | 100 |
Genomic view of the PLCE1 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.