ZFIN is now using GRCz12tu for Genomic Data
Gene
rs1b
- ID
- ZDB-GENE-040912-96
- Name
- retinoschisin 1b
- Symbol
- rs1b Nomenclature History
- Previous Names
-
- zgc:103748 (1)
- Type
- protein_coding_gene
- Location
- Ambiguous Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Acts upstream of or within camera-type eye photoreceptor cell development. Predicted to be located in endomembrane system. Predicted to be active in external side of plasma membrane and extracellular region. Is expressed in eye. Human ortholog(s) of this gene implicated in X-linked juvenile retinoschisis 1 and retinoschisis. Orthologous to human RS1 (retinoschisin 1).
- Genome Resources
-
- Alliance (1)
- Gene:447917 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:103748 (1 image)
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 | Neuropilin/Multicopper Oxidase/Coagulation Factor |
|---|---|---|---|---|---|
| UniProtKB:Q66I57 | InterPro | 250 | |||
| UniProtKB:A0AC58IJJ7 | InterPro | 250 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers
- Comparative Orthology
- Alliance