Spata7 Gene Summary [Mouse]
Involved in microtubule cytoskeleton organization; photoreceptor cell maintenance; and protein localization to non-motile cilium. Located in photoreceptor distal connecting cilium. Is active in rod photoreceptor outer segment. Is expressed in several structures, including blood vessel; central nervous system; and retina layer. Used to study Leber congenital amaurosis 3. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 3. Orthologous to human SPATA7 (spermatogenesis associated 7). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Spata7 |
| Official Name | spermatogenesis associated 7 [Source:MGI Symbol;Acc:MGI:2144877] |
| Ensembl ID | ENSMUSG00000021007 |
| Bio databases IDs | |
| Aliases | spermatogenesis associated 7 |
| Synonyms | AI661438, B230306G18RIK, DKFZP564F2122, HEL-S-296, HSD3, HSD-3.1, LCA3, RP94, RSD-3, spermatogenesis associated 7, WMP1 |
| 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 Spata7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Spermatogenesis-associated protein 7, or HSD3
- protein binding
- zDHHC ankyrin repeat binding domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Leber congenital amaurosis type 1
- Leber congenital amaurosis type 3
- SPATA7-related disorder
- COVID-19
- retinal dystrophy
- variable age at onset retinitis pigmentosa type 94
- autosomal recessive retinitis pigmentosa
- attention deficit hyperactivity disorder
- juvenile retinitis pigmentosa
- retinitis pigmentosa
role in cell
- abnormal morphology
- electrophysiology
- organization
- degeneration
- maintenance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microtubule cytoskeleton
- basal bodies
- axonemes
- cytosol
- connecting cilia
- photoreceptor outer segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Spata7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- photoreceptor cell maintenance
- microtubule cytoskeleton organization
- visual perception
Cellular Component
Where in the cell the gene product is active
- photoreceptor connecting cilium
- microtubule cytoskeleton
- cilium basal body
- cytosol
- axoneme
Molecular Function
What the gene product does at the molecular level
- protein binding