RILPL1
Function
Plays a role in the regulation of cell shape and polarity (By similarity). Plays a role in cellular protein transport, including protein transport away from primary cilia (By similarity). Neuroprotective protein, which acts by sequestring GAPDH in the cytosol and prevent the apoptotic function of GAPDH in the nucleus (By similarity). Competes with SIAH1 for binding GAPDH (By similarity). Does not regulate lysosomal morphology and distribution (PubMed:14668488). Binds to RAB10 following LRRK2-mediated RAB10 phosphorylation which leads to inhibition of ciliogenesis (PubMed:30398148).
Involvement in disease
Oculopharyngodistal myopathy 4
OPDM4
A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM4 is an autosomal dominant form characterized by slow progression and onset of symptoms in the second or third decades.
None
The disease is caused by variants affecting the gene represented in this entry. The causative mutation is a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the gene. The expansion ranges from 139 to 197 repeats in individuals with OPDM, and 9 to 1 repeats in controls.
Post-translational modifications
S-nitrosylation is required for the interaction with GAPDH.
Sequence Similarities
Belongs to the RILPL family.
Tissue Specificity
Widely expressed. Expressed at lower level in liver and kidney.
Cellular localization
- Cytoplasm
- Cytosol
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Centriole
- Cytoplasm
- Cytoskeleton
- Cilium basal body
Alternative names
RLP1, RILPL1, RILP-like protein 1, Rab-interacting lysosomal-like protein 1