RAB28

Cilia effects upon perturbation of RAB28

Loss-of-function effect:

No effect

Overexpression effect:

No effect

Ciliogenesis screen results (5 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.95) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.19) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=187, lfc=-2.17) PMID:30270045

Phenotypes

Mouse phenotype:

decreased lean body mass, abnormal vocalization, decreased bone mineral content, decreased circulating total protein level, increased circulating triglyceride level, increased total body fat amount, decreased heart weight, decreased bone mineral density, abnormal coat/hair pigmentation, abnormal bone structure

Human ciliopathy phenotype:

cone-rod dystrophy

Ciliopathy associations

• Cone-Rod Dystrophy

References: PMID:23746546

Subcellular localization

basal body, flagella

References: PMID:27930654, PMID:32101165

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)

Function

Associated with autosomal recessive cone-rod dystrophy. IFT-associated cargo with BBSome-dependent cell autonomous and non- autonomous functions at the ciliary base, maintaining the structural and functional integrity of cilia (27930654). Ciliary Rab28 and the BBSome negatively regulate extracellular vesicle shedding (32101165)