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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RILPL1
Rab interacting lysosomal protein like 1
Chromosome 12 · 12q24.31
NCBI Gene: 353116Ensembl: ENSG00000188026.13HGNC: HGNC:26814UniProt: A0A1B0GVV3
25PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolprotein bindingciliary basal bodycentrosomeoculopharyngodistal myopathyoculopharyngodistal myopathy 4neurodegenerative diseaseMODY
✦AI Summary

RILPL1 is a Rab-interacting protein that regulates cellular processes including ciliogenesis and centrosome homeostasis. Mechanistically, RILPL1 functions as a phospho-Rab-specific effector protein that binds to LRRK2-phosphorylated RAB10 and RAB12, leading to inhibition of primary ciliogenesis and defects in centrosomal cohesion 12. Additionally, RILPL1 participates in lysosomal trafficking by promoting Rab-mediated degradation of recycling endosomes, thereby restricting angiogenesis 3. RILPL1 disease relevance is established through GGC repeat expansions in its promoter region, which cause oculopharyngodistal myopathy type 4 (OPDM4), an adult-onset neuromuscular disorder characterized by progressive ocular, pharyngeal, and distal muscle weakness with pathological rimmed vacuoles 45. The pathogenic mechanism involves both RNA toxicity from repeat-containing transcripts that form nuclear foci and epigenetic hypermethylation silencing the expanded allele 4. Clinically, long-read sequencing technologies have improved diagnostic rates for RILPL1-associated OPDM by detecting these difficult-to-sequence repeat expansions 6. Understanding RILPL1's role in LRRK2 signaling also has implications for Parkinson's disease research, as pathogenic LRRK2 mutations dysregulate this pathway 7.

Sources cited
1
RILPL1 recruits phosphorylated RAB10 to centrosomes and contributes to LRRK2-mediated centrosomal cohesion and ciliogenesis deficits
PMID: 31428781
2
RAB12-LRRK2 complex recruits RILPL1 to inhibit primary ciliogenesis and regulate centrosome homeostasis in astrocytes
PMID: 39343966
3
RILPL1 mediates lysosomal trafficking of recycling endosomes and restricts angiogenesis by promoting VEGFR2 degradation
PMID: 39356418
4
GGC repeat expansion in RILPL1 promoter causes OPDM4; pathogenesis involves RNA toxicity and epigenetic hypermethylation
PMID: 35700120
5
RILPL1 repeat expansions are a genetic cause of oculopharyngodistal myopathy characterized by ocular and distal muscle weakness
PMID: 35942670
6
Long-read sequencing improves detection of RILPL1 repeat expansions causing oculopharyngodistal myopathy
PMID: 38406378
7
RILPL1 is a phospho-Rab-specific effector protein that binds LRRK2-phosphorylated Rab GTPases with pathological consequences
PMID: 38621236
Disease Associationsⓘ21
oculopharyngodistal myopathyOpen Targets
0.47Moderate
oculopharyngodistal myopathy 4Open Targets
0.38Weak
neurodegenerative diseaseOpen Targets
0.25Weak
MODYOpen Targets
0.06Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.04Suggestive
hyperproinsulinemiaOpen Targets
0.04Suggestive
Glycogen storage disease due to hepatic glycogen synthase deficiencyOpen Targets
0.04Suggestive
glycogen storage disorder due to hepatic glycogen synthase deficiencyOpen Targets
0.04Suggestive
alcohol drinkingOpen Targets
0.04Suggestive
morbid obesityOpen Targets
0.03Suggestive
arthritisOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
Parkinson diseaseOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
amyotrophic lateral sclerosisOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
ciliopathyOpen Targets
0.00Suggestive
Cognitive impairmentOpen Targets
0.00Suggestive
Oculopharyngodistal myopathy 4UniProt
Pathogenic Variants1
NC_000012.12:g.123533750CGG[40_1000]Pathogenic
Oculopharyngodistal myopathy 4
☆☆☆☆2022
View on ClinVar ↗
Related Genes
RAB10Protein interaction98%RAB8AProtein interaction94%RAB12Protein interaction83%RAB29Protein interaction72%RILPL2Shared pathway67%CIBAR2Shared pathway33%
Tissue Expression6 tissues
Heart
100%
Brain
27%
Ovary
16%
Lung
15%
Liver
8%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
RILPL1RAB10RAB8ARAB12RAB29RILPL2CIBAR2
PROTEIN STRUCTURE
Preparing viewer…
PDB9QM9 · 1.55 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.52–0.95]
RankingsWhere RILPL1 stands among ~20K protein-coding genes
  • #13,055of 20,598
    Most Researched25
  • #5,317of 5,498
    Most Pathogenic Variants1
  • #8,866of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedRILPL1
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Long-read sequencing improves diagnostic rate in neuromuscular disorders.
PMID: 38406378
Acta Myol · 2023
1.00
2
Leucine-Rich Repeat Kinases.
PMID: 38621236
Annu Rev Biochem · 2024
0.90
3
Oculopharyngodistal myopathy.
PMID: 35942670
Curr Opin Neurol · 2022
0.80
4
RAB12-LRRK2 complex suppresses primary ciliogenesis and regulates centrosome homeostasis in astrocytes.
PMID: 39343966
Nat Commun · 2024
0.70
5
GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy.
PMID: 35700120
Ann Neurol · 2022
0.60