RLBP1

retinaldehyde binding protein 1

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000140522
UniProt:: P12271
OMIM:: 180090
Synonyms:: CRALBP

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

References: PMID:39256350

Subcellular localization

centrosome, cytosol, nucleoplasm

References: PMID:12565814

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).

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