The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
Transcription factors with Perturb-seq knockdown data for ASS1. 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 = ASS1 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 ASS1, 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 |
|---|---|---|---|---|
| chr9:130,171,788–130,172,513 | 272.7 kb | Distal (>10kb) Multiome | 253 | |
| chr9:130,214,219–130,214,715 | 230.4 kb | Distal (>10kb) Multiome | 146 | |
| chr9:130,243,058–130,243,650 | 201.6 kb | Distal (>10kb) Multiome | 380 | |
| chr9:130,265,477–130,266,015 | 179.2 kb | Distal (>10kb) Multiome | 214 | |
| chr9:130,433,040–130,433,900 | 11.5 kb | Distal (>10kb) Multiome | 543 | |
| chr9:130,444,394–130,446,012 | 143 bp | At TSS Multiome | 568 | |
| chr9:130,446,125–130,446,731 | 1.5 kb | Proximal (<10kb) Multiome | 326 | |
| chr9:130,578,979–130,579,997 | 134.5 kb | Distal (>10kb) Multiome | 855 | |
| chr9:130,663,509–130,664,148 | 219.1 kb | Distal (>10kb) Multiome | 159 | |
| chr9:130,681,081–130,682,308 | 236.6 kb | Distal (>10kb) Multiome HiCAR | 836 | |
| chr9:130,689,990–130,690,532 | 245.3 kb | Distal (>10kb) Multiome HiCAR | 331 | |
| chr9:130,692,215–130,692,841 | 247.5 kb | Distal (>10kb) Multiome | 141 | |
| chr9:130,693,327–130,694,076 | 248.8 kb | Distal (>10kb) Multiome | 752 | |
| chr9:130,712,289–130,713,655 | 267.8 kb | Distal (>10kb) Multiome | 791 |
Genomic view of the ASS1 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.