This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The use of alternative translational initiation sites in this gene results in a single transcript variant that can produce isoforms that differ in the length of their N-terminus and which thereby differ in the efficiency of their export from the nucleus to the cytoplasm. In addition, alternative splicing results in multiple transcript variants that encode isoforms that differ in other protein regions as well. One isoform of this gene has been shown to be a microtubule-severing enzyme that regulates microtubule abundance, mobility, and plus-end distribution. Mutations in this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, May 2018]
Transcription factors with Perturb-seq knockdown data for SPAST. 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 = SPAST 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 SPAST, 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 |
|---|---|---|---|---|
| chr2:32,009,204–32,011,546 | 52.7 kb | Distal (>10kb) Multiome | 1139 | |
| chr2:32,039,227–32,040,182 | 23.9 kb | Distal (>10kb) Multiome | 881 | |
| chr2:32,062,443–32,064,607 | 16 bp | At TSS Multiome | 1021 | |
| chr2:32,165,199–32,166,316 | 102.2 kb | Distal (>10kb) Multiome | 991 | |
| chr2:32,277,550–32,278,517 | 214.4 kb | Distal (>10kb) Multiome | 913 | |
| chr2:32,356,410–32,358,403 | 293.4 kb | Distal (>10kb) Multiome | 1140 |
Genomic view of the SPAST 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.