The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009]
Transcription factors with Perturb-seq knockdown data for UFD1. 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 = UFD1 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 UFD1, 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 |
|---|---|---|---|---|
| chr22:19,177,562–19,180,087 | 300.3 kb | Distal (>10kb) Multiome | 875 | |
| chr22:19,290,875–19,292,389 | 187.4 kb | Distal (>10kb) Multiome | 854 | |
| chr22:19,431,488–19,432,799 | 46.8 kb | Distal (>10kb) Multiome | 1140 | |
| chr22:19,446,962–19,448,379 | 31.5 kb | Distal (>10kb) Multiome | 889 | |
| chr22:19,478,898–19,480,311 | 527 bp | At TSS Multiome | 867 | |
| chr22:19,523,289–19,524,793 | 44.5 kb | Distal (>10kb) Multiome | 242 | |
| chr22:19,717,840–19,718,731 | 239.1 kb | Distal (>10kb) Multiome | 592 | |
| chr22:19,723,413–19,724,584 | 245.0 kb | Distal (>10kb) Multiome | 572 | |
| chr22:19,730,516–19,731,296 | 251.7 kb | Distal (>10kb) Multiome | 743 | |
| chr22:19,765,840–19,766,429 | 287.0 kb | Distal (>10kb) Multiome | 174 |
Genomic view of the UFD1 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.