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Gene: RS1 (retinoschisin 1) Homo sapiens
Symbol: RS1
Name: retinoschisin 1
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: retinoschisin; retinoschisis (X-linked, juvenile) 1; RS; X-linked juvenile retinoschisis protein; XLRS1
Mus musculus (house mouse) : Rs1 (retinoschisis (X-linked, juvenile) 1 (human))  MGI  Alliance
Rattus norvegicus (Norway rat) : Rs1 (retinoschisin 1)  Alliance
Pan paniscus (bonobo/pygmy chimpanzee) : RS1 (retinoschisin 1)
Canis lupus familiaris (dog) : RS1 (retinoschisin 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Rs1 (retinoschisin 1)
Sus scrofa (pig) : RS1 (retinoschisin 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X18,639,688 - 18,672,103 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X18,657,808 - 18,690,223 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X18,567,729 - 18,600,150 (-)NCBINCBI36hg18NCBI36
Build 34X18,417,466 - 18,449,886NCBI
CeleraX22,777,900 - 22,810,314 (-)NCBI
Cytogenetic MapXp22.13NCBI
HuRefX16,411,987 - 16,443,999 (-)NCBIHuRef
CHM1_1X18,688,889 - 18,721,309 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on RS1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1347162
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.