CCDC28B
coiled-coil domain containing 28B
- Ensembl:
- ENSG00000160050
- UniProt:
- Q9BUN5
- OMIM:
- 610162
- Synonyms:
- MGC1203, RP4-622L5.5
Cilia effects upon perturbation of CCDC28B
- Cilia number / % ciliated:
- Decreased cilia number
- Loss-of-function effect:
- Shorter cilia
- Overexpression effect:
- Longer cilia
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:
- abnormal reti outer nuclear layer morphology, abnormal reti inner nuclear layer morphology
Ciliopathy associations
- Bardet-Biedl Syndrome
Subcellular localization
basal body, centrosome
Functional category
- Ciliary assembly/disassembly
- Cilia length regulation
Function
Reportes as second site modifier of the ciliopathy Bardet-Biedl syndrome. It is a positive regulator of mTOR complex 2 and interacts with SIN1 and Kinesine 1 to regulate cilia length in vivo (23727834, 29445114).Transfected hTERT-RPE cells with our RNA oligos and measured the percentage of ciliated cells and the average ciliary length in controls, CCDC28B and IFT88 knockdown cells. We observed a significant reduction in both the number and length of cilia upon knockdown of CCDC28B(PMID: 23015189). CCDC28B maintains normal cilia length and ciliogenesis, LoF shortens cilia and reduces proportion of cilia-positive cells, OE can rescue(PMID: 29445114).
Model organism evidence
The present study investigates the role of CCDC28A, a protein expressed specifically in male germ cells, whose paralog CCDC28B has been implicated in ciliogenesis.
CCDC28B (coiled-coil domain-containing protein 28B) was identified as a modifier in the ciliopathy Bardet-Biedl syndrome (BBS).
CCDC28B (coiled-coil domain-containing protein 28B) was identified as a modifier in the ciliopathy Bardet-Biedl syndrome (BBS).
Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B.