ARL13B
Domain
The C-terminal domain is required for localization to microtubules and the cell membrane.
Function
Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze fit; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interneurons in the developing cerebral cortex. Plays a role in ciliar trafficking of phosphatidylinositol phosphatase INPP5E in ciliogenesis (PubMed:38219074). May regulate ARF6- and RAB22A-dependent endocytic recycling traffic (PubMed:23223633).
Involvement in disease
Joubert syndrome 8
JBTS8
A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Sumoylation is required for PKD2 entry into cilium.
Sequence Similarities
Belongs to the small GTPase superfamily. Arf family.
Tissue Specificity
Expressed in the developing brain.
Cellular localization
- Cell projection
- Cilium membrane
- Lipid-anchor
- Cell projection
- Cilium
- Cell membrane
- Cytoplasm
- Cytoskeleton
- Associates with the cilium membrane via palmitoylation. Localizes to proximal ciliary membranes, to an inversin-like subciliary membrane compartment, excluding the transition zone (PubMed:25138100, PubMed:38219074). Colocalizes with microtubules (PubMed:23223633).
Alternative names
ARL2L1, ARL13B, ADP-ribosylation factor-like protein 13B, ADP-ribosylation factor-like protein 2-like 1, ARL2-like protein 1