Gene
rpgrip1l
- ID
- ZDB-GENE-081104-81
- Name
- RPGRIP1 like
- Symbol
- rpgrip1l Nomenclature History
- Previous Names
-
- si:ch1073-301i20.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Involved in embryonic pattern specification. Human ortholog(s) of this gene implicated in several diseases, including COACH syndrome; Joubert syndrome 7; Meckel syndrome 5; retinitis pigmentosa 3; and vascular dementia. Orthologous to human RPGRIP1L (RPGRIP1 like).
- 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
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Joubert syndrome 7 | Alliance | Joubert syndrome 7 | 611560 |
| Meckel syndrome 5 | Alliance | Meckel syndrome 5 | 611561 |
| ?COACH syndrome 3 | 619113 |
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:E7F4E7
|
1256 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
rpgrip1l-201
(1)
|
Ensembl | 3,853 nt | ||
| mRNA |
rpgrip1l-202
(1)
|
Ensembl | 8,616 nt |
Interactions and Pathways
No data available
Plasmids
No data available