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Gene: RS1 (retinoschisin 1) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on RS1
Alliance Gene
NCBI 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



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