This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson's disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Transcription factors with Perturb-seq knockdown data for NUB1. 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 = NUB1 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 NUB1, 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 |
|---|---|---|---|---|
| chr7:151,050,894–151,051,476 | 290.6 kb | Distal (>10kb) Multiome | 289 | |
| chr7:151,057,294–151,063,500 | 282.1 kb | Distal (>10kb) Multiome | 1138 | |
| chr7:151,080,217–151,081,897 | 260.9 kb | Distal (>10kb) Multiome | 909 | |
| chr7:151,083,053–151,083,998 | 258.3 kb | Distal (>10kb) Multiome | 581 | |
| chr7:151,085,505–151,086,758 | 255.6 kb | Distal (>10kb) Multiome | 774 | |
| chr7:151,110,933–151,111,501 | 230.6 kb | Distal (>10kb) Multiome | 365 | |
| chr7:151,114,416–151,115,951 | 226.3 kb | Distal (>10kb) Multiome | 279 | |
| chr7:151,123,775–151,124,402 | 217.7 kb | Distal (>10kb) Multiome | 399 | |
| chr7:151,125,352–151,126,446 | 215.9 kb | Distal (>10kb) Multiome | 283 | |
| chr7:151,166,900–151,168,657 | 173.5 kb | Distal (>10kb) Multiome | 533 | |
| chr7:151,172,589–151,173,067 | 169.1 kb | Distal (>10kb) Multiome | 592 | |
| chr7:151,226,743–151,227,948 | 114.4 kb | Distal (>10kb) Multiome | 820 | |
| chr7:151,232,039–151,233,087 | 109.3 kb | Distal (>10kb) Multiome | 692 | |
| chr7:151,244,849–151,245,940 | 96.2 kb | Distal (>10kb) Multiome HiCAR | 325 | |
| chr7:151,247,809–151,249,951 | 93.0 kb | Distal (>10kb) Multiome HiCAR | 522 | |
| chr7:151,251,506–151,252,414 | 89.9 kb | Distal (>10kb) Multiome | 448 | |
| chr7:151,259,810–151,260,360 | 81.7 kb | Distal (>10kb) Multiome | 135 | |
| chr7:151,275,718–151,276,602 | 65.5 kb | Distal (>10kb) Multiome | 99 | |
| chr7:151,276,919–151,277,487 | 64.6 kb | Distal (>10kb) Multiome | 367 | |
| chr7:151,303,363–151,304,005 | 38.2 kb | Distal (>10kb) Multiome | 458 | |
| chr7:151,306,906–151,307,424 | 34.7 kb | Distal (>10kb) Multiome | 60 | |
| chr7:151,341,187–151,342,118 | 106 bp | At TSS Multiome | 757 | |
| chr7:151,350,330–151,350,561 | 8.5 kb | Proximal (<10kb) | 246 | |
| chr7:151,408,879–151,410,989 | 68.3 kb | Distal (>10kb) Multiome | 407 | |
| chr7:151,439,682–151,441,031 | 98.3 kb | Distal (>10kb) Multiome | 189 | |
| chr7:151,448,171–151,448,932 | 106.9 kb | Distal (>10kb) Multiome | 403 | |
| chr7:151,519,052–151,521,056 | 178.3 kb | Distal (>10kb) Multiome | 899 | |
| chr7:151,631,518–151,633,118 | 290.5 kb | Distal (>10kb) Multiome | 611 |
Genomic view of the NUB1 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.