This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for DTNBP1. 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 = DTNBP1 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 DTNBP1, 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 |
|---|---|---|---|---|
| chr6:15,409,286–15,410,423 | 253.3 kb | Distal (>10kb) Multiome | 247 | |
| chr6:15,434,237–15,434,856 | 228.4 kb | Distal (>10kb) Multiome | 263 | |
| chr6:15,460,916–15,461,553 | 201.7 kb | Distal (>10kb) Multiome | 161 | |
| chr6:15,662,157–15,663,390 | 51 bp | At TSS Multiome | 900 | |
| chr6:15,948,931–15,949,913 | 286.5 kb | Distal (>10kb) Multiome | 472 | |
| chr6:16,128,529–16,130,130 | 466.0 kb | Distal (>10kb) Multiome HiCAR | 1070 | |
| chr6:16,174,497–16,175,068 | 511.8 kb | Distal (>10kb) Multiome HiCAR | 94 | |
| chr6:16,238,170–16,238,814 | 575.5 kb | Distal (>10kb) Multiome HiCAR | 433 |
Genomic view of the DTNBP1 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.