SPATA7 Gene Summary [Human]
This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | SPATA7 |
| Official Name | spermatogenesis associated 7 [Source:HGNC Symbol;Acc:HGNC:20423] |
| Ensembl ID | ENSG00000042317 |
| 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 | Human, Homo sapiens |
| 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 human 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 human 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