PEBP1
phosphatidylethanolamine binding protein 1
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000089220
- UniProt:
- P30086
- OMIM:
- 604591
- Synonyms:
- HCNP, PBP, PEBP, RKIP
Ciliogenesis screen results (2 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-17.24) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Subcellular localization
cilia, nucleus
References: PMID:21685394, PMID:31960115
Functional category
- Ciliary assembly/disassembly
- Signaling (Hedgehog, GPCRs, ion channels)
Function
Rkip (Raf-1 kinase inhibitory protein)prevents cilia formation and is associated with Cep290-mediated photoreceptor degeneration (21685394). PEBP1 (RKIP) localizes to the connecting cilium of photoreceptors, where it interacts with CEP290, and blocks cilia formation through binding RAB8A (PMID 21685394; PMID 31960115).