Gene
rs1a
- ID
- ZDB-GENE-040801-171
- Name
- retinoschisin 1a
- Symbol
- rs1a Nomenclature History
- Previous Names
-
- rs1
- zgc:92703
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to be involved in retina layer formation. Predicted to be active in external side of plasma membrane and extracellular space. Is expressed in brain and visual system. Human ortholog(s) of this gene implicated in X-linked juvenile retinoschisis 1 and retinoschisis. Orthologous to human RS1 (retinoschisin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7149414 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
X-linked juvenile retinoschisis 1 | Alliance | Retinoschisis | 312700 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Coagulation factor 5/8, C-terminal domain | Galactose-binding-like domain superfamily |
---|---|---|---|---|
UniProtKB:Q6DH01 | InterPro | 230 |
Interactions and Pathways
No data available
Plasmids
No data available