Gene
rx1
- ID
- ZDB-GENE-990415-236
- Name
- retinal homeobox gene 1
- Symbol
- rx1 Nomenclature History
- Previous Names
-
- etID309857.22 (1)
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to have sequence-specific DNA binding activity. Involved in camera-type eye photoreceptor cell differentiation and retina layer formation. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in isolated microphthalmia 3. Is expressed in eye; optic cup; optic primordium; and optic vesicle. Orthologous to human RAX (retina and anterior neural fold homeobox).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 48 figures from 38 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Nelson et al., 2009
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| isolated microphthalmia 3 | Alliance | Microphthalmia, syndromic 16 | 611038 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | OAR domain | Retinal homeobox protein RAX/RAX2 |
|---|---|---|---|---|---|---|
|
UniProtKB:O42356
|
330 | |||||
|
UniProtKB:Q6P984
|
330 |
Interactions and Pathways
No data available
Plasmids
No data available