The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for NDUFV1. 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 = NDUFV1 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 NDUFV1, 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 |
|---|---|---|---|---|
| chr11:67,316,992–67,318,501 | 289.2 kb | Distal (>10kb) Multiome | 918 | |
| chr11:67,352,967–67,354,228 | 253.3 kb | Distal (>10kb) Multiome | 781 | |
| chr11:67,372,171–67,373,596 | 233.9 kb | Distal (>10kb) Multiome | 497 | |
| chr11:67,391,276–67,392,428 | 215.0 kb | Distal (>10kb) Multiome | 957 | |
| chr11:67,401,038–67,402,351 | 205.0 kb | Distal (>10kb) Multiome | 741 | |
| chr11:67,420,418–67,421,666 | 185.7 kb | Distal (>10kb) Multiome | 648 | |
| chr11:67,428,036–67,428,950 | 178.5 kb | Distal (>10kb) Multiome | 813 | |
| chr11:67,443,182–67,444,063 | 163.3 kb | Distal (>10kb) Multiome | 612 | |
| chr11:67,464,410–67,465,252 | 142.2 kb | Distal (>10kb) Multiome | 710 | |
| chr11:67,468,551–67,469,666 | 137.6 kb | Distal (>10kb) Multiome | 774 | |
| chr11:67,482,830–67,483,745 | 123.8 kb | Distal (>10kb) Multiome | 969 | |
| chr11:67,504,073–67,506,408 | 100.6 kb | Distal (>10kb) Multiome | 769 | |
| chr11:67,507,504–67,509,030 | 98.6 kb | Distal (>10kb) Multiome | 897 | |
| chr11:67,583,474–67,584,777 | 23.2 kb | Distal (>10kb) Multiome | 633 | |
| chr11:67,606,302–67,607,213 | 78 bp | At TSS Multiome | 781 | |
| chr11:67,614,064–67,614,626 | 7.4 kb | Proximal (<10kb) Multiome | 383 | |
| chr11:67,615,477–67,615,716 | 8.6 kb | Proximal (<10kb) | 180 | |
| chr11:67,616,036–67,617,178 | 9.1 kb | Proximal (<10kb) | 191 | |
| chr11:67,619,429–67,620,391 | 12.9 kb | Distal (>10kb) Multiome HiCAR | 50 | |
| chr11:67,628,876–67,631,242 | 23.5 kb | Distal (>10kb) Multiome | 1018 | |
| chr11:67,757,971–67,758,804 | 151.4 kb | Distal (>10kb) Multiome | 61 | |
| chr11:67,804,576–67,806,617 | 198.8 kb | Distal (>10kb) Multiome | 372 |
Genomic view of the NDUFV1 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.