Retinoschisin

RS1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3JD6
Identifiers
Aliases	RS1, RS, XLretinoschisin 1
External IDs	OMIM: 300839; MGI: 1336189; HomoloGene: 279; GeneCards: RS1; OMA:RS1 - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	18,672,108 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	159,582,659 bp
RNA expression pattern
	Top expressed in
	testicle; ; oocyte; ; secondary oocyte; ; upper lobe of left lung; ; lower lobe of lung; ; right lung; ; prefrontal cortex; ; retinal pigment epithelium; ; primary visual cortex; ; right lobe of thyroid gland;
	Top expressed in
	neural layer of retina; ; retinal pigment epithelium; ; epithelium of lens; ; ciliary body; ; iris; ; tibiofemoral joint; ; morula; ; embryo; ; tail of embryo; ; pineal gland;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	phosphatidylinositol-4-phosphate binding; phosphatidylinositol-5-phosphate binding; phosphatidylinositol-4,5-bisphosphate binding; phosphatidylinositol-3-phosphate binding; phosphatidylinositol-3,4,5-trisphosphate binding; phosphatidylinositol-3,5-bisphosphate binding; phosphatidylinositol-3,4-bisphosphate binding; oligosaccharide binding; phosphatidylserine binding; lipid binding;
Cellular component	extracellular region; extrinsic component of plasma membrane; extracellular space; plasma membrane; membrane;
Biological process	multicellular organism development; cell adhesion; retina layer formation; response to stimulus; adaptation of rhodopsin mediated signaling; visual perception; protein homooligomerization;
	Sources:Amigo / QuickGO
Orthologs
	6247
	20147
	ENSG00000102104
	ENSMUSG00000031293
	O15537
	Q9Z1L4
	NM_000330
	NM_011302
	NP_000321
	NP_035432
	Wikidata
View/Edit Human	View/Edit Mouse

Retinoschisin also known as X-linked juvenile retinoschisis protein is a lectin that in humans is encoded by the RS1 gene.

It is a soluble, cell-surface protein that plays an important role in the maintenance of the retina where it is expressed and secreted by retinal bipolar cells and photoreceptors, as well as in the pineal gland. Retinoschisin (RS1) is encoded by the gene RS1 located on the X chromosome at p22.1. Young males who have an RS1 mutation are susceptible to retinoschisis, and X-linked eye disease which causes macular degeneration and can lead to a loss of vision.