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
- Acts upstream of or within cilium assembly; epithelial cilium movement involved in determination of left/right asymmetry; and retina morphogenesis in camera-type eye. Is expressed in several structures, including heart; liver; neural tube; optic cup; and pleuroperitoneal region. 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
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa21936 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-rpgrb | N/A | (2) |
| MO2-rpgrb | N/A | Shu et al., 2010 |
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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 |
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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 |
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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 |
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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 |
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Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-79O8 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001312676 (1) | 4637 nt | ||
| Genomic | GenBank:CR450831 (1) | 190163 nt | ||
| Polypeptide | UniProtKB:F1QM29 (1) | 1413 aa |
- Blanc, M., Alfonso, S., Bégout, M.L., Barrachina, C., Hyötyläinen, T., Keiter, S.H., Cousin, X. (2020) An environmentally relevant mixture of polychlorinated biphenyls (PCBs) and polybrominated diphenylethers (PBDEs) disrupts mitochondrial function, lipid metabolism and neurotransmission in the brain of exposed zebrafish and their unexposed F2 offspring. The Science of the total environment. 754:142097
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Raghupathy, R.K., Gautier, P., Soares, D.C., Wright, A.F., Shu, X. (2015) Evolutionary Characterization of the Retinitis Pigmentosa GTPase Regulator Gene. Investigative ophthalmology & visual science. 56:6255-6264
- Nishiguchi, K.M., Tearle, R.G., Liu, Y.P., Oh, E.C., Miyake, N., Benaglio, P., Harper, S., Koskiniemi-Kuendig, H., Venturini, G., Sharon, D., Koenekoop, R.K., Nakamura, M., Kondo, M., Ueno, S., Yasuma, T.R., Beckmann, J.S., Ikegawa, S., Matsumoto, N., Terasaki, H., Berson, E.L., Katsanis, N., and Rivolta, C. (2013) Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proceedings of the National Academy of Sciences of the United States of America. 110(40):16139-16144
- Raghupathy, R.K., McCulloch, D.L., Akhtar, S., Al-Mubrad, T.M., and Shu, X. (2013) Zebrafish Model for the Genetic Basis of X-Linked Retinitis Pigmentosa. Zebrafish. 10(1):62-9
- Ghosh, A.K., Murga-Zamalloa, C.A., Chan, L., Hitchcock, P.F., Swaroop, A., and Khanna, H. (2010) Human retinopathy-associated ciliary protein Retinitis Pigmentosa GTPase Regulator (RPGR) regulates cilia-dependent vertebrate development. Human molecular genetics. 19(1):90-98
- Shu, X., Zeng, Z., Gautier, P., Lennon, A., Gakovic, M., Patton, E., and Wright, A. (2010) Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport processes. Human molecular genetics. 19(4):657-670
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