This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
Transcription factors with Perturb-seq knockdown data for ALAS1. 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 = ALAS1 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 ALAS1, 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 |
|---|---|---|---|---|
| chr3:51,941,340–51,942,909 | 256.0 kb | Distal (>10kb) Multiome | 890 | |
| chr3:51,955,723–51,956,827 | 241.6 kb | Distal (>10kb) Multiome | 289 | |
| chr3:51,967,071–51,968,598 | 230.6 kb | Distal (>10kb) Multiome | 581 | |
| chr3:51,973,571–51,975,404 | 224.1 kb | Distal (>10kb) Multiome | 886 | |
| chr3:51,982,506–51,983,633 | 214.9 kb | Distal (>10kb) Multiome | 933 | |
| chr3:51,990,597–51,991,772 | 207.1 kb | Distal (>10kb) Multiome | 145 | |
| chr3:51,995,468–51,996,121 | 202.2 kb | Distal (>10kb) Multiome | 938 | |
| chr3:52,001,516–52,001,992 | 196.5 kb | Distal (>10kb) Multiome | 448 | |
| chr3:52,055,881–52,058,048 | 140.7 kb | Distal (>10kb) Multiome | 937 | |
| chr3:52,128,194–52,128,700 | 69.8 kb | Distal (>10kb) Multiome | 376 | |
| chr3:52,153,766–52,155,196 | 43.5 kb | Distal (>10kb) Multiome | 896 | |
| chr3:52,197,554–52,198,856 | 59 bp | At TSS Multiome | 731 | |
| chr3:52,238,767–52,239,716 | 41.1 kb | Distal (>10kb) Multiome | 763 | |
| chr3:52,245,446–52,246,450 | 47.8 kb | Distal (>10kb) Multiome | 553 | |
| chr3:52,277,664–52,279,184 | 80.6 kb | Distal (>10kb) Multiome | 844 | |
| chr3:52,287,499–52,288,336 | 89.8 kb | Distal (>10kb) Multiome | 778 | |
| chr3:52,409,430–52,411,187 | 212.2 kb | Distal (>10kb) Multiome | 813 | |
| chr3:52,444,941–52,445,411 | 247.0 kb | Distal (>10kb) Multiome | 426 | |
| chr3:52,455,213–52,455,878 | 257.4 kb | Distal (>10kb) Multiome | 630 |
Genomic view of the ALAS1 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.