3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for HAAO. 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 = HAAO 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 HAAO, 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 |
|---|---|---|---|---|
| chr2:42,360,768–42,362,053 | 431.0 kb | Distal (>10kb) Multiome HiCAR | 866 | |
| chr2:42,492,549–42,495,300 | 298.5 kb | Distal (>10kb) Multiome | 920 | |
| chr2:42,545,606–42,546,387 | 246.4 kb | Distal (>10kb) Multiome | 211 | |
| chr2:42,567,798–42,569,119 | 224.0 kb | Distal (>10kb) Multiome | 598 | |
| chr2:42,784,606–42,784,871 | 7.7 kb | Proximal (<10kb) | 90 | |
| chr2:42,792,290–42,793,678 | 220 bp | At TSS Multiome | 808 | |
| chr2:42,794,344–42,794,762 | 1.8 kb | Proximal (<10kb) | 320 | |
| chr2:42,809,783–42,811,471 | 17.8 kb | Distal (>10kb) Multiome | 1125 | |
| chr2:42,928,655–42,929,353 | 136.4 kb | Distal (>10kb) Multiome | 550 | |
| chr2:42,931,483–42,932,156 | 139.3 kb | Distal (>10kb) Multiome | 318 | |
| chr2:42,974,895–42,975,606 | 182.8 kb | Distal (>10kb) Multiome | 709 | |
| chr2:42,983,918–42,984,389 | 191.7 kb | Distal (>10kb) Multiome | 79 | |
| chr2:43,021,751–43,022,514 | 229.5 kb | Distal (>10kb) Multiome | 350 |
Genomic view of the HAAO 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.