RS1 Gene Summary [Human]
This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | RS1 |
| Official Name | retinoschisin 1 [Source:HGNC Symbol;Acc:HGNC:10457] |
| Ensembl ID | ENSG00000102104 |
| Bio databases IDs | |
| Aliases | retinoschisin 1 |
| Synonyms | retinoschisin 1, retinoschisis (X-linked, juvenile) 1 (human), RS, RS1H, tmgc1, XLRS1 |
| 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 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 human 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