The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Transcription factors with Perturb-seq knockdown data for NDUFS1. 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 = NDUFS1 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 NDUFS1, 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 |
|---|---|---|---|---|
| chr2:205,885,461–205,885,910 | 273.8 kb | Distal (>10kb) Multiome | 447 | |
| chr2:206,032,139–206,032,814 | 127.1 kb | Distal (>10kb) Multiome | 47 | |
| chr2:206,079,507–206,080,446 | 79.6 kb | Distal (>10kb) Multiome | 153 | |
| chr2:206,082,237–206,082,708 | 77.1 kb | Distal (>10kb) Multiome | 71 | |
| chr2:206,083,576–206,086,328 | 73.5 kb | Distal (>10kb) Multiome | 990 | |
| chr2:206,150,090–206,150,492 | 9.0 kb | Proximal (<10kb) | 22 | |
| chr2:206,158,932–206,160,379 | 60 bp | At TSS Multiome | 968 | |
| chr2:206,163,934–206,164,249 | 4.4 kb | Proximal (<10kb) | 27 | |
| chr2:206,212,416–206,212,901 | 53.1 kb | Distal (>10kb) Multiome | 120 | |
| chr2:206,274,456–206,275,776 | 115.3 kb | Distal (>10kb) Multiome | 641 | |
| chr2:206,442,772–206,444,455 | 284.1 kb | Distal (>10kb) Multiome | 438 |
Genomic view of the NDUFS1 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.