The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for SHPK. 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 = SHPK 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 SHPK, 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 |
|---|---|---|---|---|
| chr17:3,529,956–3,530,848 | 105.8 kb | Distal (>10kb) Multiome | 320 | |
| chr17:3,535,341–3,536,205 | 100.6 kb | Distal (>10kb) Multiome | 356 | |
| chr17:3,546,350–3,546,812 | 89.6 kb | Distal (>10kb) Multiome | 106 | |
| chr17:3,635,650–3,637,225 | 187 bp | At TSS Multiome | 866 | |
| chr17:3,667,393–3,669,475 | 32.4 kb | Distal (>10kb) Multiome | 949 | |
| chr17:3,723,432–3,724,429 | 87.6 kb | Distal (>10kb) Multiome | 865 | |
| chr17:3,754,197–3,755,835 | 118.6 kb | Distal (>10kb) Multiome | 396 | |
| chr17:3,845,518–3,846,549 | 210.0 kb | Distal (>10kb) Multiome | 917 | |
| chr17:3,891,925–3,893,745 | 257.0 kb | Distal (>10kb) Multiome | 716 |
Genomic view of the SHPK 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.