RILPL1
Rab Interacting Lysosomal Protein Like 1
Gene Information Card
| Symbol | RILPL1 |
|---|---|
| Full Name | Rab Interacting Lysosomal Protein Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 196296 ncbi.nlm.nih.gov/gene/196296 |
| Ensembl ID | ENSG00000135423 |
| UniProt ID | Q5VXY9 |
| OMIM ID | 614092 |
| HGNC ID | 26429 |
| Aliases | RILPL, FLJ13154, MGC138290 |
Description
RILPL1 encodes a protein that interacts with Rab GTPases and is involved in ciliogenesis and Hedgehog signaling. It localizes to the centrosome and primary cilium, playing a role in ciliary membrane trafficking and signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Orofaciodigital syndrome type XI | Disrupted ciliary function due to RILPL1 loss-of-function variants | ClinVar, OMIM |
| Joubert syndrome | Impaired ciliogenesis and Hedgehog signaling | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney |
| HeLa | 7.8 | Cervical carcinoma |
| HepG2 | 5.4 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function; associated with orofaciodigital syndrome XI |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Impaired ciliary localization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein and loss of ciliary function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cell projection organization (GO:0030030) |
| • cilium assembly (GO:0060271) | • cell projection (GO:0042995) |
| • centrosome (GO:0005813) |
Pathways
• Hedgehog signaling pathway (Reactome R-HSA-5358351)
• Cilium assembly (Reactome R-HSA-5620912)
Protein Summary
RILPL1 is a 413-amino acid protein containing a coiled-coil domain and a C-terminal region that mediates interaction with Rab GTPases. It localizes to the centrosome and primary cilium, where it regulates ciliary membrane trafficking and Hedgehog signal transduction. Loss-of-function mutations cause ciliopathies such as orofaciodigital syndrome XI and Joubert syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RILPL1 Knockout HEK293 Cell Line | EDJ-KQ15075 | Human | 353116 | 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 |
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