RAB34

Cilia effects upon perturbation of RAB34

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (5 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.83) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.69) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.31, ciliated=20.0%) PMID:26595381
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-3.16) PMID:41160700

Phenotypes

Mouse phenotype:

abnormal limb morphology, facial cleft, abnormal limb bud morphology, abnormal craniofacial morphology, abnormal body wall morphology, preweaning lethality, complete penetrance, anophthalmia, edema, cleft palate

Mouse ciliopathy phenotype:

abnormal facial morphology, polydactyly, increased heart weight

Ciliopathy associations

• Orofaciodigital Syndrome
• Skeletal Ciliopathy

Subcellular localization

basal body, cilia, endosome

Functional category

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

Function

Rab34 regulates the early steps in serum starvation- induced ciliogenesis in hTERT-RPE1 cells, through a unique N-termi l region, by regulating the ciliary vesicle fusion step and/or the subsequent expansion. Required for ciliogenesis in only certain cell types (32669361). Rab34 is required for the successive fusion of small preciliary vesicles in order to generate ciliary vesicles, it is also required for the migration of the mother centriole from perinuclear region to cell membrane. Required for an early step of ciliary vesicle formation and Hh sig ling in vivo. Mutation results in significant decrease of ciliogenesis in both cultured cells and mice (30301781). Potential transcriptio l target of Gli transcription factors (17442700).