RS1 (Retinoschisin 1) Gene
Genetic and Functional Insights into Retinoschisin 1
Gene Information Card
| Symbol | RS1 |
|---|---|
| Full Name | Retinoschisin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.13 |
| NCBI Gene ID | 6247 ncbi.nlm.nih.gov/gene/6247 |
| Ensembl ID | ENSG00000102144 |
| UniProt ID | P41221 |
| OMIM ID | 300839 |
| HGNC ID | 10457 |
| Aliases | XLRS1, retinoschisin |
Description
The RS1 gene encodes retinoschisin, a secreted cell adhesion protein essential for the structural integrity of the retina. It is primarily expressed in photoreceptor and bipolar cells. Mutations in RS1 cause X-linked juvenile retinoschisis (XLRS), characterized by splitting of the retinal layers and vision loss.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked juvenile retinoschisis | Loss of retinoschisin disrupts retinal cell adhesion, leading to schisis (splitting) of the inner retinal layers | OMIM #312700; ClinVar; multiple publications |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High (nTPM not available for retina in GTEx; RNA-seq shows highest expression in retina) | High |
| Testis | 0.3 nTPM | Low |
| Brain | 0.1 nTPM | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | Not expressed | No detectable RS1 expression |
| Y79 (retinoblastoma) | Low | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214G>A (p.Glu72Lys) | Missense | Common | Disrupts disulfide bond formation, reduces secretion |
| c.325G>C (p.Glu109Gln) | Missense | Rare | Impairs protein folding and adhesion |
| c.498_499del (p.Arg167Glufs*2) | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most RS1 mutations result in loss of retinoschisin secretion or function, leading to XLRS.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; XLRS is X-linked recessive.
View complete mutation data：
Gene Ontology (GO)
| • Cell adhesion (GO:0007155) | • Extracellular region (GO:0005576) |
| • Protein homodimerization activity (GO:0042803) |
Pathways
• Retinoschisin-mediated cell adhesion in retina
Protein Summary
Retinoschisin is a 224-amino acid secreted protein containing a discoidin domain. It forms disulfide-linked homodimers and binds to cell surface receptors, maintaining retinal layer adhesion. Loss of function leads to schisis and retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RS1 Knockout HEK293 Cell Line | EDJ-KQ2347 | Human | 6247 | Details Get a Quote |
| RS1 Knockout HeLa Cell Line | EDJ-KQ54370 | Human | 6247 | Details Get a Quote |
| RS1 Knockout A-549 Cell Line | EDJ-KQ62865 | Human | 6247 | Details Get a Quote |
| RS1 Knockout HCT 116 Cell Line | EDJ-KQ71330 | Human | 6247 | Details Get a Quote |
