BBS1

Cilia effects upon perturbation of BBS1

Cilia number / % ciliated:

No Effect

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.63) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

abnormal placenta morphology, edema, abnormal placenta vasculature, abnormal blood vessel morphology, preweaning lethality, complete penetrance, anophthalmia, abnormal eye morphology

Mouse ciliopathy phenotype:

microphthalmia

Human ciliopathy phenotype:

Bardet-Biedl syndrome 1; Bardet-Biedl syndrome; retinitis pigmentosa

Ciliopathy associations

• Bardet-Biedl Syndrome
• Cranioectodermal Dysplasia (Sensenbrenner)

Subcellular localization

basal body, cilia, nucleus

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• T cell biology
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• ECM & connective tissue
• Transcription regulation
• Cilia length regulation

Function

Mutated in Bardet-Biedl syndrome (type 1) (OMIM:209901, 12118255). Forms part of BBSome, mediates interaction with RABIN8 (RAB3IP), important for RAB8-mediated membrane protein trafficking (20603001,PMID:17574030,PMID:22072986). Ciliogenesis is not affected in the absence of BBS1.(https://doi.org/10.1371/journal.pone.0195005) . Investigation of the cilia length in patient fibroblasts revealed that the mean ciliary length was significantly shorter in BBS1−/− cells (3.11 µm), whereas BBS5−/− (4.31–4.14 µm) and BBS10−/− (3.8–4.4 µm) all had significantly longer cilia compared to the pool of control cells (3.61 µm)(https://doi.org/10.3390/ijms22031345).