RLBP1
retinaldehyde binding protein 1
- Ensembl:
- ENSG00000140522
- UniProt:
- P12271
- OMIM:
- 180090
- Synonyms:
- CRALBP
Cilia effects upon perturbation of RLBP1
Ciliogenesis screen results (5 screens)
- Kim2016: No effect
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.10) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
- Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.28) PMID:41160700
Phenotypes
- Mouse phenotype:
- increased lean body mass; abnormal tooth morphology
- Human ciliopathy phenotype:
- Newfoundland cone-rod dystrophy; retinitis pigmentosa
Ciliopathy associations
- Retinal Dystrophy/Degeneration
Subcellular localization
centrosome, cilia associated gene, cytosol, nucleoplasm
Function
Reporter activity of wildtype and mutant RLBP1 promoter constructs suggest that CRALBP transcriptional regulation may be similar in the ciliary epithelium (CE) and retinal pigment epithelium (RPE) but different in Müller cells(PMID: 12565814).