This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]
Transcription factors with Perturb-seq knockdown data for SPART. 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 = SPART 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 SPART, 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 |
|---|---|---|---|---|
| chr13:36,130,286–36,131,909 | 215.6 kb | Distal (>10kb) Multiome | 348 | |
| chr13:36,297,356–36,298,329 | 48.9 kb | Distal (>10kb) Multiome | 597 | |
| chr13:36,298,442–36,299,112 | 47.9 kb | Distal (>10kb) Multiome | 192 | |
| chr13:36,324,257–36,325,131 | 22.2 kb | Distal (>10kb) Multiome | 143 | |
| chr13:36,337,249–36,337,726 | 8.8 kb | Proximal (<10kb) | 19 | |
| chr13:36,338,321–36,338,886 | 7.6 kb | Proximal (<10kb) | 14 | |
| chr13:36,345,510–36,347,162 | 57 bp | At TSS Multiome | 776 | |
| chr13:36,431,409–36,432,761 | 85.4 kb | Distal (>10kb) Multiome | 369 |
Genomic view of the SPART 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.