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 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for MRPL40. 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 = MRPL40 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 MRPL40, 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 |
|---|---|---|---|---|
| chr22:19,144,380–19,144,950 | 287.8 kb | Distal (>10kb) Multiome | 696 | |
| chr22:19,149,463–19,150,252 | 282.9 kb | Distal (>10kb) Multiome | 173 | |
| chr22:19,169,265–19,169,982 | 262.8 kb | Distal (>10kb) Multiome | 285 | |
| chr22:19,170,964–19,172,196 | 260.9 kb | Distal (>10kb) Multiome | 819 | |
| chr22:19,177,562–19,180,087 | 253.7 kb | Distal (>10kb) Multiome | 875 | |
| chr22:19,290,875–19,292,389 | 140.8 kb | Distal (>10kb) Multiome | 854 | |
| chr22:19,431,488–19,432,799 | 177 bp | At TSS Multiome | 1140 | |
| chr22:19,446,962–19,448,379 | 15.1 kb | Distal (>10kb) Multiome | 889 | |
| chr22:19,478,898–19,480,311 | 47.1 kb | Distal (>10kb) Multiome | 867 | |
| chr22:19,523,289–19,524,793 | 91.1 kb | Distal (>10kb) Multiome | 242 | |
| chr22:19,717,840–19,718,731 | 285.7 kb | Distal (>10kb) Multiome | 592 | |
| chr22:19,723,413–19,724,584 | 291.6 kb | Distal (>10kb) Multiome | 572 | |
| chr22:19,730,516–19,731,296 | 298.3 kb | Distal (>10kb) Multiome | 743 |
Genomic view of the MRPL40 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.