Ddhd1 Gene Summary [Mouse]
Predicted to enable phospholipase activity. Acts upstream of or within sperm mitochondrion organization. Predicted to be active in cytoplasm. Is expressed in several structures, including cerebral cortex; foregut; ganglia; nose; and tooth. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 28. Orthologous to human DDHD1 (DDHD domain containing 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ddhd1 |
| Official Name | DDHD domain containing 1 [Source:MGI Symbol;Acc:MGI:2150302] |
| Ensembl ID | ENSMUSG00000037697 |
| Bio databases IDs | |
| Aliases | DDHD domain containing 1 |
| Synonyms | 4921528E07RIK, DDHD domain containing 1, iPLA1alpha, iPLA1I, Mir5131, PA-PLA1, SPG28 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Ddhd1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DDHD domain
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive spastic paraplegia type 28
- hereditary spastic paraplegia
- asthenozoospermia
- insomnia
- hairpin sperm flagellum
- teratozoospermia
- oligozoospermia
regulates
- HPRT1
role in cell
- disorganization
- abnormal morphology
- motility
- disorganization in
- mutation in
- fragmentation in
- aggregation in
- elongation in
- aggregation
- fragmentation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ddhd1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- phosphatidylinositol metabolic process
- positive regulation of mitochondrial fission
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- phosphatidylcholine 1-acylhydrolase activity
- phospholipase activity