This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
Transcription factors with Perturb-seq knockdown data for MAMLD1. 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 = MAMLD1 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 MAMLD1, 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 |
|---|---|---|---|---|
| chrX:150,361,062–150,361,704 | at TSS | At TSS | 86 | |
| chrX:150,362,941–150,363,565 | 1.5 kb | Proximal (<10kb) | 258 | |
| chrX:150,363,983–150,364,775 | 2.6 kb | Proximal (<10kb) | 247 | |
| chrX:150,365,181–150,365,884 | 3.8 kb | Proximal (<10kb) | 350 | |
| chrX:150,420,896–150,421,097 | at TSS | At TSS | 4 | |
| chrX:150,568,001–150,569,320 | 207.1 kb | Distal (>10kb) Multiome | 620 |
Genomic view of the MAMLD1 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.