RAB23
RAB23, member RAS oncogene family
- Ensembl:
- ENSG00000112210
- UniProt:
- Q9ULC3
- OMIM:
- 606144
Cilia effects upon perturbation of RAB23
- Cilia number / % ciliated:
- Decreased cilia number
- Loss-of-function effect:
- Shorter cilia
- Overexpression effect:
- Increased
Ciliogenesis screen results (4 screens)
- Kim2016: Not Reported
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.34) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.94) PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Mouse phenotype:
- decreased bone mineral content, increased mean platelet volume, decreased lean body mass, preweaning lethality, complete penetrance
- Mouse ciliopathy phenotype:
- increased circulating alanine transamise level, increased circulating aspartate transamise level
Ciliopathy associations
- Carpenter Syndrome
Subcellular localization
basal body, cilia
Functional category
- Ciliary assembly/disassembly
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
- Signaling (Hedgehog, GPCRs, ion channels)
Function
Negative regulator of the Hedgehog sig ling pathway, required for retrograde transport away from primary cilia (17646400). It mediates the ciliary recycle of Smo (20375059). Facilitates binding of cytiplasmatic Kif17 with ciliary import carrier importin 尾2, essential for its targeting to the primary cilium (26136363). Rab23-CKO mice exhibit cell-type specific ciliary abnormalities in chondrocytes, MEFs, neural progenitors. Rab23-KO NPCs show perturbed ciliation and desensitized Hh signaling. Loss causes shortened or absent cilia in context-dependent manner.
Model organism evidence
Rab23 GTPase and IFT43 regulate the trafficking of prostaglandin E receptor 4 to primary cilia.
RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome.