Retinoschisin

RS1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3JD6
Identifiers
Aliases	RS1, RS, XLretinoschisin 1
External IDs	MGI: 1336189 HomoloGene: 279 GeneCards: RS1
Gene location (Human) Chr. X chromosome (human) Band Xp22.13 Start 18,639,910 bp End 18,672,109 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band n/a Start 160,768,013 bp End 160,799,663 bp
RNA expression pattern 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 • cell 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
Species	Human	Mouse
Entrez	6247	20147
Ensembl	ENSG00000102104	ENSMUSG00000031293
UniProt	O15537	Q9Z1L4
RefSeq (mRNA)	NM_000330	NM_011302
RefSeq (protein)	NP_000321	NP_035432
Location (UCSC)	Chr X: 18.64 – 18.67 Mb	Chr X: 160.77 – 160.8 Mb
PubMed search

3JD6

6247

20147

ENSG00000102104

ENSMUSG00000031293

O15537

Q9Z1L4

NM_000330

NM_011302

NP_000321

NP_035432

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

Retinoschisin is an extracellular protein that plays a crucial role in the cellular organization of the retina. This protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Monomeric retinoschisin contains 224 amino acids with a leader sequence that is cleaved off upon preparation in the cell for secretion.

Mutations in this gene are responsible for X-linked retinoschisis an early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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