Gene
rp1l1b
- ID
- ZDB-GENE-091204-67
- Name
- rp1 like 1b
- Symbol
- rp1l1b Nomenclature History
- Previous Names
-
- si:dkey-33i22.3
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to be involved in axoneme assembly; photoreceptor cell development; and retina development in camera-type eye. Predicted to localize to axoneme. Human ortholog(s) of this gene implicated in occult macular dystrophy and retinitis pigmentosa. Orthologous to human RP1L1 (RP1 like 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
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| occult macular dystrophy | Alliance | Occult macular dystrophy | 613587 |
| retinitis pigmentosa 88 | Alliance | Retinitis pigmentosa 88 | 618826 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Doublecortin domain | Doublecortin domain superfamily |
|---|---|---|---|
|
UniProtKB:A0A8M9PT86
|
3898 | ||
|
UniProtKB:E7F542
|
3919 | ||
|
UniProtKB:A0A8M9PPV2
|
3864 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
rp1l1b-201
(1)
|
Ensembl | 12,281 nt |
Interactions and Pathways
No data available
Plasmids
No data available