The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for HAX1. 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 = HAX1 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 HAX1, 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 |
|---|---|---|---|---|
| chr1:153,977,057–153,978,034 | 295.0 kb | Distal (>10kb) Multiome | 853 | |
| chr1:153,985,902–153,987,184 | 286.2 kb | Distal (>10kb) Multiome | 572 | |
| chr1:153,990,402–153,991,082 | 281.9 kb | Distal (>10kb) Multiome | 950 | |
| chr1:154,182,339–154,183,774 | 89.3 kb | Distal (>10kb) Multiome | 934 | |
| chr1:154,220,079–154,221,864 | 51.9 kb | Distal (>10kb) Multiome | 1071 | |
| chr1:154,272,082–154,272,847 | 131 bp | At TSS Multiome | 834 | |
| chr1:154,324,640–154,326,731 | 52.2 kb | Distal (>10kb) Multiome | 685 | |
| chr1:154,328,267–154,328,890 | 56.0 kb | Distal (>10kb) Multiome | 261 | |
| chr1:154,352,626–154,353,487 | 80.6 kb | Distal (>10kb) Multiome | 466 | |
| chr1:154,404,987–154,406,067 | 132.8 kb | Distal (>10kb) Multiome | 731 | |
| chr1:154,489,011–154,489,730 | 216.8 kb | Distal (>10kb) Multiome | 82 | |
| chr1:154,493,110–154,493,579 | 220.7 kb | Distal (>10kb) Multiome | 134 | |
| chr1:154,501,716–154,502,717 | 230.0 kb | Distal (>10kb) Multiome | 212 | |
| chr1:154,558,123–154,559,826 | 286.2 kb | Distal (>10kb) Multiome | 1173 | |
| chr1:154,567,476–154,568,396 | 295.3 kb | Distal (>10kb) Multiome | 774 |
Genomic view of the HAX1 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.