This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]
Transcription factors with Perturb-seq knockdown data for ALPL. 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 = ALPL 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 ALPL, 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 |
|---|---|---|---|---|
| chr1:21,289,691–21,290,756 | 219.4 kb | Distal (>10kb) Multiome | 389 | |
| chr1:21,344,857–21,346,026 | 163.8 kb | Distal (>10kb) Multiome | 850 | |
| chr1:21,436,521–21,437,523 | 72.4 kb | Distal (>10kb) Multiome | 100 | |
| chr1:21,439,762–21,440,452 | 69.3 kb | Distal (>10kb) Multiome | 454 | |
| chr1:21,490,894–21,491,460 | 18.4 kb | Distal (>10kb) Multiome | 154 | |
| chr1:21,491,962–21,492,562 | 17.1 kb | Distal (>10kb) Multiome | 116 | |
| chr1:21,497,823–21,498,256 | 11.3 kb | Distal (>10kb) Multiome | 85 | |
| chr1:21,508,855–21,510,512 | 1.0 kb | Proximal (<10kb) Multiome | 399 | |
| chr1:21,607,576–21,608,530 | 98.6 kb | Distal (>10kb) Multiome | 338 | |
| chr1:21,621,983–21,623,132 | 113.1 kb | Distal (>10kb) Multiome | 228 | |
| chr1:21,638,784–21,640,464 | 130.4 kb | Distal (>10kb) Multiome | 542 | |
| chr1:21,651,625–21,652,424 | 142.5 kb | Distal (>10kb) Multiome | 367 | |
| chr1:21,659,145–21,659,637 | 150.0 kb | Distal (>10kb) Multiome | 960 | |
| chr1:21,668,987–21,670,050 | 160.1 kb | Distal (>10kb) Multiome | 743 | |
| chr1:21,782,310–21,784,177 | 274.0 kb | Distal (>10kb) Multiome | 1096 |
Genomic view of the ALPL 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.