Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S12P family. The encoded protein is a key component of the ribosomal small subunit and controls the decoding fidelity and susceptibility to aminoglycoside antibiotics. The gene for mitochondrial seryl-tRNA synthetase is located upstream and adjacent to this gene, and both genes are possible candidates for the autosomal dominant deafness gene (DFNA4). Splice variants that differ in the 5' UTR have been found for this gene; all three variants encode the same protein. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for MRPS12. 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 = MRPS12 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 MRPS12, 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 |
|---|---|---|---|---|
| chr19:38,402,504–38,403,738 | 527.9 kb | Distal (>10kb) Multiome HiCAR | 940 | |
| chr19:38,506,710–38,507,745 | 423.7 kb | Distal (>10kb) Multiome HiCAR | 369 | |
| chr19:38,514,956–38,515,568 | 415.7 kb | Distal (>10kb) Multiome HiCAR | 404 | |
| chr19:38,647,137–38,648,653 | 283.4 kb | Distal (>10kb) Multiome | 856 | |
| chr19:38,666,103–38,666,668 | 264.7 kb | Distal (>10kb) Multiome | 317 | |
| chr19:38,683,677–38,684,144 | 247.3 kb | Distal (>10kb) Multiome | 678 | |
| chr19:38,734,491–38,735,702 | 195.6 kb | Distal (>10kb) Multiome | 338 | |
| chr19:38,735,981–38,737,634 | 193.9 kb | Distal (>10kb) Multiome | 493 | |
| chr19:38,754,913–38,755,455 | 175.7 kb | Distal (>10kb) Multiome | 12 | |
| chr19:38,831,191–38,832,119 | 99.1 kb | Distal (>10kb) Multiome | 931 | |
| chr19:38,849,166–38,852,789 | 78.9 kb | Distal (>10kb) Multiome | 1139 | |
| chr19:38,869,729–38,870,536 | 60.9 kb | Distal (>10kb) Multiome | 350 | |
| chr19:38,899,267–38,900,530 | 31.1 kb | Distal (>10kb) Multiome | 886 | |
| chr19:38,930,044–38,931,363 | 204 bp | At TSS Multiome | 889 | |
| chr19:38,949,549–38,950,582 | 19.0 kb | Distal (>10kb) Multiome | 330 | |
| chr19:38,975,192–38,976,859 | 45.8 kb | Distal (>10kb) Multiome | 846 | |
| chr19:38,995,916–38,996,388 | 65.2 kb | Distal (>10kb) Multiome | 144 | |
| chr19:39,030,958–39,033,042 | 100.7 kb | Distal (>10kb) Multiome | 763 | |
| chr19:39,125,485–39,126,290 | 194.8 kb | Distal (>10kb) Multiome | 866 |
Genomic view of the MRPS12 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.