Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
Transcription factors with Perturb-seq knockdown data for SPTAN1. 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 = SPTAN1 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 SPTAN1, 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 |
|---|---|---|---|---|
| chr9:128,275,636–128,276,535 | 276.5 kb | Distal (>10kb) Multiome | 728 | |
| chr9:128,322,183–128,322,933 | 230.0 kb | Distal (>10kb) Multiome | 962 | |
| chr9:128,340,070–128,341,161 | 212.1 kb | Distal (>10kb) Multiome | 803 | |
| chr9:128,364,858–128,365,437 | 187.4 kb | Distal (>10kb) Multiome | 442 | |
| chr9:128,420,259–128,421,260 | 131.8 kb | Distal (>10kb) Multiome | 701 | |
| chr9:128,455,721–128,456,522 | 96.5 kb | Distal (>10kb) Multiome | 684 | |
| chr9:128,504,482–128,505,188 | 47.8 kb | Distal (>10kb) Multiome | 766 | |
| chr9:128,552,006–128,553,125 | 54 bp | At TSS Multiome | 839 | |
| chr9:128,656,436–128,657,126 | 104.3 kb | Distal (>10kb) Multiome | 1009 | |
| chr9:128,683,393–128,684,010 | 131.1 kb | Distal (>10kb) Multiome | 296 | |
| chr9:128,684,170–128,684,813 | 132.2 kb | Distal (>10kb) Multiome | 574 | |
| chr9:128,688,449–128,689,713 | 136.5 kb | Distal (>10kb) Multiome | 805 | |
| chr9:128,702,246–128,702,946 | 150.0 kb | Distal (>10kb) Multiome | 720 | |
| chr9:128,723,691–128,725,229 | 171.7 kb | Distal (>10kb) Multiome | 821 | |
| chr9:128,771,658–128,772,301 | 219.4 kb | Distal (>10kb) Multiome | 940 | |
| chr9:128,786,928–128,787,516 | 234.7 kb | Distal (>10kb) Multiome | 1040 | |
| chr9:128,818,208–128,819,406 | 265.9 kb | Distal (>10kb) Multiome | 839 | |
| chr9:128,829,505–128,830,189 | 277.3 kb | Distal (>10kb) Multiome | 782 |
Genomic view of the SPTAN1 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.