Gene
rlbp1b
- ID
- ZDB-GENE-040426-1870
- Name
- retinaldehyde binding protein 1b
- Symbol
- rlbp1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to have phosphatidylinositol bisphosphate binding activity. Involved in optokinetic behavior. Human ortholog(s) of this gene implicated in Bothnia retinal dystrophy; Newfoundland cone-rod dystrophy; fundus albipunctatus; night blindness; and retinitis pigmentosa. Is expressed in optic vesicle; otic vesicle; pericardial region; pronephric duct; and sensory system. Orthologous to human RLBP1 (retinaldehyde binding protein 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 22 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:77766 (16 images)
- IMAGE:6897952 (6 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Bothnia retinal dystrophy | Alliance | Bothnia retinal dystrophy | 607475 |
fundus albipunctatus | Alliance | Fundus albipunctatus | 136880 |
fundus albipunctatus | Alliance | Retinitis punctata albescens | 136880 |
Newfoundland cone-rod dystrophy | Alliance | Newfoundland rod-cone dystrophy | 607476 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | CRAL-TRIO lipid binding domain | CRAL-TRIO lipid binding domain superfamily | CRAL/TRIO, N-terminal domain | CRAL/TRIO, N-terminal domain superfamily |
---|---|---|---|---|---|
UniProtKB:Q6P027
|
307 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
rlbp1b-201
(1)
|
Ensembl | 1,653 nt | ||
mRNA |
rlbp1b-202
(1)
|
Ensembl | 1,520 nt |
Interactions and Pathways
No data available
Plasmids
No data available