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Aliases for RS1 Gene

Aliases for RS1 Gene

  • Retinoschisin 1 2 3 5
  • X-Linked Juvenile Retinoschisis Protein 3 4
  • XLRS1 3 4
  • Retinoschisis (X-Linked, Juvenile) 1 2
  • Retinoschisin 3
  • RS 3

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 1, X-Linked, Juvenile and Fundus Dystrophy. Among its related pathways are Immune response IL-23 signaling pathway. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and phosphatidylinositol-3-phosphate binding. An important paralog of this gene is F5.

UniProtKB/Swiss-Prot for RS1 Gene

  • Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (By similarity). May play a role in cell-cell adhesion processes in the retina, via homomeric interaction between octamers present on the surface of two neighboring cells (PubMed:27114531). Required for normal structure and function of the retina (PubMed:19093009).

Gene Wiki entry for RS1 Gene

Additional gene information for RS1 Gene

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

Genomics for RS1 Gene

GeneHancer (GH) Regulatory Elements for RS1 Gene

Promoters and enhancers for RS1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI018672 Promoter 0.5 EPDnew 550.8 0.0 -19 0.1 RS1 TRV-TAC1-2
GH0XI018667 Enhancer 0.8 Ensembl ENCODE 0.8 +3.9 3899 1.7 ZNF687 CEBPB ATF2 ZNF664 MEF2D POLR2A HNF4A IKZF2 RUNX3 SPI1 RS1 PIR35788
GH0XI018640 Enhancer 0.4 ENCODE 0.3 +31.2 31223 0.2 POLR2A NRF1 MAX PIR35788 RS1 CDKL5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RS1 gene promoter:

Genomic Locations for RS1 Gene

Genomic Locations for RS1 Gene
32,422 bases
Minus strand

Genomic View for RS1 Gene

Genes around RS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:15644328, PubMed:19849666). The homooctamer has a flat, cogwheel structure with a diameter of about 14 nm (PubMed:27798099, PubMed:26812435, PubMed:27114531). Two stacked octamers can assemble to form a hexadecamer (PubMed:27798099, PubMed:26812435, PubMed:27114531).

    Three dimensional structures from OCA and Proteopedia for RS1 Gene

neXtProt entry for RS1 Gene

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 & Families for RS1 Gene

Gene Families for RS1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for RS1 Gene

Suggested Antigen Peptide Sequences for RS1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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:
Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (By similarity). May play a role in cell-cell adhesion processes in the retina, via homomeric interaction between octamers present on the surface of two neighboring cells (PubMed:27114531). Required for normal structure and function of the retina (PubMed:19093009).

Gene Ontology (GO) - Molecular Function for RS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding ISS --
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IEA --
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IEA --
GO:0008289 lipid binding IEA --
GO:0010314 phosphatidylinositol-5-phosphate binding IEA --
genes like me logo Genes that share ontologies with RS1: view
genes like me logo Genes that share phenotypes with RS1: view

Human Phenotype Ontology for RS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RS1 Gene

MGI Knock Outs for RS1:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RS1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for RS1 Gene

Localization for RS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RS1 Gene

Secreted. Cell membrane; Peripheral membrane protein; Extracellular side. Note=Binds to phosphatidylserine-containing lipid membranes and embeds itself partially into the lipid bilayer. Lipid-binding requires the presence of Ca(2+) ions. {ECO:0000250 UniProtKB:Q9Z1L4}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RS1 gene
Compartment Confidence
extracellular 5
plasma membrane 3
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for RS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space TAS,IDA 19849666
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0019897 extrinsic component of plasma membrane IEA --
genes like me logo Genes that share ontologies with RS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RS1 Gene

Pathways & Interactions for RS1 Gene

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

Pathways by source for RS1 Gene

1 BioSystems pathway for RS1 Gene

Interacting Proteins for RS1 Gene

Gene Ontology (GO) - Biological Process for RS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA,TAS --
GO:0007275 multicellular organism development TAS 9326935
GO:0007601 visual perception IMP,TAS 19093009
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 SIGNOR curated interactions for RS1 Gene

Drugs & Compounds for RS1 Gene

(4) Drugs for RS1 Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Brinzolamide Approved Pharma CA II inhibitor 63
Dorzolamide Approved Pharma 70
Antihypertensive Agents Pharma 4428
Carbonic Anhydrase Inhibitors Pharma 199
genes like me logo Genes that share compounds with RS1: view

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

Clone Products

  • Addgene plasmids for RS1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x7.1), Brain - Cortex (x5.7), Brain - Anterior cingulate cortex (BA24) (x5.5), Brain - Frontal Cortex (BA9) (x5.3), Brain - Putamen (basal ganglia) (x4.9), and Brain - Caudate (basal ganglia) (x4.4).

Protein differential expression in normal tissues from HIPED for RS1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RS1 Gene

Protein tissue co-expression partners for RS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RS1 Gene:


SOURCE GeneReport for Unigene cluster for RS1 Gene:


mRNA Expression by UniProt/SwissProt for RS1 Gene:

Tissue specificity: Restricted to the retina (at protein level) (PubMed:10915776). Detected in the inner segment of the photoreceptors, the inner nuclear layer, the inner plexiform layer and the ganglion cell layer (at protein level). At the macula, expressed in both the outer and inner nuclear layers and in the inner plexiform layer (at protein level) (PubMed:10915776). Detected in retina (PubMed:9326935). Detected only within the photoreceptor cell layer, most prominently within the inner segments of the photoreceptors (PubMed:10915776). Undetectable in the inner plexiform layers and the inner nuclear layer (PubMed:10915776).

Evidence on tissue expression from TISSUES for RS1 Gene

  • Eye(4.7)
  • Nervous system(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RS1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • peripheral nervous system
genes like me logo Genes that share expression patterns with RS1: view

Primer 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
(Pan troglodytes)
Mammalia RS1 34
  • 100 (a)
(Canis familiaris)
Mammalia RS1 33 34
  • 90.18 (n)
(Bos Taurus)
Mammalia RS1 34
  • 90 (a)
(Rattus norvegicus)
Mammalia Rs1 33
  • 88.99 (n)
(Mus musculus)
Mammalia Rs1 33 16 34
  • 88.54 (n)
(Monodelphis domestica)
Mammalia RS1 34
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia RS1 34
  • 61 (a)
(Gallus gallus)
Aves RS1 33 34
  • 78.47 (n)
(Anolis carolinensis)
Reptilia RS1 34
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rs1 33
  • 68.15 (n)
(Danio rerio)
Actinopterygii rs1a 33 34
  • 70.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2640 34
  • 16 (a)
Species where no ortholog for RS1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs104894928 not-provided, pathogenic, not provided, Juvenile retinoschisis, Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] 18,647,303(-) C/G/T coding_sequence_variant, missense_variant
rs104894929 pathogenic, Juvenile retinoschisis, Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] 18,642,012(-) A/G coding_sequence_variant, missense_variant
rs104894930 pathogenic, not-provided, Juvenile retinoschisis, not provided, Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] 18,642,071(-) G/A coding_sequence_variant, missense_variant
rs104894932 pathogenic, not-provided, Juvenile retinoschisis, not provided, Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] 18,647,301(-) C/G/T coding_sequence_variant, missense_variant, synonymous_variant
rs104894933 pathogenic, not-provided, Juvenile retinoschisis, not provided, Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] 18,647,296(-) C/A coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv33517 CNV loss 17666407
nsv528654 CNV gain 19592680
nsv6821 CNV insertion 18451855

Variation tolerance for RS1 Gene

Residual Variation Intolerance Score: 39.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RS1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for RS1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for RS1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RS1 in MalaCards View complete list of genes associated with diseases


  • 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:19849666, ECO:0000269 PubMed:27798099, ECO:0000269 PubMed:9326935, ECO:0000269 PubMed:9760195, ECO:0000269 Ref.14}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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

Additional Disease Information for RS1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 CG … Weber BH (Nature genetics 1997) 2 3 4 22 58
  2. Molecular genetic characteristics of X-linked retinoschisis in Koreans. (PMID: 19390641) Kim SY … Park SS (Molecular vision 2009) 3 22 44 58
  3. Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer. (PMID: 19849666) Gleghorn LJ … Bulleid NJ (The Biochemical journal 2009) 3 4 22 58
  4. Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. (PMID: 19093009) Lesch B … Farkas A (Molecular vision 2008) 3 4 22 58
  5. 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. (PMID: 17804407) Molday LL … Molday RS (The Journal of biological chemistry 2007) 2 3 22 58

Products for RS1 Gene

  • Addgene plasmids for RS1

Sources for RS1 Gene

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