ZFIN is now using GRCz12tu for Genomic Data
Gene
rpgra
- ID
- ZDB-GENE-070912-423
- Name
- retinitis pigmentosa GTPase regulator a
- Symbol
- rpgra Nomenclature History
- Previous Names
-
- rpgr1 (1)
- rpgr
- si:dkey-19h21.4
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to be involved in cilium organization and visual perception. Predicted to be located in Golgi apparatus; centrosome; and photoreceptor cell cilium. Is expressed in several structures, including eye; gonad; muscle; neural tube; and optic cup. Human ortholog(s) of this gene implicated in X-linked atrophic macular degeneration; X-linked cone-rod dystrophy 1; X-linked retinitis pigmentosa and sinorespiratory infections; retinitis pigmentosa; and retinitis pigmentosa 3. Orthologous to human RPGR (retinitis pigmentosa GTPase regulator).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Shu et al., 2010
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| retinitis pigmentosa 3 | Alliance | Retinitis pigmentosa 3 | 300029 |
| X-linked atrophic macular degeneration | Alliance | Macular degeneration, X-linked atrophic | 300834 |
| X-linked cone-rod dystrophy 1 | Alliance | Cone-rod dystrophy, X-linked, 1 | 304020 |
| X-linked retinitis pigmentosa and sinorespiratory infections | Alliance | Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness | 300455 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| retinitis pigmentosa 3 | rpgrazf4007/zf4007 | standard conditions | Ren et al., 2025 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | RCC1-like domain | Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II | Regulator of chromosome condensation, RCC1 | Ubiquitin ligases and GTPase regulators |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9QB02 | InterPro | 1692 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers