RAB34
Function
Transport protein involved in the redistribution of lysosomes to the peri-Golgi region (PubMed:27113757). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays a role in the fusion of phagosomes with lysosomes (PubMed:21255211). Involved in ciliogenesis (PubMed:37384395). In particular, it is required for early steps of the intracellular cilium assembly pathway initiated by trafficking and docking of ciliary vesicles to the centrioles in the cytoplasm, followed by axoneme formation in the cytoplasm. After axoneme elongation, the centrioles migrate close to the cell surface so that ciliary vesicles can fuse with the plasma membrane to expose cilia to the extracellular space (By similarity). It seems dispensable for ciliogenesis via the extracellular pathway where cilium assembly begins after migration and docking of the centriole to the plasma membrane (By similarity). Acts also as a positive regulator of hedgehog signaling and regulates ciliary function (By similarity).
Involvement in disease
Orofaciodigital syndrome 20
OFD20
A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD20 is an autosomal recessive form characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the small GTPase superfamily. Rab family.
Cellular localization
- Cytoplasm
- Golgi apparatus
- Cytoplasmic vesicle
- Phagosome
- Cytoplasmic vesicle
- Phagosome membrane
- Lipid-anchor
- Cytoplasmic side
- Cell projection
- Cilium
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Centriole
- Recruited to phagosomes containing S.aureus or M.tuberculosis (PubMed:21255211).
Alternative names
RAB39, RAH, RAB34, Ras-related protein Rab-34, Ras-related protein Rab-39, Ras-related protein Rah