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 enable phosphatidylinositol bisphosphate binding activity. Acts upstream of or within optokinetic behavior. Is expressed in optic vesicle; otic vesicle; pericardial region; pronephric duct; and sensory system. Human ortholog(s) of this gene implicated in Bothnia retinal dystrophy; Newfoundland cone-rod dystrophy; fundus albipunctatus; night blindness; and retinitis pigmentosa. 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la014690Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa3301 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| ucd14 | Allele with one delins | Exon 3 | Unknown | CRISPR | |
| zh9 | Allele with one deletion | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-rlbp1b | Ward et al., 2020 | |
| CRISPR2-rlbp1b | Ward et al., 2020 | |
| CRISPR3-rlbp1b | Schlegel et al., 2021 | |
| MO1-rlbp1b | N/A | Fleisch et al., 2008 |
| MO2-rlbp1b | N/A | Collery et al., 2008 |
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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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | 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 | InterPro | 307 |
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- Genome Browsers
| 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 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available