The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ATL1. 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 = ATL1 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 ATL1, 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 |
|---|---|---|---|---|
| chr14:50,311,389–50,313,095 | 220.5 kb | Distal (>10kb) Multiome HiCAR | 986 | |
| chr14:50,396,285–50,397,366 | 136.0 kb | Distal (>10kb) Multiome | 782 | |
| chr14:50,531,734–50,533,317 | 144 bp | At TSS Multiome | 905 | |
| chr14:50,559,970–50,561,283 | 27.8 kb | Distal (>10kb) Multiome | 524 | |
| chr14:50,667,319–50,668,903 | 135.5 kb | Distal (>10kb) Multiome | 914 | |
| chr14:50,823,525–50,824,353 | 291.1 kb | Distal (>10kb) Multiome | 183 | |
| chr14:50,829,783–50,831,951 | 298.4 kb | Distal (>10kb) Multiome | 634 |
Genomic view of the ATL1 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.