RP1L1: Retinitis Pigmentosa 1-Like 1
Key gene in photoreceptor function and inherited retinal dystrophies
Gene Information Card
| Symbol | RP1L1 |
|---|---|
| Full Name | Retinitis Pigmentosa 1-Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 94137 ncbi.nlm.nih.gov/gene/94137 |
| Ensembl ID | ENSG00000143614 |
| UniProt ID | Q8IYP2 |
| OMIM ID | 608581 |
| HGNC ID | 15946 |
| Aliases | CORD8, RP1L1, dJ402H5.2 |
Description
RP1L1 encodes a photoreceptor-specific protein that localizes to the connecting cilium of rod and cone cells. It is essential for the proper alignment and stacking of outer segment discs, thereby maintaining photoreceptor structure and function. Mutations in RP1L1 cause autosomal recessive retinitis pigmentosa (RP) and autosomal dominant cone-rod dystrophy (CORD8).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa (RP) | Loss-of-function mutations disrupt photoreceptor outer segment morphogenesis, leading to progressive rod and cone degeneration. | ClinVar, OMIM |
| Cone-rod dystrophy 8 (CORD8) | Dominant negative or gain-of-function mutations impair cone function earlier than rods, causing central vision loss. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High | Tissue-specific |
| Testis | Low | Non-specific |
| Brain | Not detected | - |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 | Not expressed | Retinal pigment epithelium cell line |
| Y79 | Moderate | Retinoblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.133C>T (p.Arg45*) | Nonsense | Rare | Premature truncation, loss of function |
| c.2029C>T (p.Arg677Trp) | Missense | Rare | Dominant negative effect in CORD8 |
| c.3478C>T (p.Arg1160*) | Nonsense | Rare | Loss of function, retinitis pigmentosa |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein and photoreceptor degeneration.
Gain of Function (GOF)
Not well documented; some missense variants may exert toxic gain-of-function.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg677Trp) interfere with wild-type RP1L1 function in CORD8.
View complete mutation data：
Gene Ontology (GO)
| • photoreceptor outer segment | • cilium |
| • protein binding | • phototransduction |
| • visual perception |
Pathways
• Phototransduction cascade
• Cilium assembly and maintenance
Protein Summary
RP1L1 is a 2,400-amino-acid protein predominantly expressed in the retina. It contains doublecortin-like domains and interacts with RP1 to stabilize microtubules in the photoreceptor connecting cilium. The protein is critical for the structural integrity of outer segments; its absence leads to disorganized discs and progressive retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RP1L1 Knockout HEK293 Cell Line | EDJ-KQ11296 | Human | 94137 | Details Get a Quote |
| RP1L1 Knockout HeLa Cell Line | EDJ-KQ57883 | Human | 94137 | Details Get a Quote |
| RP1L1 Knockout A-549 Cell Line | EDJ-KQ66378 | Human | 94137 | Details Get a Quote |
| RP1L1 Knockout HCT 116 Cell Line | EDJ-KQ74802 | Human | 94137 | Details Get a Quote |
