The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
Transcription factors with Perturb-seq knockdown data for SNAPIN. 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 = SNAPIN 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 SNAPIN, 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 |
|---|---|---|---|---|
| chr1:153,494,904–153,495,543 | 163.6 kb | Distal (>10kb) Multiome | 290 | |
| chr1:153,532,833–153,533,594 | 125.5 kb | Distal (>10kb) Multiome | 493 | |
| chr1:153,538,198–153,538,657 | 120.2 kb | Distal (>10kb) Multiome | 338 | |
| chr1:153,544,844–153,545,543 | 113.5 kb | Distal (>10kb) Multiome | 575 | |
| chr1:153,568,278–153,569,058 | 90.0 kb | Distal (>10kb) Multiome | 641 | |
| chr1:153,612,574–153,613,563 | 45.6 kb | Distal (>10kb) Multiome | 388 | |
| chr1:153,626,535–153,627,974 | 31.2 kb | Distal (>10kb) Multiome | 697 | |
| chr1:153,633,575–153,634,639 | 24.6 kb | Distal (>10kb) Multiome | 998 | |
| chr1:153,649,206–153,649,896 | 8.8 kb | Proximal (<10kb) | 142 | |
| chr1:153,658,331–153,659,230 | 56 bp | At TSS Multiome | 746 | |
| chr1:153,670,709–153,671,992 | 12.5 kb | Distal (>10kb) Multiome | 884 | |
| chr1:153,697,776–153,698,654 | 39.6 kb | Distal (>10kb) Multiome | 313 | |
| chr1:153,727,492–153,728,827 | 69.2 kb | Distal (>10kb) Multiome | 702 | |
| chr1:153,736,782–153,737,426 | 78.4 kb | Distal (>10kb) Multiome | 10 | |
| chr1:153,745,487–153,745,959 | 87.0 kb | Distal (>10kb) Multiome | 55 | |
| chr1:153,774,962–153,776,698 | 116.5 kb | Distal (>10kb) Multiome | 671 | |
| chr1:153,783,341–153,784,300 | 125.0 kb | Distal (>10kb) Multiome | 794 | |
| chr1:153,922,213–153,923,779 | 264.4 kb | Distal (>10kb) Multiome | 856 | |
| chr1:153,945,717–153,947,118 | 288.0 kb | Distal (>10kb) Multiome | 866 | |
| chr1:153,957,828–153,959,103 | 300.0 kb | Distal (>10kb) Multiome | 912 |
Genomic view of the SNAPIN 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.