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Target intelligence / Profile preview
Rab interacting lysosomal protein-like 1 (RILPL1)
- Target
- RILPL1
- Molecular classification
- Other (Effector protein, Rab-interacting protein)
01
Overview
Rab interacting lysosomal protein-like 1 (RILPL1) is a protein that binds to phosphorylated Rab GTPases and functions as a crucial effector in centrosomal dynamics. It is localized primarily at the mother centriole, playing a key role in ciliary protein content regulation and protein transport, and it is linked to diseases such as Parkinson’s disease and oculopharyngodistal myopathy type 4. Pathogenic mutations in RILPL1 can lead to defects in centrosomal cohesion and cilium biogenesis as well as novel repeat-expansion mediated myopathies.
- Other names
- RILPL1GOSPELRIPL1_HUMAN (UniProt reference)
02
Mechanism of action
Not applicable (no drugs specifically target RILPL1)
03
Biological functions
Regulation of centrosomal dynamicsRegulation of ciliary membrane protein compositionProtein transportRegulation of cell shape and polarityNeuroprotective functions (via interaction with GAPDH)
04
Disease associations
Neurodegenerative disease (implicated in Parkinson's disease pathway through LRRK2 interactions)Neuromuscular disease (oculopharyngodistal myopathy type 4, OPDM4)
05
Biomarkers
Centrosomal cohesion and ciliogenesis defects may serve as biomarkers for LRRK2-related pathology in Parkinson's disease models
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