The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2020]
Transcription factors with Perturb-seq knockdown data for SOD1. 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 = SOD1 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 SOD1, 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 |
|---|---|---|---|---|
| chr21:31,524,028–31,524,533 | 135.3 kb | Distal (>10kb) Multiome | 76 | |
| chr21:31,555,561–31,556,422 | 103.7 kb | Distal (>10kb) Multiome | 195 | |
| chr21:31,557,394–31,560,223 | 100.4 kb | Distal (>10kb) Multiome | 556 | |
| chr21:31,659,244–31,660,576 | 25 bp | At TSS Multiome | 974 | |
| chr21:31,730,700–31,732,702 | 72.5 kb | Distal (>10kb) Multiome | 872 | |
| chr21:31,872,362–31,874,730 | 213.3 kb | Distal (>10kb) Multiome | 609 |
Genomic view of the SOD1 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.