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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 and Fundus Dystrophy. Among its related pathways are Immune response IL-23 signaling pathway. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and phosphatidylinositol-3-phosphate binding. An important paralog of this gene is EDIL3.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RS1 Gene

Genomics for RS1 Gene

Regulatory Elements for RS1 Gene

Enhancers for RS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG018667 0.9 Ensembl ENCODE 0.7 +3.9 3900 1.7 RFX1 BHLHE40 JUNB CEBPB BMI1 TBX21 ZNF664 MEF2D POLR2A SMARCA4 RS1 PIR35788
GH0XG018640 0.5 ENCODE 0.3 +31.2 31224 0.2 POLR2A NRF1 MAX PIR35788 RS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RS1 Gene

Chromosome:
X
Start:
18,639,688 bp from pter
End:
18,672,109 bp from pter
Size:
32,422 bases
Orientation:
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:
    O15537-XLRS1_HUMAN
    Recommended name:
    Retinoschisin
    Protein Accession:
    O15537
    Secondary Accessions:
    • Q0QD39

    Protein attributes for RS1 Gene

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

    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

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 Gene Families and 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:
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 ISS --
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
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
  • Applied Biological Materials Clones for RS1

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

Localization for RS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RS1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
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 IDA,TAS 19849666
GO:0019897 extrinsic component of plasma membrane IEA --
genes like me logo Genes that share ontologies with RS1: view

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 TAS,IEA --
GO:0007275 multicellular organism development TAS 9326935
GO:0007601 visual perception TAS,IMP 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 61
Dorzolamide Approved Pharma 68
Antihypertensive Agents Pharma 4207
Carbonic Anhydrase Inhibitors Pharma 186
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
  • Applied Biological Materials Clones 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
RS1
ECgene alternative splicing isoforms for
RS1

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:

RS1

SOURCE GeneReport for Unigene cluster for RS1 Gene:

Hs.715725

mRNA Expression by UniProt/SwissProt for RS1 Gene:

O15537-XLRS1_HUMAN
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).

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
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia RS1 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RS1 34 35
  • 90.18 (n)
cow
(Bos Taurus)
Mammalia RS1 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rs1 34
  • 88.99 (n)
mouse
(Mus musculus)
Mammalia Rs1 34 16 35
  • 88.54 (n)
oppossum
(Monodelphis domestica)
Mammalia RS1 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RS1 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves RS1 34 35
  • 78.47 (n)
lizard
(Anolis carolinensis)
Reptilia RS1 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rs1 34
  • 68.15 (n)
zebrafish
(Danio rerio)
Actinopterygii rs1a 34 35
  • 70.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2640 35
  • 16 (a)
OneToMany
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

ENSEMBL:
Gene Tree for RS1 (if available)
TreeFam:
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
rs104894928 Pathogenic, Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] 18,647,303(+) TGACT(C/G/T)GAAAC intron-variant, reference, missense
rs104894929 Pathogenic, Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] 18,642,012(+) GGCAC(A/G)CTTGC intron-variant, reference, missense
rs104894930 Pathogenic, Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] 18,642,071(+) CCAGC(A/G)GGATG intron-variant, reference, missense
rs104894932 Pathogenic, Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] 18,647,301(+) CCTGA(C/G/T)TCGAA intron-variant, reference, synonymous-codon, missense
rs104894933 Pathogenic, Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] 18,647,296(+) CCTCC(A/C)CTGAC intron-variant, reference, missense

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)

Relevant External Links for RS1 Gene

Human Gene Mutation Database (HGMD)
RS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RS1

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

Disorders for RS1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
retinoschisis
  • retinoschisis 1, x-linked, juvenile
fundus dystrophy
  • retinal dystrophy
bullous retinoschisis
retinal detachment
vitreoretinal dystrophy
  • vitreoretinal dystrophies
- elite association - COSMIC cancer census association via MalaCards
Search RS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

XLRS1_HUMAN
  • 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.

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)
RS1
Human Genome Epidemiology (HuGE) Navigator
RS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RS1
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 22 64
  2. Molecular genetic characteristics of X-linked retinoschisis in Koreans. (PMID: 19390641) Kim S.Y. … Park S.S. (Mol. Vis. 2009) 3 22 46 64
  3. Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. (PMID: 19093009) Lesch B. … Farkas A. (Mol. Vis. 2008) 3 4 22 64
  4. Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. (PMID: 17615541) Li X. … Tao Y. (Mol. Vis. 2007) 3 4 22 64
  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 L.L. … Molday R.S. (J. Biol. Chem. 2007) 2 3 22 64

Products for RS1 Gene

  • Addgene plasmids for RS1

Sources for RS1 Gene

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