This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]
Transcription factors with Perturb-seq knockdown data for NDUFAF1. 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 = NDUFAF1 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 NDUFAF1, 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 |
|---|---|---|---|---|
| chr15:41,115,645–41,116,753 | 286.1 kb | Distal (>10kb) Multiome | 909 | |
| chr15:41,230,581–41,231,535 | 171.4 kb | Distal (>10kb) Multiome | 1063 | |
| chr15:41,283,739–41,284,308 | 118.5 kb | Distal (>10kb) Multiome | 798 | |
| chr15:41,332,102–41,333,206 | 69.8 kb | Distal (>10kb) Multiome | 883 | |
| chr15:41,402,299–41,402,613 | at TSS | At TSS | 997 | |
| chr15:41,416,690–41,417,765 | 14.6 kb | Distal (>10kb) Multiome | 734 | |
| chr15:41,493,120–41,493,918 | 91.2 kb | Distal (>10kb) Multiome | 692 | |
| chr15:41,543,905–41,544,403 | 141.7 kb | Distal (>10kb) Multiome | 687 | |
| chr15:41,558,746–41,559,337 | 156.7 kb | Distal (>10kb) Multiome | 358 | |
| chr15:41,621,149–41,622,233 | 219.3 kb | Distal (>10kb) Multiome | 998 | |
| chr15:41,636,747–41,637,351 | 234.5 kb | Distal (>10kb) Multiome | 46 | |
| chr15:41,659,914–41,660,957 | 257.9 kb | Distal (>10kb) Multiome | 850 |
Genomic view of the NDUFAF1 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.