RS1

GENE INFORMATION

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Gene name

RS1 (HGNC Symbol)

Synonyms

RS, XLRS1

Description

Retinoschisin 1 (HGNC Symbol)

Entrez gene summary

This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq, Oct 2008]

Chromosome

X

Cytoband

p22.13

Chromosome location (bp)

18658030 - 18690229

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000102104 (version 75.37)

Entrez gene

6247

UniProt

O15537 (UniProt - Evidence at protein level)

neXtProt

NX_O15537

Antibodypedia

RS1 antibodies
 

PROTEIN VIEW

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RS1-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

RS1-001 ENSP00000369320
ENST00000379984
O15537
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