RPGRIP1
Retinitis Pigmentosa GTPase Regulator Interacting Protein 1
Gene Information Card
| Symbol | RPGRIP1 |
|---|---|
| Full Name | RPGRIP1 (retinitis pigmentosa GTPase regulator interacting protein 1) |
| Gene Type | protein-coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 57096 ncbi.nlm.nih.gov/gene/57096 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q96KN7 |
| OMIM ID | 605446 |
| HGNC ID | 13436 |
| Aliases | RPGRIP, CORD13, LCA6, RGI1 |
Description
RPGRIP1 encodes a protein that interacts with the retinitis pigmentosa GTPase regulator (RPGR) protein. It is essential for the structural integrity and function of photoreceptor connecting cilia. Mutations in this gene cause various retinal dystrophies, including Leber congenital amaurosis (LCA6), retinitis pigmentosa, and cone-rod dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leber congenital amaurosis 6 (LCA6) | Loss-of-function mutations disrupt RPGRIP1 interaction with RPGR, impairing ciliary transport in photoreceptors, leading to severe early-onset vision loss. | ClinVar, OMIM |
| Retinitis pigmentosa (RP) | Mutations in RPGRIP1 cause autosomal recessive RP, likely due to defective photoreceptor ciliary function and progressive rod degeneration. | ClinVar, OMIM |
| Cone-rod dystrophy 13 (CORD13) | Specific RPGRIP1 variants lead to cone-rod dystrophy, with mechanisms involving impaired protein trafficking in cone and rod photoreceptors. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Testis | 3.2 | Medium |
| Brain (cerebellum) | 1.1 | Low |
| Lung | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 5.6 | Moderate expression |
| HEK 293 (embryonic kidney) | 2.1 | Low expression |
| SH-SY5Y (neuroblastoma) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2236C>T (p.Arg746*) | Nonsense | Rare (found in LCA6 patients) | Premature stop, loss of RPGR-interacting domain, loss of function |
| c.593G>A (p.Arg198Gln) | Missense | Rare (associated with RP) | Alters protein stability and RPGR binding, likely loss of function |
| c.1178delC (p.Pro393Leufs*18) | Frameshift | Rare (found in CORD13) | Frameshift leading to truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most RPGRIP1 mutations are loss-of-function, leading to truncated or unstable proteins that fail to localize to the connecting cilium, disrupting photoreceptor function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RPGRIP1.
Dominant Negative (DN)
No dominant-negative mutations have been described; all known pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • motor activity (GO:0003774) |
| • photoreceptor connecting cilium (GO:0032391) | • visual perception (GO:0007601) |
| • photoreceptor outer segment (GO:0001750) |
Pathways
• Photoreceptor cell maintenance and ciliary transport (Reactome: R-HSA-5620912)
• Retinitis pigmentosa pathway (KEGG: hsa04740)
Protein Summary
RPGRIP1 is a 1259-amino-acid protein localized to the connecting cilium of photoreceptors. It contains multiple coiled-coil domains and a C-terminal RPGR-interacting domain (RID). It functions as a scaffold linking RPGR to ciliary cargo, essential for protein transport between the inner and outer segments of photoreceptors. Loss of RPGRIP1 leads to mislocalization of phototransduction proteins and progressive retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPGRIP1L Knockout HEK293 Cell Line | EDJ-KQ7963 | Human | 23322 | Details Get a Quote |
| RPGRIP1 Knockout HEK293 Cell Line | EDJ-KQ15121 | Human | 57096 | 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 |
| RPGRIP1 Knockout HeLa Cell Line | EDJ-KQ56800 | Human | 57096 | Details Get a Quote |
| RPGRIP1 Knockout A-549 Cell Line | EDJ-KQ65306 | Human | 57096 | Details Get a Quote |
| RPGRIP1 Knockout HCT 116 Cell Line | EDJ-KQ73747 | Human | 57096 | Details Get a Quote |
