Gene
rpgrb
- ID
- ZDB-GENE-081015-2
- Name
- retinitis pigmentosa GTPase regulator b
- Symbol
- rpgrb Nomenclature History
- Previous Names
-
- rpgr2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Involved in cilium assembly; epithelial cilium movement involved in determination of left/right asymmetry; and retina morphogenesis in camera-type eye. Human ortholog(s) of this gene implicated in X-linked cone-rod dystrophy 1; retinitis pigmentosa; and retinitis pigmentosa 3. Is expressed in several structures, including heart; liver; neural tube; optic cup; and pleuroperitoneal region. Orthologous to human RPGR (retinitis pigmentosa GTPase regulator).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- 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 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR051210 | Ubiquitin ligases and GEF domain-containing protein |
| Family | IPR051709 | Ubiquitin ligases and GTPase regulators |
| Homologous_superfamily | IPR009091 | Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II |
| Repeat | IPR000408 | Regulator of chromosome condensation, RCC1 |
Domain Details Per Protein
| Protein | Length | Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II | Regulator of chromosome condensation, RCC1 | Ubiquitin ligases and GEF domain-containing protein | Ubiquitin ligases and GTPase regulators |
|---|---|---|---|---|---|
|
UniProtKB:F1QEL3
|
708 | ||||
|
UniProtKB:F1QM29
|
1413 |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-rpgr | polyclonal | IgG | Rabbit |
|
Atlas Antibodies AB
|
4 |
Plasmids