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Aliases for RS1 Gene

Aliases for RS1 Gene

  • Retinoschisin 1 2 3
  • X-Linked Juvenile Retinoschisis Protein 3 4
  • XLRS1 3 4
  • Retinoschisis (X-Linked, Juvenile) 1 2
  • Retinoschisin 3
  • RS 3
  • XL 6

External Ids for RS1 Gene

Previous HGNC Symbols for RS1 Gene

  • RS

Previous GeneCards Identifiers for RS1 Gene

  • GC0XM018202
  • GC0XM017324
  • GC0XM017860
  • GC0XM018019
  • GC0XM018417
  • GC0XM016411

Summaries for RS1 Gene

Entrez Gene Summary for RS1 Gene

  • 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]

GeneCards Summary for RS1 Gene

RS1 (Retinoschisin 1) is a Protein Coding gene. Diseases associated with RS1 include retinoschisis and x-linked juvenile retinoschisis. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and phosphatidylinositol-3-phosphate binding. An important paralog of this gene is NRP2.

UniProtKB/Swiss-Prot for RS1 Gene

  • May be active in cell adhesion processes during retinal development

Gene Wiki entry for RS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RS1 Gene

Genomics for RS1 Gene

Regulatory Elements for RS1 Gene

Genomic Location for RS1 Gene

18,639,688 bp from pter
18,672,109 bp from pter
32,422 bases
Minus strand

Genomic View for RS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RS1 Gene

Proteins for RS1 Gene

  • Protein details for RS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q0QD39

    Protein attributes for RS1 Gene

    224 amino acids
    Molecular mass:
    25592 Da
    Quaternary structure:
    • Homooctamer of 4 homodimers; disulfide-linked.

neXtProt entry for RS1 Gene

Proteomics data for RS1 Gene at MOPED

Post-translational modifications for RS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RS1 Gene

Domains for RS1 Gene

Suggested Antigen Peptide Sequences for RS1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 F5/8 type C domain.
  • Contains 1 F5/8 type C domain.
genes like me logo Genes that share domains with RS1: view

No data available for Gene Families for RS1 Gene

Function for RS1 Gene

Molecular function for RS1 Gene

GENATLAS Biochemistry:
X-linked retinoschisis 1,exclusively expressed in the retina,homolog to Dictyostelium discoideum,F5,F8C,MFGE8,potentially involved in phospholipid binding and cell-cell interactions
UniProtKB/Swiss-Prot Function:
May be active in cell adhesion processes during retinal development

Gene Ontology (GO) - Molecular Function for RS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IEA --
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IEA --
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IEA --
GO:0010314 phosphatidylinositol-5-phosphate binding IEA --
GO:0032266 phosphatidylinositol-3-phosphate binding IEA --
genes like me logo Genes that share ontologies with RS1: view

Phenotypes for RS1 Gene

genes like me logo Genes that share phenotypes with RS1: view

Animal Models for RS1 Gene

MGI Knock Outs for RS1:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RS1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for RS1 Gene

Localization for RS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RS1 Gene


Subcellular locations from

Jensen Localization Image for RS1 Gene COMPARTMENTS Subcellular localization image for RS1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for RS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region --
GO:0005615 extracellular space TAS 10915776
GO:0019897 extrinsic component of plasma membrane IEA --
genes like me logo Genes that share ontologies with RS1: view

Pathways for RS1 Gene

SuperPathways for RS1 Gene

No Data Available

Interacting Proteins for RS1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000369320 O15537-XLRS1_HUMAN for RS1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for RS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007275 multicellular organismal development TAS 9326935
GO:0007601 visual perception IEA --
GO:0010842 retina layer formation IEA --
GO:0016062 adaptation of rhodopsin mediated signaling IEA --
genes like me logo Genes that share ontologies with RS1: view

No data available for Pathways by source for RS1 Gene

Transcripts for RS1 Gene

mRNA/cDNA for RS1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(29) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RS1 Gene

Retinoschisin 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RS1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RS1 Gene

No ASD Table

Relevant External Links for RS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RS1 Gene

mRNA expression in normal human tissues for RS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RS1 Gene

This gene is overexpressed in Lung (7.1), Brain - Cortex (5.7), Brain - Anterior cingulate cortex (BA24) (5.5), Brain - Frontal Cortex (BA9) (5.3), Brain - Putamen (basal ganglia) (4.9), and Brain - Caudate (basal ganglia) (4.4).

Protein differential expression in normal tissues for RS1 Gene

This gene is overexpressed in Retina (47.8) and Vitreous humor (21.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RS1 Gene

SOURCE GeneReport for Unigene cluster for RS1 Gene Hs.715725

mRNA Expression by UniProt/SwissProt for RS1 Gene

Tissue specificity: Restricted to the retina (at protein level). At the mRNA level, detected only within the photoreceptor cell layer, most prominently within the inner segments of the photoreceptors. Undetectable in the inner plexiform layers and the inner nuclear layer. At the protein level, found in the inner segment of the photoreceptors, the inner nuclear layer, the inner plexiform layer and the ganglion cell layer. At the macula, expressed in both the outer and inner nuclear layers and in the inner plexiform layer (at protein level).
genes like me logo Genes that share expressions with RS1: view

Expression partners for RS1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

Orthologs for RS1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia RS1 35
  • 90.18 (n)
  • 95.54 (a)
RS1 36
  • 96 (a)
(Mus musculus)
Mammalia Rs1 35
  • 88.54 (n)
  • 95.98 (a)
Rs1 16
Rs1 36
  • 96 (a)
(Rattus norvegicus)
Mammalia Rs1 35
  • 88.99 (n)
  • 96.43 (a)
(Bos Taurus)
Mammalia RS1 36
  • 90 (a)
(Monodelphis domestica)
Mammalia RS1 36
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia RS1 36
  • 61 (a)
(Pan troglodytes)
Mammalia RS1 36
  • 100 (a)
(Gallus gallus)
Aves RS1 35
  • 78.47 (n)
  • 81.34 (a)
RS1 36
  • 79 (a)
(Anolis carolinensis)
Reptilia RS1 36
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rs1 35
  • 68.15 (n)
  • 75.74 (a)
(Danio rerio)
Actinopterygii rs1a 35
  • 70.83 (n)
  • 70.19 (a)
rs1a 36
  • 64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2640 36
  • 16 (a)
Species with no ortholog for RS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RS1 Gene

Gene Tree for RS1 (if available)
Gene Tree for RS1 (if available)

Paralogs for RS1 Gene

Paralogs for RS1 Gene

(9) SIMAP similar genes for RS1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with RS1: view

Variants for RS1 Gene

Sequence variations from dbSNP and Humsavar for RS1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs763051 -- 18,655,587(+) CTCCA(C/T)GTGAT intron-variant
rs763052 -- 18,656,054(+) GTGGT(A/G)CGATC intron-variant
rs916306 -- 18,654,169(+) TTGGT(G/T)GGGGG intron-variant
rs916307 -- 18,654,188(+) CTCTG(G/T)CTGTT intron-variant
rs916308 -- 18,654,301(+) AGGCA(C/T)ATGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RS1 Gene

Variant ID Type Subtype PubMed ID
nsv6821 CNV Insertion 18451855
nsv528654 CNV Gain 19592680
esv33517 CNV Loss 17666407

Relevant External Links for RS1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RS1 Gene

Disorders for RS1 Gene

(1) OMIM Diseases for RS1 Gene (300839)


  • Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]: A vitreo-retinal dystrophy characterized by macular pathology and by splitting of the superficial layer of the retina. Macular changes are present in almost all cases. In the fundi, radially oriented intraretinal foveomacular cysts are seen in a spoke-wheel configuration, with the absence of foveal reflex in most cases. In addition, approximately half of cases have bilateral peripheral retinoschisis in the inferotemporal part of the retina. Aside from the typical fundus appearance, strabismus, nystagmus, axial hyperopia, defective color vision and foveal ectopy can be present. The most important complications are vitreous hemorrhage, retinal detachment, and neovascular glaucoma. {ECO:0000269 PubMed:10079181, ECO:0000269 PubMed:10220153, ECO:0000269 PubMed:10234514, ECO:0000269 PubMed:10450864, ECO:0000269 PubMed:10533068, ECO:0000269 PubMed:17304551, ECO:0000269 PubMed:17615541, ECO:0000269 PubMed:19093009, ECO:0000269 PubMed:9326935, ECO:0000269 PubMed:9760195, ECO:0000269 Ref.10}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for RS1 Gene

(7) Novoseek inferred disease relationships for RS1 Gene

Disease -log(P) Hits PubMed IDs
juvenile retinoschisis 99 50
retinopathy 44.2 3
retinal detachment 41.1 1
blindness 38.3 2
retinal degeneration 38.3 2

Genatlas disease for RS1 Gene

retinoschisis,juvenile form characterized by schisis or splitting of the nerve fiber and ganglion cell layers of the retina causing progressive blindness in males. Excluding the sporadic senile form

Relevant External Links for RS1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with RS1: view

Publications for RS1 Gene

  1. Positional cloning of the gene associated with X-linked juvenile retinoschisis. (PMID: 9326935) Sauer C.G. … Weber B.H. (Nat. Genet. 1997) 2 3 4 23
  2. Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene. (PMID: 9760195) Hotta Y. … Azuma N. (Hum. Genet. 1998) 3 4 23
  3. Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis. (PMID: 10079181) Shastry B.S. … Trese M.T. (Biochem. Biophys. Res. Commun. 1999) 3 4 23
  4. Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. (PMID: 10220153) Mashima Y. … Shimizu N. (Hum. Mutat. 1999) 3 4 23
  5. Three widespread founder mutations contribute to high incidence of X- linked juvenile retinoschisis in Finland. (PMID: 10234514) Huopaniemi L. … Alitalo T. (Eur. J. Hum. Genet. 1999) 3 4 23

Products for RS1 Gene

Sources for RS1 Gene

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