This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for MCOLN1. 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 = MCOLN1 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 MCOLN1, 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 |
|---|---|---|---|---|
| chr19:7,293,755–7,294,636 | 228.2 kb | Distal (>10kb) Multiome | 668 | |
| chr19:7,394,774–7,395,629 | 127.5 kb | Distal (>10kb) Multiome | 601 | |
| chr19:7,482,657–7,483,489 | 39.5 kb | Distal (>10kb) Multiome | 201 | |
| chr19:7,488,712–7,489,463 | 33.6 kb | Distal (>10kb) Multiome | 542 | |
| chr19:7,500,843–7,501,401 | 21.4 kb | Distal (>10kb) Multiome | 556 | |
| chr19:7,505,850–7,507,270 | 16.1 kb | Distal (>10kb) Multiome | 516 | |
| chr19:7,507,812–7,508,356 | 14.5 kb | Distal (>10kb) Multiome | 168 | |
| chr19:7,512,387–7,512,812 | 9.8 kb | Proximal (<10kb) | 95 | |
| chr19:7,515,778–7,516,198 | 6.4 kb | Proximal (<10kb) | 463 | |
| chr19:7,522,263–7,523,208 | 60 bp | At TSS Multiome | 917 | |
| chr19:7,533,976–7,536,472 | 11.4 kb | Distal (>10kb) Multiome | 882 | |
| chr19:7,550,673–7,551,762 | 28.8 kb | Distal (>10kb) Multiome | 377 | |
| chr19:7,554,651–7,555,821 | 32.7 kb | Distal (>10kb) Multiome | 224 | |
| chr19:7,595,485–7,596,417 | 73.2 kb | Distal (>10kb) Multiome | 405 | |
| chr19:7,629,285–7,629,891 | 107.1 kb | Distal (>10kb) Multiome | 650 | |
| chr19:7,636,753–7,637,571 | 114.5 kb | Distal (>10kb) Multiome | 689 | |
| chr19:7,680,480–7,681,546 | 158.2 kb | Distal (>10kb) Multiome | 679 |
Genomic view of the MCOLN1 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.