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FLASH GENE
Symbol RS1 contributors: shn - updated : 17-04-2012
HGNC name retinoschisin 1
HGNC id 10457
Corresponding disease
RS1 X-linked juvenil retinoschisis
Location Xp22.13      Physical location : 18.657.809 - 18.690.223
Synonym name X-linked juvenile retinoschisis protein
Synonym symbol(s) XLRS1, XL, RS
DNA
TYPE functioning gene
SPECIAL FEATURE overlapping, gene in gene, opposite orientation
STRUCTURE 32.42 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site
text structure
  • STK9, exon 17 to 20 in 3'utr, exon 4 and 3 of RS1
  • two CRE (CRX-responsive elements) sites in the minimal RS1 promoter region control retinal RS1 expression and establish CRX as a key factor driving this expression
  • MAPPING cloned Y linked   status confirmed
    Map qter - DXS8019 - DXS1195 - RS1 RS1 - DXS999 - DXS7163 - cen
    Physical map
    FIGF Xp22.1 c-fos induced growth factor (vascular endothelial growth factor D) PIR Xp22.31 c-fos induced growth factor (vascular endothelial growth factor D) BMX Xp22.2 BMX non-receptor tyrosine kinase ACE2 Xp22 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 NX17 Xp22 kidney-specific membrane protein LOC340591 Xp22.31 similar to carbonic anhydrase VB, mitochondrial precursor; carbonic dehydratase CA5B Xp22.1 carbonic anhydrase VB, mitochondrial U2AF1L2 Xp22.1 U2(RNU2) small nuclear RNA auxiliary factor 1-like 2 AP1S2 Xp36.3-p21.3 adaptor-related protein complex 1, sigma 2 subunit GRPR Xp22.2-p22.13 gastrin-releasing peptide receptor LOC139451 Xp22.22 similar to melanoma antigen, family B, 4; melanoma-associated antigen B4 LOC139452 Xp22.22 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) LOC392429 X similar to Hspcb protein CTPS2 Xp22 CTP synthase II CALB3 Xp22.2 calbindin 3, (vitamin D-dependent calcium binding protein) SYAP1 Xp22.31 synapse associated protein 1, SAP47 homolog (Drosophila) CXorf15 Xp22.22 chromosome X open reading frame 15 RBBP7 Xp22.31 retinoblastoma binding protein 7 RNU4P6 Xp22.22 RNA, U4 small nuclear pseudogene 6 REPS2 Xp22.22 RALBP1 associated Eps domain containing 2 PRO0386 Xp22.22 hypothetical protein PRO0386 NHS Xp22.13 Nance-Horan syndrome (congenital cataracts and dental anomalies) SCML1 Xp22 sex comb on midleg-like 1 (Drosophila) LOC392430 X similar to dJ40E16.3 (novel gene similar to D. melanogaster CG5327 ) RAI2 Xp22 retinoic acid induced 2 LOC392431 X similar to Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse) MGC33653 Xp22.22 hypothetical protein MGC33653 SCML2 Xp22 sex comb on midleg-like 2 (Drosophila) CDKL5 Xp22 cyclin-dependent kinase-like 5 RS1 Xp22.2 retinoschisis (X-linked, juvenile) 1 PPEF1 Xp22.2-p22.1 protein phosphatase, EF hand calcium-binding domain 1 PHKA2 Xp22.2-p22.13 phosphorylase kinase, alpha 2 (liver) GPR64 Xp22.22 G protein-coupled receptor 64 PDHA1 Xp22.1 pyruvate dehydrogenase (lipoamide) alpha 1 LOC389840 X similar to MAP/ERK kinase kinase 5; apoptosis signal regulating kinase SH3KBP1 Xp22.3-p11.3 SH3-domain kinase binding protein 1 LOC256643 Xp22.13 hypothetical protein LOC256643 FLJ14503  hypothetical protein FLJ14503 EIF1A Xp22.1 eukaryotic translation initiation factor 1A RPS6KA3 Xp22.13 ribosomal protein S6 kinase, 90kDa, polypeptide 3 CNK2 Xp22.13 ribosomal protein S6 kinase, 90kDa, polypeptide 3 FLJ34960 Xp22.13 hypothetical protein FLJ34960 SMPX Xp22.1 small muscle protein, X-linked MBTPS2 Xp22.1-p22.2 membrane-bound transcription factor protease, site 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 3040 28 224 . retina: photoreceptors layer, inner nuclear layer, inner plexiform layer and in the ganglion cell layer . pineal gland 2006 17093404
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbraindiencephalonepithalamuspineal glandhighly Homo sapiens
    Visualeyeretina    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualamacrine cell
    Visualbipolar cell
    Visualcone photoreceptor Homo sapiens
    Visualhorizontal association cell
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines retinoblastoma cells (Weri-Rb1 cells)
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye, retina, anterior segment
    PROTEIN
    PHYSICAL PROPERTIES globular
    STRUCTURE
    motifs/domains
  • two functional sites of conserved sequence motifs, the N-terminus signal sequence (aa 1&
  • 8722;21/23)
  • and a long and evolutionarily conserved sequence motif termed the discoidin domain (DS; aa 64&
  • 8722;219) implicated in cell adhesion and regulatory signaling processes
  • a signal peptide
  • ten cysteine residues
  • mono polymer homomer , octamer , oligo
    HOMOLOGY
    interspecies ortholog to Rs1, Mus musculus
    homolog to fish rs1 (69.3pc)
    ortholog to RS1, Pan troglodytes
    ortholog to Rs1, Rattus norvegicus
    intraspecies homolog to F5, F8C, MFGE8
    Homologene
    FAMILY
    CATEGORY adhesion , secretory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text
  • peripheral membrane protein bound by ionic forces to the outer leaflet of the photoreceptor inner segment plasma membrane
  • primarily localized on the outer surface of the inner segments of cones and rods as well as the outer nuclear and outer plexiform layers of the retina
  • basic FUNCTION
  • play an important role in the development and maintenance of retinal cytoarchitecture
  • potentially involved in phospholipid binding and cell-cell interactions
  • mediating interactions/adhesion between photoreceptor, bipolar, and Muller cells, contributing to the maintenance of the cytoarchitectural integrity of the retina
  • functioning as an adhesive protein in preserving the structural and functional integrity of the retina
  • having a functional role locally at the site of secretion and the association with the membrane is necessary for maintaining the stability and architecture of the photoreceptor inner segment
  • interactions between L-VGCC-alpha 1 subunits and retinoschisin play an important role in the membrane retention of L-VGCC-alpha 1 subunits and photoreceptor-bipolar synaptic transmission
  • has a role in the circadian regulation of L-type VGCCs
  • in retinal cell layer organization and synaptic structure
  • in the retina, functions as an adhesion molecule to preserve the structural organization of the retinal cell layers, a critical factor for promoting visual signal transduction
  • having direct and specific effect on anionic lipid bilayers containing PS in the presence of Ca2++
  • having dual functionality, as a cell-adhesion molecule and also as a regulatory accessory of several membrane protein assemblies
  • important for the maintenance of retinal cell integrity
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • associated with a complex consisting of N/K ATPase and SARM1
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SARM1
  • L-type Voltage-gated calcium channels in the retina
  • phosphatidylserine in the retinal cell plasma membranes in a calcium-dependent manner (
  • ATP1A3 and ATP1B2 (
  • cell & other
  • bipolar and Müller cells
  • REGULATION
    induced by L-type VGCCs
    ASSOCIATED DISORDERS
    corresponding disease(s) RS1
    related resource X-Linked Juvenile Retinoschisis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Pathologic changes in hemizygous Rs1h(-/Y) male mice are a marked splitting of the inner nuclear layer, a disorganization of the retinal cell layers, and a later degeneration of the photoreceptors whitch is more pronounced in cones
  • Rs1h-KO mice display a thinned and disorganized outer nuclear layer, rod outer segments are misaligned and abundant schisis cavities spanned the inner nuclear, ERG a- and b-wave amplitudes are reduced by 33% and 50%, respectively