This gene is a member of the intracellular phospholipase A1 gene family. The protein encoded by this gene preferentially hydrolyzes phosphatidic acid. It is a cytosolic protein with some mitochondrial localization, and is thought to be involved in the regulation of mitochondrial dynamics. Overexpression of this gene causes fragmentation of the tubular structures in mitochondria, while depletion of the gene results in mitochondrial tubule elongation. Deletion of this gene in male mice caused fertility defects, resulting from disruption in the organization of the mitochondria during spermiogenesis. In humans, mutations in this gene have been associated with hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, or, familial spastic paraparesis (FSP). This inherited disorder is characterized by progressive weakness and spasticity of the legs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Transcription factors with Perturb-seq knockdown data for DDHD1. 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 = DDHD1 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 DDHD1, 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 |
|---|---|---|---|---|
| chr14:52,852,332–52,854,201 | 300.0 kb | Distal (>10kb) Multiome | 475 | |
| chr14:52,950,305–52,952,252 | 202.1 kb | Distal (>10kb) Multiome | 746 | |
| chr14:53,151,675–53,153,814 | 23 bp | At TSS Multiome | 835 | |
| chr14:53,180,073–53,181,385 | 27.7 kb | Distal (>10kb) Multiome | 192 | |
| chr14:53,217,268–53,218,117 | 64.4 kb | Distal (>10kb) Multiome | 507 | |
| chr14:53,355,345–53,356,164 | 202.5 kb | Distal (>10kb) Multiome | 363 | |
| chr14:54,361,880–54,362,724 | 1209.0 kb | Distal (>10kb) Multiome HiCAR | 146 | |
| chr14:54,366,777–54,367,506 | 1213.8 kb | Distal (>10kb) Multiome HiCAR | 393 |
Genomic view of the DDHD1 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.