BBS9

Cilia effects upon perturbation of BBS9

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.93) PMID:29459680

Phenotypes

Mouse phenotype:

preweaning lethality, complete penetrance, increased leukocyte cell number, increased circulating hdl cholesterol level

Human ciliopathy phenotype:

Bardet-Biedl syndrome 9; Bardet-Biedl syndrome; Bardet-Biedl syndrome 1

Ciliopathy associations

• Bardet-Biedl Syndrome

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• T cell biology
• Ciliary membrane
• Transition zone

Function

Mutated in Bardet-Biedl syndrome (type 7) (OMIM :607968 ,PMID:16380913). Forms part of BBSome, important for RAB8-mediated membrane protein trafficking. Complex-organizing subunit of BBSome. (20603001,PMID:17574030,PMID:22072986). Knockdown of bbs9 also causes reduced number and length of cilia in Kupffer's vesicle (PMID: 22479622).