This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009]
Transcription factors with Perturb-seq knockdown data for HBS1L. 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 = HBS1L 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 HBS1L, 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 |
|---|---|---|---|---|
| chr6:134,902,167–134,902,866 | 152.4 kb | Distal (>10kb) Multiome | 91 | |
| chr6:135,054,252–135,055,511 | 85 bp | At TSS Multiome | 968 | |
| chr6:135,180,341–135,182,017 | 126.4 kb | Distal (>10kb) Multiome | 668 | |
| chr6:135,182,179–135,184,155 | 128.1 kb | Distal (>10kb) Multiome | 730 | |
| chr6:135,270,682–135,272,345 | 216.6 kb | Distal (>10kb) Multiome | 408 | |
| chr6:135,322,780–135,323,773 | 268.5 kb | Distal (>10kb) Multiome | 488 | |
| chr6:136,249,441–136,251,347 | 1195.6 kb | Distal (>10kb) Multiome HiCAR | 921 |
Genomic view of the HBS1L 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.