Gene
rlbp1a
- ID
- ZDB-GENE-040426-1662
- Name
- retinaldehyde binding protein 1a
- Symbol
- rlbp1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 7 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 brain; optic vesicle; and visual system. Orthologous to human RLBP1 (retinaldehyde binding protein 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 19 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73076 (9 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:Q6PC74
|
312 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
rlbp1a-201
(1)
|
Ensembl | 1,084 nt | ||
mRNA |
rlbp1a-202
(1)
|
Ensembl | 1,459 nt |
Interactions and Pathways
No data available
Plasmids
No data available