EHBP1L1
EH domain binding protein 1 like 1
- Ensembl:
- ENSG00000173442
- UniProt:
- Q8N3D4
- OMIM:
- 619583
- Synonyms:
- DKFZP762C186, TANGERIN
Cilia effects upon perturbation of EHBP1L1
- Loss-of-function effect:
- Longer cilia
- Overexpression effect:
- No effect
Ciliogenesis screen results (2 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Phenotypes
- Mouse phenotype:
- preweaning lethality, complete penetrance
- Human ciliopathy phenotype:
- Non-immune hydrops fetalis
Subcellular localization
cilia
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
Function
EHBP1L1 and binding proteins CD2AP and CIN85 localize to the ciliary sheath membrane, which is a subdomain of the CV, and negatively regulate ciliary length. Depletion of EHBP1L1 and CD2P/CIN85 causes actin nucleation and branching defects around the basal body, suggesting that actin network formation is crucial for maintaining an appropriate length of primary cilia(36754282).