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RS1 Gene

protein-coding   GIFtS: 50
GCID: GC0XM018567

Retinoschisin 1

(Previous names: retinoschisis (X-linked, juvenile) 1)
(Previous symbol: RS)
  See RS1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Retinoschisin 11 2     Retinoschisis (X-Linked, Juvenile) 11
RS1 2     retinoschisin2
XLRS12 3     XL5
X-Linked Juvenile Retinoschisis Protein2 3     

External Ids:    HGNC: 104571   Entrez Gene: 62472   Ensembl: ENSG000001021047   OMIM: 3008395   UniProtKB: O155373   

Export aliases for RS1 gene to outside databases

Previous GC identifers: GC0XM018202 GC0XM017324 GC0XM017860 GC0XM018019 GC0XM018417 GC0XM016411


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 x-linked juvenile retinoschisis, and 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 DCBLD1.

UniProtKB/Swiss-Prot: XLRS1_HUMAN, O15537
Function: May be active in cell adhesion processes during retinal development

Gene Wiki entry for RS1 (Retinoschisin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the RS1 gene promoter:
         GCNF   CREB   RORalpha1   PPAR-gamma1   deltaCREB   GCNF-1   PPAR-gamma2   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRS1 promoter sequence
   Search Chromatin IP Primers for RS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.13   Ensembl cytogenetic band:  Xp22.13   HGNC cytogenetic band: Xp22.2-p22.1

RS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RS1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM018567:  view genomic region     (about GC identifiers)

Start:
18,657,808 bp from pter      End:
18,690,229 bp from pter
Size:
32,422 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: XLRS1_HUMAN, O15537 (See protein sequence)
Recommended Name: Retinoschisin precursor  
Size: 224 amino acids; 25592 Da
Subunit: Homooctamer of 4 homodimers; disulfide-linked
Developmental stage: Up-regulated during the differentiation of a retinoblastoma cell line
Secondary accessions: Q0QD39

Explore the universe of human proteins at neXtProt for RS1: NX_O15537

Explore proteomics data for RS1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000321.1  
    ENSEMBL proteins: 
     ENSP00000369320  

    RS1 Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for RS1 

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    RS1 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR000421 Coagulation_fac_5/8-C_type_dom
     IPR008979 Galactose-bd-like

    Graphical View of Domain Structure for InterPro Entry O15537

    ProtoNet protein and cluster: O15537

    1 Blocks protein domain: IPB000421 Coagulation factor 5/8 type C domain (FA58C)

    UniProtKB/Swiss-Prot: XLRS1_HUMAN, O15537
    Similarity: Contains 1 F5/8 type C domain


    Find genes that share domains with RS1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: XLRS1_HUMAN, O15537
    Function: May be active in cell adhesion processes during retinal development

         Genatlas biochemistry entry for RS1:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001786phosphatidylserine binding IEA--
    GO:0005546phosphatidylinositol-4,5-bisphosphate binding IEA--
    GO:0005547phosphatidylinositol-3,4,5-trisphosphate binding IEA--
    GO:0010314phosphatidylinositol-5-phosphate binding IEA--
    GO:0032266phosphatidylinositol-3-phosphate binding IEA--
         
    Find genes that share ontologies with RS1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for RS1:
     Increased cilium length after  

         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Rs1):
     nervous system  pigmentation  vision/eye 

    Find genes that share phenotypes with RS1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rs1tm1Sie for RS1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RS1

    miRNA
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    Block miRNA regulation of human, mouse, rat RS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RS1 (see all 30):
    hsa-miR-124* hsa-miR-579 hsa-miR-676 hsa-miR-607 hsa-miR-328 hsa-miR-125a-5p hsa-miR-15a hsa-miR-575
    SwitchGear 3'UTR luciferase reporter plasmidRS1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RS1

    Gene Editing
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    OriGene ORF clones in mouse, rat for RS1
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    Addgene plasmids for RS1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    XLRS1_HUMAN, O15537: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2
    endoplasmic reticulum1
    lysosome1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space TAS10915776
    GO:0019897extrinsic component of plasma membrane IEA--

    Find genes that share ontologies with RS1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RS1
    Interactions:

        GeneGlobe Interaction Network for RS1

    3 Interacting proteins for RS1 (O155373) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP1A3P136373I2D: score=1 
    ATP1B2P144153I2D: score=1 
    SARM1Q6SZW13I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0007275multicellular organismal development TAS9326935
    GO:0007601visual perception IEA--
    GO:0010842retina layer formation IEA--
    GO:0016062adaptation of rhodopsin mediated signaling IEA--

    Find genes that share ontologies with RS1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RS1 (XLRS1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RS1 gene: 
    NM_000330.3  

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379984(uc004cyo.3) ENST00000476595
    miRNA
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    Block miRNA regulation of human, mouse, rat RS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RS1 (see all 30):
    hsa-miR-124* hsa-miR-579 hsa-miR-676 hsa-miR-607 hsa-miR-328 hsa-miR-125a-5p hsa-miR-15a hsa-miR-575
    SwitchGear 3'UTR luciferase reporter plasmidRS1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RS1
    Predesigned siRNA for gene silencing in human, mouse, rat RS1
    Clone
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    OriGene clones in human, mouse for RS1 (see all 6)
    OriGene ORF clones in mouse, rat for RS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RS1 (NM_005544)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RS1
    Addgene plasmids for RS1 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for RS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RS1
      QuantiTect SYBR Green Assays in human, mouse, rat RS1
      QuantiFast Probe-based Assays in human, mouse, rat RS1

    Selected AceView cDNA sequences (see all 29):

    BQ638421 BM684015 BQ188000 BM719704 BM726308 BM680915 AL049684 BQ187374 
    AF014459 AA720929 BE501764 BM929702 BQ189047 BX279778 AA021019 BE501510 
    BM931553 BQ636812 CA393465 BQ183993 NM_000330 AW194878 BM683641 AA015909 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAAGAGCAC
    RS1 Expression
    About this image


    RS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Rod Cells Outer Nuclear Layer
             Retina
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
    RS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RS1 Protein Expression

    UniProtKB/Swiss-Prot: XLRS1_HUMAN, O15537
    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)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RS1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for RS1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rs11 , 5 retinoschisis (X-linked, juvenile) 1 (human)1, 5 88.54(n)1
    95.98(a)1
      X (73.95 cM)5
    201471  NM_011302.31  NP_035432.31 
     1607680135 
    chicken
    (Gallus gallus)
    Aves RS11 retinoschisin 1 78.47(n)
    81.34(a)
      772315  NM_001134975.1  NP_001128447.1 
    lizard
    (Anolis carolinensis)
    Reptilia RS16
    retinoschisin 1
    84(a)
    1 ↔ 1
    3(123020620-123024540)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rs11 retinoschisin 1 68.15(n)
    75.74(a)
      100124900  NM_001102849.1  NP_001096319.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rs1a1 retinoschisin 1a 70.83(n)
    70.19(a)
      445044  NM_001003438.2  NP_001003438.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RS1 gene
    DCBLD12  EDIL32  MFGE82  DCBLD22  F82  NRP12  NRP22  F52  
    9 SIMAP similar genes for RS1 using alignment to 2 protein entries:     XLRS1_HUMAN (see all proteins):
    MFGE8    F8A1    F8    F5    F8C    NRP2
    SPAG10    EDIL3    DCBLD2

    Find genes that share paralogs with RS1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RS1 (see all 456)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0082224
    Retinoschisis juvenile X-linked 1 (XLRS1)4--see VAR_0082222 C Y mis40--------
    VAR_0082554
    Retinoschisis juvenile X-linked 1 (XLRS1)4--see VAR_0082552 R H mis40--------
    VAR_0082174
    Retinoschisis juvenile X-linked 1 (XLRS1)4--see VAR_0082172 R Q mis40--------
    VAR_0082114
    Retinoschisis juvenile X-linked 1 (XLRS1)4--see VAR_0082112 C S mis40--------
    VAR_0082184
    Retinoschisis juvenile X-linked 1 (XLRS1)4--see VAR_0082182 L R mis40--------
    VAR_0082134
    Retinoschisis juvenile X-linked 1 (XLRS1)4--see VAR_0082132 G A mis40--------
    VAR_0653304
    Retinoschisis juvenile X-linked 1 (XLRS1)4--see VAR_0653302 R C mis40--------
    VAR_0081844
    Retinoschisis juvenile X-linked 1 (XLRS1)4--see VAR_0081842 R W mis40--------
    VAR_0082104
    Retinoschisis juvenile X-linked 1 (XLRS1)4--see VAR_0082102 L P mis40--------
    VAR_0082404
    Retinoschisis juvenile X-linked 1 (XLRS1)4--see VAR_0082402 W C mis40--------

    HapMap Linkage Disequilibrium report for RS1 (18657808 - 18690229 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6821CNV Insertion18451855
    esv33517CNV Loss17666407
    nsv528654CNV Gain19592680

    Human Gene Mutation Database (HGMD): RS1
    Locus Specific Mutation Databases (LSDB): RS1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 300839   
    OMIM disorders: 312700  
    UniProtKB/Swiss-Prot: XLRS1_HUMAN, O15537
  • 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for RS1:    
    About MalaCards
    x-linked juvenile retinoschisis    retinoschisis    retinal detachment

    2 diseases from the University of Copenhagen DISEASES database for RS1:
    Retinoschisis     Macular degeneration

    Find genes that share disorders with RS1           About GenesLikeMe

    7 Novoseek inferred disease relationships for RS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    juvenile retinoschisis 99 63 12746437 (3), 10450864 (2), 15531314 (2), 16900931 (2) (see all 37)
    retinopathy 44.2 3 15932525 (1), 16272055 (1), 18837956 (1)
    retinal detachment 41.1 2 19387072 (1)
    blindness 38.3 2 16900931 (1), 10051329 (1)
    retinal degeneration 38.3 3 20061330 (1), 17093404 (1)
    eye diseases 33.1 2 7558052 (1), 8607849 (1)
    retinitis pigmentosa 22.9 1 11139690 (1)

    Genatlas disease: RS1
    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

    GeneTests: RS1
    GeneReviews: RS1
    Genetic Association Database (GAD): RS1
    Human Genome Epidemiology (HuGE) Navigator: RS1 (12 documents)

    Export disorders for RS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RS1 gene, integrated from 10 sources (see all 128):
    (articles sorted by number of sources associating them with RS1)
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    1. Positional cloning of the gene associated with X-linked juvenile retinoschisis. (PubMed id 9326935)1, 2, 3, 9 Sauer C.G.... Weber B.H. (Nat. Genet. 1997)
    2. 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. (PubMed id 17804407)1, 3, 9 Molday L.L....Molday R.S. (J. Biol. Chem. 2007)
    3. Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. (PubMed id 10915776)1, 2, 9 Grayson C.... Trump D. (Hum. Mol. Genet. 2000)
    4. Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. (PubMed id 17615541)1, 2, 9 Li X.... Tao Y. (Mol. Vis. 2007)
    5. Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis. (PubMed id 17515881)1, 4, 9 Suganthalakshmi B....Sundaresan P. (Mol. Vis. 2007)
    6. Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. (PubMed id 10533068)1, 2, 9 Hiriyanna K.T.... Sieving P.A. (Hum. Mutat. 1999)
    7. Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene. (PubMed id 9760195)1, 2, 9 Hotta Y.... Azuma N. (Hum. Genet. 1998)
    8. Molecular genetic characteristics of X-linked retinoschisis in Koreans. (PubMed id 19390641)1, 4, 9 Kim S.Y....Park S.S. (Mol. Vis. 2009)
    9. Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. (PubMed id 10220153)1, 2, 9 Mashima Y.... Shimizu N. (Hum. Mutat. 1999)
    10. Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. (PubMed id 10450864)1, 2, 9 Gehrig A.... Weber B.H. (Clin. Genet. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6247 HGNC: 10457 AceView: RS1 Ensembl:ENSG00000102104 euGenes: HUgn6247
    ECgene: RS1 H-InvDB: RS1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RS1 Pharmacogenomics, SNPs, Pathways
    Mutations of the RS1 genehttp://www.retina-international.org/files/sci-news/xlrsmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=RS1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RS1 gene:
    Search GeneIP for patents involving RS1

    GeneCards and IP:
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