RB1
RB transcriptional corepressor 1
- Ensembl:
- ENSG00000139687
- UniProt:
- P06400
- OMIM:
- 614041
- Synonyms:
- OSRC, PPP1R130, RB
Cilia effects upon perturbation of RB1
- Cilia number / % ciliated:
- Incrased cilia number
- Loss-of-function effect:
- Longer cilia
Ciliogenesis screen results (4 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: No effect 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=-4.49) PMID:41160700
Subcellular localization
basal body, nucleus, transition zone
Functional category
- Ciliary assembly/disassembly
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
- Actin & cytoskeleton regulation
- Neurogenesis & migration
- Viral interactions
- Protein processing & maturation
- Signaling (Hedgehog, GPCRs, ion channels)
- Cardiac & muscle development
- Transition zone
- ECM & connective tissue
- Transcription regulation
Function
RB1 has localized in basal body, transition zone.
Model organism evidence
Mus musculus (1 reference)
Additionally, we investigated the pathogenic mechanisms of USH2A variants and the therapeutic effects of exon skipping on photoreceptor cilia structure and function.
PMIDs: 40970667