This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]
Transcription factors with Perturb-seq knockdown data for GTPBP3. 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 = GTPBP3 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 GTPBP3, 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 |
|---|---|---|---|---|
| chr19:17,074,934–17,076,532 | 261.1 kb | Distal (>10kb) Multiome | 890 | |
| chr19:17,209,430–17,210,427 | 126.9 kb | Distal (>10kb) Multiome | 245 | |
| chr19:17,215,005–17,215,979 | 121.2 kb | Distal (>10kb) Multiome | 897 | |
| chr19:17,225,705–17,226,889 | 110.3 kb | Distal (>10kb) Multiome | 870 | |
| chr19:17,234,748–17,236,650 | 100.8 kb | Distal (>10kb) Multiome | 612 | |
| chr19:17,244,882–17,247,104 | 90.6 kb | Distal (>10kb) Multiome | 862 | |
| chr19:17,247,935–17,248,860 | 88.1 kb | Distal (>10kb) Multiome | 588 | |
| chr19:17,266,931–17,267,755 | 69.4 kb | Distal (>10kb) Multiome | 720 | |
| chr19:17,281,537–17,283,120 | 53.9 kb | Distal (>10kb) Multiome | 669 | |
| chr19:17,292,242–17,293,049 | 44.0 kb | Distal (>10kb) Multiome | 513 | |
| chr19:17,302,721–17,303,771 | 33.2 kb | Distal (>10kb) Multiome | 636 | |
| chr19:17,305,286–17,306,514 | 31.0 kb | Distal (>10kb) Multiome | 947 | |
| chr19:17,309,159–17,310,151 | 27.2 kb | Distal (>10kb) Multiome | 741 | |
| chr19:17,327,532–17,329,548 | 8.7 kb | Proximal (<10kb) Multiome | 370 | |
| chr19:17,332,597–17,332,938 | 3.7 kb | Proximal (<10kb) | 169 | |
| chr19:17,334,287–17,335,052 | 1.9 kb | Proximal (<10kb) Multiome | 870 | |
| chr19:17,336,574–17,338,240 | 783 bp | At TSS Multiome | 924 | |
| chr19:17,340,311–17,341,226 | 4.0 kb | Proximal (<10kb) Multiome | 419 | |
| chr19:17,346,263–17,346,480 | 9.6 kb | Proximal (<10kb) | 387 | |
| chr19:17,390,414–17,391,521 | 54.5 kb | Distal (>10kb) Multiome | 615 | |
| chr19:17,394,998–17,395,433 | 58.6 kb | Distal (>10kb) Multiome | 403 | |
| chr19:17,398,863–17,399,537 | 62.5 kb | Distal (>10kb) Multiome | 132 | |
| chr19:17,403,087–17,404,355 | 66.8 kb | Distal (>10kb) Multiome | 211 | |
| chr19:17,419,503–17,420,821 | 83.3 kb | Distal (>10kb) Multiome | 869 | |
| chr19:17,424,865–17,425,411 | 88.4 kb | Distal (>10kb) Multiome | 328 | |
| chr19:17,448,174–17,448,841 | 112.0 kb | Distal (>10kb) Multiome | 392 | |
| chr19:17,468,858–17,470,905 | 133.4 kb | Distal (>10kb) Multiome | 743 | |
| chr19:17,488,739–17,489,689 | 152.5 kb | Distal (>10kb) Multiome | 381 | |
| chr19:17,511,113–17,512,592 | 174.9 kb | Distal (>10kb) Multiome | 1021 | |
| chr19:17,538,878–17,540,353 | 203.1 kb | Distal (>10kb) Multiome | 725 | |
| chr19:17,555,194–17,556,523 | 218.9 kb | Distal (>10kb) Multiome | 713 | |
| chr19:17,576,463–17,577,455 | 240.3 kb | Distal (>10kb) Multiome | 236 | |
| chr19:17,579,580–17,580,242 | 243.3 kb | Distal (>10kb) Multiome | 281 | |
| chr19:17,605,468–17,607,009 | 269.5 kb | Distal (>10kb) Multiome | 1030 |
Genomic view of the GTPBP3 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.