Retinoschisin

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RS1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases RS1, RS, XLretinoschisin 1
External IDs MGI: 1336189 HomoloGene: 279 GeneCards: RS1
Gene location (Human)
X chromosome (human)
Chr. X chromosome (human)[1]
X chromosome (human)
Genomic location for RS1
Genomic location for RS1
Band Xp22.13 Start 18,639,910 bp[1]
End 18,672,109 bp[1]
RNA expression pattern
PBB GE RS1 216937 s at fs.png

PBB GE RS1 207363 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Retinoschisin also known as X-linked juvenile retinoschisis protein is a protein that in humans is encoded by the RS1 gene.[5][6][7]

Function and Cell Biology[edit]

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.[7] Monomeric retinoschisin contains 224 amino acids with a leader sequence that is cleaved off upon preparation in the cell for secretion.[5]

Clinical significance[edit]

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.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000102104 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031293 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ a b Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BH (Nov 1997). "Positional cloning of the gene associated with X-linked juvenile retinoschisis". Nat Genet. 17 (2): 164–70. PMID 9326935. doi:10.1038/ng1097-164. 
  6. ^ Molday LL, Wu WW, Molday RS (Nov 2007). "Retinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to the surface of retinal photoreceptor and bipolar cells through its interactions with a Na/K ATPase-SARM1 complex". J Biol Chem. 282 (45): 32792–801. PMID 17804407. doi:10.1074/jbc.M706321200. 
  7. ^ a b c "Entrez Gene: RS1 retinoschisis (X-linked, juvenile) 1". 

Further reading[edit]

External links[edit]

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