This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]
Transcription factors with Perturb-seq knockdown data for SELENON. 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 = SELENON 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 SELENON, 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 |
|---|---|---|---|---|
| chr1:25,543,218–25,544,436 | 256.6 kb | Distal (>10kb) Multiome HiCAR | 569 | |
| chr1:25,615,967–25,618,316 | 183.6 kb | Distal (>10kb) Multiome HiCAR | 585 | |
| chr1:25,707,237–25,707,853 | 92.8 kb | Distal (>10kb) Multiome | 136 | |
| chr1:25,796,907–25,797,113 | 3.1 kb | Proximal (<10kb) | 309 | |
| chr1:25,798,089–25,798,276 | 1.9 kb | Proximal (<10kb) | 117 | |
| chr1:25,799,785–25,800,844 | 32 bp | At TSS Multiome | 369 | |
| chr1:25,819,447–25,821,126 | 19.8 kb | Distal (>10kb) Multiome | 904 | |
| chr1:25,831,516–25,832,168 | 31.7 kb | Distal (>10kb) Multiome | 89 | |
| chr1:25,847,840–25,848,970 | 48.4 kb | Distal (>10kb) Multiome | 94 | |
| chr1:25,858,921–25,859,851 | 59.3 kb | Distal (>10kb) Multiome | 881 | |
| chr1:25,874,962–25,876,490 | 75.4 kb | Distal (>10kb) Multiome | 888 | |
| chr1:25,895,422–25,895,979 | 95.4 kb | Distal (>10kb) Multiome | 500 | |
| chr1:25,905,055–25,907,219 | 105.4 kb | Distal (>10kb) Multiome | 917 | |
| chr1:25,922,512–25,923,426 | 122.6 kb | Distal (>10kb) Multiome | 386 | |
| chr1:25,968,758–25,969,159 | 168.7 kb | Distal (>10kb) Multiome | 17 | |
| chr1:25,997,628–25,998,708 | 198.0 kb | Distal (>10kb) Multiome | 1091 | |
| chr1:26,021,572–26,022,167 | 221.6 kb | Distal (>10kb) Multiome | 231 | |
| chr1:26,034,958–26,036,424 | 235.9 kb | Distal (>10kb) Multiome | 780 | |
| chr1:26,045,386–26,046,127 | 245.8 kb | Distal (>10kb) Multiome | 178 | |
| chr1:26,093,947–26,095,162 | 294.1 kb | Distal (>10kb) Multiome | 403 |
Genomic view of the SELENON 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.