The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Transcription factors with Perturb-seq knockdown data for EXPH5. 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 = EXPH5 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 EXPH5, 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 |
|---|---|---|---|---|
| chr11:108,467,108–108,468,105 | 126.2 kb | Distal (>10kb) Multiome | 756 | |
| chr11:108,497,307–108,498,913 | 95.9 kb | Distal (>10kb) Multiome | 959 | |
| chr11:108,549,284–108,549,999 | 2.2 kb | Proximal (<10kb) | 43 | |
| chr11:108,551,906–108,552,545 | at TSS | At TSS | 201 | |
| chr11:108,592,726–108,594,399 | 68 bp | At TSS Multiome | 684 | |
| chr11:108,602,955–108,603,181 | 9.2 kb | Proximal (<10kb) | 12 | |
| chr11:108,664,315–108,665,549 | 71.3 kb | Distal (>10kb) Multiome | 672 |
Genomic view of the EXPH5 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.