This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]
Transcription factors with Perturb-seq knockdown data for ASPH. 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 = ASPH 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 ASPH, 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 |
|---|---|---|---|---|
| chr8:61,433,807–61,435,315 | 279.8 kb | Distal (>10kb) Multiome | 70 | |
| chr8:61,710,900–61,711,438 | 3.2 kb | Proximal (<10kb) | 241 | |
| chr8:61,713,795–61,715,587 | 52 bp | At TSS Multiome | 995 | |
| chr8:61,823,352–61,823,901 | 109.0 kb | Distal (>10kb) Multiome | 120 | |
| chr8:63,007,532–63,008,488 | 1293.4 kb | Distal (>10kb) Multiome HiCAR | 312 | |
| chr8:63,038,366–63,039,917 | 1324.3 kb | Distal (>10kb) Multiome HiCAR | 851 | |
| chr8:63,085,219–63,086,299 | 1371.4 kb | Distal (>10kb) Multiome HiCAR | 381 | |
| chr8:63,167,915–63,169,292 | 1453.9 kb | Distal (>10kb) Multiome HiCAR | 983 | |
| chr8:63,362,380–63,363,580 | 1648.4 kb | Distal (>10kb) Multiome HiCAR | 127 |
Genomic view of the ASPH 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.