Gene
rpgrip1
- ID
- ZDB-GENE-091204-394
- Name
- RPGR interacting protein 1
- Symbol
- rpgrip1 Nomenclature History
- Previous Names
-
- si:dkey-86e23.2
- si:dkey-86e23.3 (1)
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Involved in photoreceptor cell outer segment organization and retinal rod cell development. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 6; Leber hereditary optic neuropathy; cone-rod dystrophy 13; and retinitis pigmentosa. Orthologous to human RPGRIP1 (RPGR interacting protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 21 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cone-rod dystrophy 13 | Alliance | Cone-rod dystrophy 13 | 608194 |
| Leber congenital amaurosis 6 | Alliance | Leber congenital amaurosis 6 | 613826 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| retinitis pigmentosa | rpgrip1fh314/fh314 | standard conditions | Alhasani et al., 2020 |
| retinitis pigmentosa | rpgrip1fh314/fh314 | standard conditions | Li et al., 2021 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | C2 domain | C2 domain superfamily | RPGR-interacting protein 1, first C2 domain | RPGRIP1, C-terminal | RPGRIP1 family |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M6YWC7
|
1339 | |||||
|
UniProtKB:A0A8M3B6J7
|
1338 | |||||
|
UniProtKB:A0A8M9PUA9
|
1341 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
rpgrip1-201
(1)
|
Havana | 4653 nt |
Interactions and Pathways
No data available
Plasmids
No data available