RAB35

RAB35, member RAS oncogene family

Ensembl:
ENSG00000111737
UniProt:
Q15286
OMIM:
604199
Synonyms:
H-RAY

Cilia effects upon perturbation of RAB35

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.23) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, casTLE effect=0.72) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance
Mouse ciliopathy phenotype:
cataract, abnormal lens morphology
Human ciliopathy phenotype:
Homozygous missense variant (R27H) causes global developmental delay, hydrocephalus, Dandy-Walker malformation, axial hypotonia with peripheral hypertonia, visual problems, conductive hearing impairment.

Ciliopathy associations

  • Dandy-Walker Malformation with Neurodevelopmental Delay

Subcellular localization

ciliary membrane

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Ciliary membrane

Function

Rab35 at the mammalian and zebrafish cilium regulates cilium length and left‐right asymmetry, and controls the ciliary levels of PI(4,5)P2 and regulators of the Sonic hedgehog pathway. Rab35 GTPase localizes to the ciliary membrane and pocket of mammalian cells and Kupffer's vesicles of zebrafish along with its GAP and GEF.Rab35 depletion leads to formation of shorter cilia in both systems and interferes with left‐ right symmetry formation of zebrafish.Rab35 depletion reduces the levels of Sonic hedgehog signaling components and PI(4,5)P2 in the ciliary membrane. Rab35 interacts with Arl13b and inhibits its ciliary accumulation(PMID: 31432619).

Model organism evidence

Mus musculus (3 references)

Studies in cell lines have indicated that Rab35 participates in cell adhesion, polarity, cytokinesis, and primary cilia length and composition.

Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis.

PMIDs: 38530365, 37745459, 29125462

Danio rerio (2 references)

Rab8, Rab11, and Rab35 coordinate lumen and cilia formation during zebrafish left-right organizer development.

Rab35 loss via siRNAs, morpholinos or knockout reduces cilium length in mammalian cells and the zebrafish left-right organiser (Kupffer's vesicle) and causes motile cilia-associated left-right asymmetry defects.

PMIDs: 37186603, 31432619