The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Transcription factors with Perturb-seq knockdown data for ALAD. 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 = ALAD 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 ALAD, 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 |
|---|---|---|---|---|
| chr9:113,150,622–113,151,556 | 250.3 kb | Distal (>10kb) Multiome | 705 | |
| chr9:113,220,980–113,222,241 | 179.8 kb | Distal (>10kb) Multiome | 819 | |
| chr9:113,274,845–113,275,974 | 125.7 kb | Distal (>10kb) Multiome HiCAR | 852 | |
| chr9:113,331,229–113,332,031 | 69.5 kb | Distal (>10kb) Multiome | 69 | |
| chr9:113,339,770–113,340,691 | 61.0 kb | Distal (>10kb) Multiome | 941 | |
| chr9:113,349,409–113,349,994 | 51.6 kb | Distal (>10kb) Multiome | 358 | |
| chr9:113,376,590–113,377,575 | 24.3 kb | Distal (>10kb) Multiome | 710 | |
| chr9:113,399,812–113,400,390 | 893 bp | At TSS | 72 | |
| chr9:113,400,912–113,402,007 | 110 bp | At TSS Multiome | 859 | |
| chr9:113,407,014–113,407,193 | 5.7 kb | Proximal (<10kb) | 198 | |
| chr9:113,409,973–113,410,921 | 9.3 kb | Proximal (<10kb) Multiome | 997 | |
| chr9:113,411,042–113,411,193 | 9.8 kb | Proximal (<10kb) | 293 | |
| chr9:113,463,361–113,464,008 | 62.4 kb | Distal (>10kb) Multiome | 526 | |
| chr9:113,541,084–113,541,543 | 140.1 kb | Distal (>10kb) Multiome | 160 | |
| chr9:113,591,435–113,592,161 | 190.5 kb | Distal (>10kb) Multiome | 345 | |
| chr9:113,593,578–113,594,410 | 192.7 kb | Distal (>10kb) Multiome | 433 | |
| chr9:113,634,469–113,635,132 | 233.5 kb | Distal (>10kb) Multiome | 142 | |
| chr9:113,658,015–113,658,473 | 256.9 kb | Distal (>10kb) Multiome | 307 | |
| chr9:113,692,033–113,692,884 | 291.2 kb | Distal (>10kb) Multiome | 99 |
Genomic view of the ALAD 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.