This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]
Transcription factors with Perturb-seq knockdown data for NMNAT1. 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 = NMNAT1 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 NMNAT1, 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 |
|---|---|---|---|---|
| chr1:9,651,631–9,652,549 | 291.4 kb | Distal (>10kb) Multiome | 373 | |
| chr1:9,687,158–9,688,089 | 255.9 kb | Distal (>10kb) Multiome | 575 | |
| chr1:9,688,950–9,690,301 | 253.9 kb | Distal (>10kb) Multiome | 585 | |
| chr1:9,823,213–9,824,739 | 119.4 kb | Distal (>10kb) Multiome | 652 | |
| chr1:9,874,956–9,875,558 | 68.3 kb | Distal (>10kb) Multiome HiCAR | 397 | |
| chr1:9,909,556–9,911,240 | 33.0 kb | Distal (>10kb) Multiome | 791 | |
| chr1:9,942,472–9,942,640 | 833 bp | At TSS | 239 | |
| chr1:9,942,849–9,943,619 | 156 bp | At TSS Multiome | 1015 | |
| chr1:9,950,420–9,950,631 | 6.9 kb | Proximal (<10kb) | 422 | |
| chr1:10,032,377–10,033,814 | 89.4 kb | Distal (>10kb) Multiome | 891 | |
| chr1:10,209,800–10,211,585 | 266.9 kb | Distal (>10kb) Multiome | 934 |
Genomic view of the NMNAT1 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.