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
- Acts upstream of or within embryonic pattern specification. Predicted to be located in cilium. Predicted to be active in photoreceptor connecting cilium. Human ortholog(s) of this gene implicated in several diseases, including Joubert syndrome 7; Meckel syndrome 5; anencephaly; 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