Rs1 Gene Summary [Mouse]
Enables phosphatidylinositol-3,4-bisphosphate binding activity and phospholipid binding activity. Acts upstream of or within retina layer formation and visual perception. Located in several cellular components, including external side of plasma membrane; neuron to neuron synapse; and photoreceptor inner segment. Part of protein-containing complex. Is active in cell surface. Is expressed in eye. Used to study X-linked juvenile retinoschisis 1. Human ortholog(s) of this gene implicated in X-linked juvenile retinoschisis 1 and retinoschisis. Orthologous to human RS1 (retinoschisin 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Rs1 |
| Official Name | retinoschisis (X-linked, juvenile) 1 (human) [Source:MGI Symbol;Acc:MGI:1336189] |
| Ensembl ID | ENSMUSG00000031293 |
| Bio databases IDs | |
| Aliases | retinoschisis (X-linked, juvenile) 1 (human) |
| Synonyms | retinoschisin 1, retinoschisis (X-linked, juvenile) 1 (human), RS, RS1H, tmgc1, XLRS1 |
| 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 Rs1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipid binding
- binding protein
- Coagulation factor 5/8 C-terminal domain, discoidin domain
- phosphatidylinositol-3,4,5-triphosphate binding
- phosphatidylinositol-4,5-bisphosphate binding
- F5/8 type C domain
- phosphatidylinositol binding
- FA58C
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- X-linked retinoschisis
- retinal dystrophy
- hereditary disorder
- Huntington disease
- early infantile epileptic encephalopathy 2
- spinocerebellar ataxia type 7
- retinal degeneration
- Nicolaides-Baraitser syndrome
regulated by
role in cell
- expression in
- abnormal morphology
- length
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
- cell surface
- cellular membrane
- plasma membrane extracellular face
- synapse
- photoreceptor outer segments
- photoreceptor inner segments
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Rs1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- eye development
- protein homooligomerization
- retina layer formation
- cell adhesion
- visual perception
Cellular Component
Where in the cell the gene product is active
- extracellular space
- external side of plasma membrane
- macromolecular complex
- photoreceptor inner segment
Molecular Function
What the gene product does at the molecular level
- phosphatidylserine binding
- phosphatidylinositol-3,4-bisphosphate binding
- phospholipid binding