AlphaFold predicted structure
RS1 · O15537
Mean pLDDT
72.7/ 100
Confident
224 residues
Confidence breakdown
- Very high(≥ 90)29%
- Confident(70–90)40%
- Low(50–70)5%
- Very low(< 50)27%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
RS1
Chr Xp22.13retinoschisin 1
- Aliases:
- XLRS1
- MANE:
- ENST00000379984.4
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Retinal disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Glaucoma (developmental)
Structural eye disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Disease associations (Open Targets)
X-linked retinoschisis
0.83retinoschisis
0.61Retinal dystrophy
0.57developmental and epileptic encephalopathy, 2
0.48hereditary disease
0.47retinal disorder
0.45eye disorder
0.37intellectual disability - sparse hair - brachydactyly
0.27intellectual disability-sparse hair-brachydactyly syndrome
0.27Angelman syndrome
0.19
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Retinoschisin
Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (By similarity). May play a role in cell-cell adhesion processes in the retina, via homomeric interaction between octamers present on the surface of two neighboring cells (PubMed:27114531). Required for normal structure and function of the retina (PubMed:19093009)
Diseases associated with RS1
Curated MONDO disease pages that list RS1 among their top associated genes.