This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. A homozygous knockout of the orthologous gene in mice results in embryonic lethality at day 7.5 due to growth retardation and defective development of the trophoblast lineage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Transcription factors with Perturb-seq knockdown data for ATAD3A. 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 = ATAD3A 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 ATAD3A, 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 |
|---|---|---|---|---|
| chr1:1,231,448–1,233,390 | 280.0 kb | Distal (>10kb) Multiome | 884 | |
| chr1:1,273,333–1,274,645 | 238.2 kb | Distal (>10kb) Multiome | 779 | |
| chr1:1,293,434–1,294,454 | 218.3 kb | Distal (>10kb) Multiome | 234 | |
| chr1:1,307,375–1,310,219 | 203.8 kb | Distal (>10kb) Multiome | 897 | |
| chr1:1,324,278–1,325,394 | 187.4 kb | Distal (>10kb) Multiome | 735 | |
| chr1:1,348,716–1,350,027 | 162.6 kb | Distal (>10kb) Multiome | 539 | |
| chr1:1,353,403–1,354,425 | 158.3 kb | Distal (>10kb) Multiome | 276 | |
| chr1:1,374,767–1,375,798 | 136.8 kb | Distal (>10kb) Multiome | 1113 | |
| chr1:1,398,861–1,399,955 | 112.7 kb | Distal (>10kb) Multiome | 879 | |
| chr1:1,406,992–1,407,823 | 104.8 kb | Distal (>10kb) Multiome | 938 | |
| chr1:1,435,318–1,436,066 | 76.5 kb | Distal (>10kb) Multiome | 511 | |
| chr1:1,505,010–1,505,271 | 6.9 kb | Proximal (<10kb) | 289 | |
| chr1:1,511,006–1,511,242 | 918 bp | At TSS | 107 | |
| chr1:1,511,442–1,512,404 | 146 bp | At TSS Multiome | 897 | |
| chr1:1,540,164–1,541,317 | 28.5 kb | Distal (>10kb) Multiome | 195 | |
| chr1:1,573,904–1,575,432 | 62.6 kb | Distal (>10kb) Multiome | 949 | |
| chr1:1,599,945–1,600,642 | 87.8 kb | Distal (>10kb) Multiome | 307 | |
| chr1:1,615,103–1,616,799 | 103.3 kb | Distal (>10kb) Multiome | 951 | |
| chr1:1,628,379–1,632,529 | 117.9 kb | Distal (>10kb) Multiome | 552 | |
| chr1:1,658,722–1,659,418 | 147.0 kb | Distal (>10kb) Multiome | 602 | |
| chr1:1,724,054–1,724,738 | 212.3 kb | Distal (>10kb) Multiome | 631 | |
| chr1:1,777,637–1,780,173 | 266.6 kb | Distal (>10kb) Multiome | 970 | |
| chr1:1,782,008–1,783,229 | 270.1 kb | Distal (>10kb) Multiome | 590 |
Genomic view of the ATAD3A 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.