The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
Transcription factors with Perturb-seq knockdown data for SPRTN. 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 = SPRTN 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 SPRTN, 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 |
|---|---|---|---|---|
| chr1:231,037,684–231,038,550 | 300.1 kb | Distal (>10kb) Multiome | 274 | |
| chr1:231,039,156–231,041,267 | 298.0 kb | Distal (>10kb) Multiome | 661 | |
| chr1:231,065,566–231,066,080 | 272.4 kb | Distal (>10kb) Multiome | 199 | |
| chr1:231,161,989–231,163,833 | 175.8 kb | Distal (>10kb) Multiome | 768 | |
| chr1:231,211,148–231,211,998 | 126.7 kb | Distal (>10kb) Multiome | 631 | |
| chr1:231,240,746–231,241,633 | 97.0 kb | Distal (>10kb) Multiome | 834 | |
| chr1:231,337,024–231,338,750 | 199 bp | At TSS Multiome | 881 | |
| chr1:231,420,882–231,422,905 | 84.2 kb | Distal (>10kb) Multiome | 956 | |
| chr1:231,528,042–231,528,983 | 190.3 kb | Distal (>10kb) Multiome | 873 | |
| chr1:231,626,385–231,627,805 | 289.3 kb | Distal (>10kb) Multiome HiCAR | 776 |
Genomic view of the SPRTN 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.