RPGRIP1L
RPGRIP1 Like, Cilia and Centrosome Associated Gene
Gene Information Card
| Symbol | RPGRIP1L |
|---|---|
| Full Name | RPGRIP1 Like, Cilia And Centrosome Associated |
| Gene Type | Protein coding |
| Chromosomal Location | 16q12.2 |
| NCBI Gene ID | 23322 ncbi.nlm.nih.gov/gene/23322 |
| Ensembl ID | ENSG00000103490 |
| UniProt ID | Q68CZ1 |
| OMIM ID | 610937 |
| HGNC ID | 29182 |
| Aliases | CORS3, FTML, JBTS7, MKSR, NPHP8, MKS5, KIAA1005, dJ69E11.3 |
Description
RPGRIP1L encodes a protein that localizes to cilia and centrosomes, essential for ciliary function and signaling. Mutations in this gene cause several ciliopathies, including Meckel syndrome type 5, Joubert syndrome type 7, and nephronophthisis type 8. The protein interacts with RPGRIP1 and other ciliary components to regulate photoreceptor and renal epithelial cell function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Meckel syndrome type 5 (MKS5) | Loss-of-function mutations disrupt ciliary assembly and signaling, leading to developmental defects | OMIM #611561 |
| Joubert syndrome type 7 (JBTS7) | Hypomorphic mutations impair cerebellar and retinal development via ciliary dysfunction | OMIM #611560 |
| Nephronophthisis type 8 (NPHP8) | Defects in renal cilia cause tubular atrophy and fibrosis | OMIM #613550 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.2 | Medium |
| Kidney | 10.5 | Medium |
| Brain | 8.1 | Low |
| Retina | 12.0 | Medium |
| Liver | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | Embryonic kidney cells |
| ARPE-19 | 11.2 | Retinal pigment epithelium |
| HepG2 | 6.4 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2174G>A (p.Arg725Gln) | Missense | Rare | Impaired ciliary localization |
| c.2995C>T (p.Arg999*) | Nonsense | Rare | Loss of function, truncation |
| c.1240C>T (p.Arg414Cys) | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause truncated protein, loss of ciliary function, associated with severe MKS5.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • cilium assembly | • photoreceptor cell maintenance |
| • protein localization to cilium | • centrosome |
| • ciliary basal body |
Pathways
• Ciliopathy pathway
• Hedgehog signaling (cilium-dependent)
Protein Summary
RPGRIP1L is a 1,315-amino acid protein containing coiled-coil domains and a C2 domain, localized to the ciliary transition zone. It interacts with RPGRIP1, nephrocystins, and other ciliary proteins to maintain ciliary gate integrity and signaling. Defects lead to ciliopathies affecting retina, kidney, and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPGRIP1L Knockout HEK293 Cell Line | EDJ-KQ7963 | Human | 23322 | Details Get a Quote |
| RPGRIP1L Knockout A-549 Cell Line | EDJ-KQ33650 | Human | 23322 | Details Get a Quote |
| RPGRIP1L Knockout HCT 116 Cell Line | EDJ-KQ33651 | Human | 23322 | Details Get a Quote |
| RPGRIP1L Knockout HeLa Cell Line | EDJ-KQ33652 | Human | 23322 | Details Get a Quote |
