BBS7

Cilia effects upon perturbation of BBS7

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (5 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=-2.48) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=153, lfc=-2.19) PMID:30270045

Phenotypes

Mouse phenotype:

increased circulating sodium level, preweaning lethality, incomplete penetrance

Mouse ciliopathy phenotype:

abnormal lens morphology, increased circulating alanine transamise level

Human ciliopathy phenotype:

Bardet-Biedl syndrome 7; Bardet-Biedl syndrome; Bardet-Biedl syndrome 1

Ciliopathy associations

• Bardet-Biedl Syndrome

Subcellular localization

basal body, centrosome, cilia, nucleus

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• T cell biology
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• Transcription regulation

Function

Mutated in Bardet-Biedl syndrome (type 7) (OMIM :607590 ,PMID:12567324). Forms part of BBSome important for RAB8-mediated membrane protein trafficking (20603001,PMID:17574030,PMID:22072986). Compared to controls, Bbs7−/− mice show a greatly reduced number of ependymal cell cilia and the remaining cilia are shorter (PMID: 23572516)

Model organism evidence