RILP (Rab Interacting Lysosomal Protein)
Key regulator of lysosomal transport and positioning
Gene Information Card
| Symbol | RILP |
|---|---|
| Full Name | Rab Interacting Lysosomal Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 17q13.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000108771 |
| UniProt ID | Q96NA2 |
| OMIM ID | 607848 |
| HGNC ID | 30258 |
| Aliases | KIAA0691, RILP1 |
Description
RILP encodes a protein that interacts with Rab7 and Rab34 GTPases to regulate lysosomal transport, positioning, and maturation. It is involved in endocytic trafficking and autophagy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 2B (CMT2B) | RILP mutations disrupt Rab7-mediated lysosomal transport in neurons, leading to axonal degeneration. | ClinVar, OMIM |
| Lysosomal storage disorders | Altered RILP expression impairs lysosomal function and autophagy. | NCBI, PubMed |
| Cancer (e.g., breast, lung) | RILP overexpression correlates with tumor progression and metastasis via lysosomal exocytosis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | Cervical cancer cell line |
| HEK293 | 11.5 | Embryonic kidney cells |
| SH-SY5Y | 9.8 | Neuroblastoma cell line |
| MCF7 | 16.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Disrupts Rab7 binding, impairs lysosomal transport |
| c.470G>A (p.Arg157His) | Missense | <0.01% | Reduced lysosomal clustering |
| c.544_546del (p.Lys182del) | Deletion | <0.01% | Loss of function, associated with CMT2B |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion mutations impair Rab7 interaction and lysosomal transport, leading to neurodegeneration.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg113Trp) act dominant-negative by sequestering Rab7.
View complete mutation data：
Gene Ontology (GO)
| • lysosomal transport | • endosome to lysosome transport |
| • Rab GTPase binding | • cytoplasmic vesicle |
| • autophagy | • protein localization to lysosome |
Pathways
• Endocytosis
• Lysosome
• Autophagy - animal
• Rab7-mediated vesicle trafficking
Protein Summary
RILP is a 401-amino acid protein that contains a Rab7-binding domain and a C-terminal coiled-coil region. It recruits dynein-dynactin motor complexes to Rab7-positive vesicles, facilitating minus-end-directed transport along microtubules. This is critical for lysosomal positioning, phagosome maturation, and autophagic flux.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RILPL1 Knockout HEK293 Cell Line | EDJ-KQ15075 | Human | 353116 | Details Get a Quote |
| RILPL2 Knockout HEK293 Cell Line | EDJ-KQ15076 | Human | 196383 | Details Get a Quote |
| RILPL1 Knockout A-549 Cell Line | EDJ-KQ44395 | Human | 353116 | Details Get a Quote |
| RILPL1 Knockout HCT 116 Cell Line | EDJ-KQ45639 | Human | 353116 | Details Get a Quote |
| RILPL1 Knockout HeLa Cell Line | EDJ-KQ45640 | Human | 353116 | Details Get a Quote |
| RILPL2 Knockout A-549 Cell Line | EDJ-KQ45641 | Human | 196383 | Details Get a Quote |
| RILPL2 Knockout HCT 116 Cell Line | EDJ-KQ45642 | Human | 196383 | Details Get a Quote |
| RILPL2 Knockout HeLa Cell Line | EDJ-KQ45643 | Human | 196383 | Details Get a Quote |
| RILP Knockout HEK293 Cell Line | EDJ-KQ51785 | Human | 83547 | Details Get a Quote |
| RILP Knockout HeLa Cell Line | EDJ-KQ57449 | Human | 83547 | Details Get a Quote |
| RILP Knockout A-549 Cell Line | EDJ-KQ65953 | Human | 83547 | Details Get a Quote |
| RILP Knockout HCT 116 Cell Line | EDJ-KQ74376 | Human | 83547 | Details Get a Quote |
