Affinage

RS1

Retinoschisin · UniProt O15537

Length
224 aa
Mass
25.6 kDa
Annotated
2026-06-10
100 papers in source corpus 14 papers cited in narrative 14 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

RS1 (retinoschisin) is a secreted retinal cell-adhesion protein produced by photoreceptors and bipolar cells that maintains the structural and synaptic integrity of the retina, and its disruption causes X-linked retinoschisis (PMID:11222545, PMID:15644328). It assembles into a disulfide-linked homo-octamer in which eight subunits are joined by Cys59–Cys223 intermolecular bonds and paired into dimers via Cys40–Cys40 bonds, with additional intramolecular disulfides governing folding; this assembly forms a cog-wheel of two stacked rings with the discoidin domain projecting outward, and its disruption by disease mutations is the molecular basis of disease (PMID:15644328, PMID:26812435). The secreted complex anchors to the photoreceptor and bipolar cell surface through interaction with a Na/K-ATPase (alpha3/beta2)–SARM1 complex (PMID:17804407), and murine RS1 additionally binds phosphatidylserine-containing membranes in a calcium-dependent manner (PMID:20677810). Disease mutations act by two routes: signal-sequence mutations abolish protein biosynthesis to yield a null phenotype, whereas discoidin-domain missense mutations cause misfolded, non-secreted intracellular aggregates (PMID:20809529, PMID:17525175). Functionally, RS1 sustains the photoreceptor–depolarizing bipolar cell synapse: its loss in Rs1-KO mice produces an electronegative ERG and progressive mislocalization of postsynaptic components including PSD95, mGluR6, and the mGluR6/TRPM1 signaling cascade (TRPM1, Gαo, Gβ5, RGS11), all of which are restored by AAV-mediated gene transfer even post-developmentally (PMID:15326152, PMID:18660429, PMID:26098217). Cell-type-specific rescue shows that RS1 expression in bipolar cells alone is sufficient to correct inner-retinal adhesion pathology (PMID:36227606), and RS1 transcription in photoreceptors and bipolar cells is driven by CRX binding to two conserved promoter elements (PMID:18927113).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 2001 High

    Established that RS1 is a secreted, disulfide-linked oligomeric protein assembled by photoreceptors and bipolar cells that associates with the cell surface, framing it as a candidate retinal adhesion molecule.

    Evidence Western blot, immunofluorescence, and transfected COS-1 cells

    PMID:11222545

    Open questions at the time
    • Precise oligomeric stoichiometry not yet defined
    • Surface binding partner unidentified
  2. 2004 High

    Demonstrated that RS1 loss causes a synaptic transmission deficit at the photoreceptor-bipolar synapse and that the defect is reversible by gene supplementation in the adult retina, establishing a post-developmental therapeutic window.

    Evidence Rs1h-KO mouse with AAV gene delivery, ERG, IHC, Western blot

    PMID:15326152

    Open questions at the time
    • Molecular mechanism linking RS1 loss to synaptic dysfunction not yet resolved
    • Identity of postsynaptic components affected unknown
  3. 2005 High

    Resolved the precise disulfide architecture of the RS1 homo-octamer, defining how subunits are covalently assembled and why disease mutations that disrupt bonding cause retinoschisis.

    Evidence SDS-PAGE, velocity sedimentation, mass spectrometry, disulfide mapping

    PMID:15644328

    Open questions at the time
    • 3D spatial arrangement of subunits not yet visualized
    • Functional consequence of each disulfide on adhesion untested
  4. 2006 Medium

    Showed RS1 is expressed in pinealocytes but dispensable for pineal structure, indicating its retinal adhesion role is context-specific rather than a generic property.

    Evidence Northern blot, in situ hybridization, IHC, EM in Rs1-KO and WT mice

    PMID:17093404

    Open questions at the time
    • Pineal function of RS1 undefined
    • No mechanistic explanation for tissue-specific requirement
  5. 2007 High

    Identified the cell-surface receptor for RS1 as a Na/K-ATPase–SARM1 complex and excluded lipid binding as the anchoring mechanism, providing a molecular basis for membrane association.

    Evidence Co-IP, MS proteomics, Western blot, co-localization, lipid-binding assays

    PMID:17804407

    Open questions at the time
    • Functional role of SARM1 in this complex unclear
    • Reconciliation with later calcium-dependent lipid binding unresolved
  6. 2007 Medium

    Defined the discoidin domain as critical for folding and secretion by showing missense mutants form non-secreted aggregates, with most acting cell-autonomously rather than dominantly interfering with wild-type.

    Evidence Coexpression in EBNA293 cells, Western blot, co-IP, immunofluorescence

    PMID:17525175

    Open questions at the time
    • Single lab, two orthogonal methods
    • Structural basis of misfolding for each mutant not modeled
  7. 2008 High

    Linked RS1 loss to progressive postsynaptic disorganization by showing PSD95 and mGluR6 decline and mislocalize in the OPL, reversible by gene transfer, connecting adhesion to synaptic maintenance.

    Evidence Immunofluorescence, immuno-EM, quantitative Western blot, ERG, AAV rescue in Rs1-KO mice

    PMID:18660429

    Open questions at the time
    • Causal chain from RS1 anchoring to PSD protein retention not delineated
    • Whether photoreceptor or bipolar RS1 drives the effect unclear
  8. 2008 High

    Identified CRX as the transcriptional driver of RS1 via two conserved promoter elements, explaining the photoreceptor/bipolar restricted expression of the gene.

    Evidence ChIP, site-directed mutagenesis, reporter assays, transgenic Xenopus

    PMID:18927113

    Open questions at the time
    • Additional transcriptional regulators not characterized
    • Mechanism of bipolar versus photoreceptor specificity within CRX program unclear
  9. 2010 Medium

    Distinguished two mutational mechanisms—signal-sequence mutations abolishing biosynthesis versus discoidin mutations causing intracellular retention—clarifying genotype-to-phenotype relationships.

    Evidence Expression analysis in COS-7 cells, Western blot, cellular fractionation

    PMID:20809529

    Open questions at the time
    • Single lab
    • In vivo consequences of each mechanism not compared
  10. 2010 Medium

    Showed murine RS1 binds phosphatidylserine bilayers calcium-dependently and embeds partially in the membrane, offering a lipid-interaction mode that contrasts with the earlier protein-receptor anchoring model.

    Evidence Atomic force microscopy with immunolabeling on supported lipid bilayers

    PMID:20677810

    Open questions at the time
    • Single biophysical method, single lab
    • Relationship to Na/K-ATPase–SARM1 anchoring unresolved
  11. 2012 Medium

    Revealed that RS1 loss delays maturation of rod outer segments and reduces CRX/NRL and transducin expression, extending RS1 function beyond synaptic adhesion to photoreceptor development.

    Evidence Transducin/arrestin translocation assay, Western blot, ROS morphometry in Rs1-KO mice

    PMID:22993419

    Open questions at the time
    • Mechanism linking RS1 to outer segment maturation unknown
    • Whether effect is direct or secondary to synaptic disruption unclear
  12. 2015 High

    Pinpointed the affected synaptic signaling module by showing progressive loss of the mGluR6/TRPM1 cascade from DBC dendritic tips, restorable by gene transfer, defining the functional readout of RS1 adhesion.

    Evidence IHC, ERG, patch clamp, AAV8-RS1 rescue in Rs1-KO mice

    PMID:26098217

    Open questions at the time
    • How RS1 physically retains the signaling complex at dendritic tips not established
    • Whether cascade loss is cause or consequence of structural disorganization unclear
  13. 2016 Medium

    Visualized the RS1 octamer as a cog-wheel of two stacked rings with the discoidin domain projecting outward, providing a structural framework for adhesion and disulfide-mediated assembly.

    Evidence Single-particle EM, 3D reconstruction, molecular modelling

    PMID:26812435

    Open questions at the time
    • No mutagenesis validation of the model
    • Receptor-bound or membrane-bound conformation not resolved
  14. 2022 Medium

    Demonstrated that RS1 expression in bipolar cells alone is sufficient to correct inner-retinal adhesion pathology, refining the cellular source requirement for therapeutic rescue.

    Evidence Cell-type-specific AAV delivery (mini-mGluR6/Ple155 promoters), IHC, OCT, ERG in Rs1-KO mice

    PMID:36227606

    Open questions at the time
    • Single lab
    • Relative contribution of photoreceptor-derived RS1 not directly quantified

Open questions

Synthesis pass · forward-looking unresolved questions
  • How the protein-receptor (Na/K-ATPase–SARM1) and calcium-dependent phosphatidylserine binding modes are integrated into a single anchoring mechanism, and how RS1 mechanistically retains postsynaptic signaling complexes at DBC dendritic tips, remain unresolved.
  • Conflicting anchoring models (receptor vs lipid) not reconciled
  • Molecular link between adhesion and mGluR6/TRPM1 retention unknown
  • Receptor-bound structure not determined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098631 cell adhesion mediator activity 3 GO:0008289 lipid binding 1
Localization
GO:0005886 plasma membrane 3 GO:0005576 extracellular region 2
Pathway
R-HSA-112316 Neuronal System 3 R-HSA-74160 Gene expression (Transcription) 1
Partners
ATP1A3ATP1B2CRXSARM1
Complex memberships
Na/K-ATPase–SARM1 anchoring complexRS1 homo-octamer

Evidence

Reading pass · 14 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2001 RS1 (retinoschisin) is expressed and assembled in photoreceptors and bipolar cells as a disulfide-linked oligomeric protein complex; the secreted complex associates with the surface of these cells, suggesting a role as a cell adhesion protein maintaining retinal integrity. Western blot analysis, immunofluorescence microscopy with specific antibodies, cell culture and transfected COS-1 cells Investigative ophthalmology & visual science High 11222545
2005 RS1 exists as a novel homo-octamer in which eight subunits are joined by Cys59–Cys223 intermolecular disulfide bonds; subunits are further organized into dimers via Cys40–Cys40 bonds; Cys63–Cys219 and Cys110–Cys142 form intramolecular disulfide bonds important for folding; Cys83 exists in reduced state. Disruption of this assembly by disease-causing mutations causes X-linked retinoschisis. SDS-PAGE, velocity sedimentation, mass spectrometry, disulfide bond mapping The Journal of biological chemistry High 15644328
2007 Retinoschisin (RS1) is anchored to the surface of retinal photoreceptor and bipolar cells through its interaction with a complex consisting of Na/K ATPase (alpha3, beta2 isoforms) and SARM1; RS1 does not bind phospholipids or retinal lipids. Co-immunoprecipitation, mass spectrometric proteomics, Western blotting, immunofluorescence double-labeling, lipid-binding assays The Journal of biological chemistry High 17804407
2010 RS1 signal-sequence mutations (c.1A>T, c.35T>A, c.38T>C, c.52G>A) abolish RS1 protein production by multiple mechanisms affecting biosynthesis, resulting in RS1-null phenotype; in contrast, discoidin-domain mutations produce nonfunctional conformational variants retained inside the cell rather than abolishing protein production. Expression analysis in COS-7 cells, Western blotting, cellular fractionation assays Human mutation Medium 20809529
2004 Loss of RS1 protein in Rs1h-KO mice results in an electronegative ERG waveform reflecting a synaptic transmission deficit at the photoreceptor-bipolar synapse; AAV-mediated delivery of Rs1h gene to the adult Rs1h-KO retina restores the normal ERG b-wave, demonstrating that RS1 function can be rescued post-developmentally. Knockout mouse model, AAV gene delivery, immunohistochemistry, Western blot, electroretinography Investigative ophthalmology & visual science High 15326152
2008 In Rs1-KO mouse retina, RS1 is normally associated with the outer surface of synaptic membranes; its loss results in progressive mislocalization and decline of postsynaptic density proteins PSD95 and mGluR6 in the outer plexiform layer between 1 and 12 months, correlating with ERG b-wave decline. AAV-Rs1 gene transfer restores PSD95 and mGluR6 expression and OPL structural integrity. Immunofluorescence, immuno-EM, quantitative Western blot, ERG, AAV gene therapy in Rs1-KO mice Investigative ophthalmology & visual science High 18660429
2015 In Rs1-KO mice, while initial photoreceptor-depolarizing bipolar cell (DBC) synapse development is normal, the mGluR6/TRPM1 signaling cascade (TRPM1 channel, Gαo, Gβ5, RGS11) is progressively lost from postsynaptic DBC dendritic tips; AAV8-RS1 gene transfer restores these signaling molecules to their proper dendritic tip location and restores DBC resting membrane potential. Immunohistochemistry, electrophysiology (ERG, patch clamp), AAV8-RS1 gene delivery, Rs1-KO mouse model The Journal of clinical investigation High 26098217
2010 Murine retinoschisin (Rs1) binds to negatively charged lipid bilayers (phosphatidylserine-containing) in a calcium-dependent manner, becoming partially embedded in the bilayer; RS1 localizes to the calcium-rich ordered phase of PS bilayers. Atomic force microscopy (AFM), immunolabeling of Rs1 on supported lipid bilayers Biochemistry Medium 20677810
2016 Single-particle electron microscopy reveals that RS1 octamers form a cog-wheel structure of two stacked rings, with the discoidin domain projecting outward and the RS1 domain plus C-terminal segment (containing intermolecular disulfide bonds) forming the inner core. 3D reconstruction and molecular modelling established subunit arrangement. Single-particle electron microscopy, 3D reconstruction, molecular modelling PloS one Medium 26812435
2012 Loss of RS1 in Rs1-KO mice elevates the luminance threshold for light-driven transducin translocation (10-fold higher than WT at P21) without affecting arrestin translocation, indicating delayed structural and functional maturation of rod outer segments; transcription factors CRX and NRL and transducin expression are reduced at P21 in Rs1-KO rods. Immunofluorescence (transducin/arrestin translocation assay), Western blot, rod outer segment morphometry in Rs1-KO mice The Journal of neuroscience Medium 22993419
2007 Disease-causing RS1 missense mutants (C59S, D158N, C142W, C142S, T185K, R141G) form abnormal intracellular aggregates and are not secreted; when coexpressed with wild-type RS1, the wild-type protein assembles and secretes independently of all mutants except R141H (which interferes with wild-type secretion). The discoidin domain is critical for proper folding and secretion. Coexpression in EBNA293 cells, Western blotting, coimmunoprecipitation, immunofluorescence Investigative ophthalmology & visual science Medium 17525175
2008 CRX (cone-rod homeobox protein) binds to two conserved CRX-responsive elements (CREs) in the proximal RS1 promoter (-177/+32) and is required for retinal RS1 expression; CRX co-activators CBP, P300, GCN5, and acetylated histone H3 are associated with the RS1 promoter in vivo. Mutation of either CRE site strongly decreases RS1 expression in photoreceptors and bipolar cells. Chromatin immunoprecipitation (ChIP), site-directed mutagenesis, reporter assays, transgenic Xenopus laevis Nucleic acids research High 18927113
2006 RS1 protein is expressed in pinealocytes (synaptophysin-positive) but not in interstitial GFAP/S100-positive glial cells; Rs1-KO mice show no structural abnormalities in the pineal gland despite RS1 expression there, indicating RS1 serves a different function in pineal than in retina. Northern blot, in situ hybridization, immunohistochemistry, electron microscopy in Rs1-KO and WT mice Molecular vision Medium 17093404
2022 Targeted RS1 gene expression specifically in bipolar cells (using mini-mGluR6 or Ple155 promoters) in the XLRS mouse retina, without photoreceptor RS1 expression, ameliorates retinoschisis structural pathology and improves inner retinal structure and synaptic function, demonstrating that RS1 in bipolar cells is sufficient for cell adhesion function in the inner retina. AAV-mediated cell-type-specific gene delivery, immunohistochemistry, OCT, ERG in Rs1-KO mice Investigative ophthalmology & visual science Medium 36227606

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2016 RS-1 enhances CRISPR/Cas9- and TALEN-mediated knock-in efficiency. Nature communications 324 26817820
2018 Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery. Molecular therapy : the journal of the American Society of Gene Therapy 212 30196853
2001 Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Investigative ophthalmology & visual science 184 11222545
2004 RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis. Investigative ophthalmology & visual science 173 15326152
2007 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. The Journal of biological chemistry 117 17804407
2001 DNA methylation is linked to deacetylation of histone H3, but not H4, on the imprinted genes Snrpn and U2af1-rs1. Molecular and cellular biology 111 11463825
2005 RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer. The Journal of biological chemistry 105 15644328
2015 Synaptic pathology and therapeutic repair in adult retinoschisis mouse by AAV-RS1 transfer. The Journal of clinical investigation 93 26098217
2008 Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery. Investigative ophthalmology & visual science 92 18660429
2005 X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. Journal of medical genetics 92 15937075
1997 Mouse U2af1-rs1 is a neomorphic imprinted gene. Molecular and cellular biology 85 9001233
2009 Whole genome sequence of Desulfovibrio magneticus strain RS-1 revealed common gene clusters in magnetotactic bacteria. Genome research 84 19675025
2000 Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. Archives of ophthalmology (Chicago, Ill. : 1960) 78 10922205
2004 The mouse Murr1 gene is imprinted in the adult brain, presumably due to transcriptional interference by the antisense-oriented U2af1-rs1 gene. Molecular and cellular biology 66 14673161
1999 Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave. American journal of ophthalmology 65 10458173
2016 Preclinical Dose-Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function. Human gene therapy 59 27036983
2011 X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects. Investigative ophthalmology & visual science 58 22039241
1995 Allele-specific methylation and expression of an imprinted U2af1-rs1 (SP2) gene. Nucleic acids research 53 7870588
2007 ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT. Documenta ophthalmologica. Advances in ophthalmology 51 17987333
1999 Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG. Documenta ophthalmologica. Advances in ophthalmology 50 10947001
2002 RS1 element of Vibrio cholerae can propagate horizontally as a filamentous phage exploiting the morphogenesis genes of CTXphi. Infection and immunity 47 11748178
1997 Parental chromosome-specific chromatin conformation in the imprinted U2af1-rs1 gene in the mouse. The Journal of biological chemistry 46 9252416
2010 Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. Human mutation 43 20809529
2014 Biodegradation of pyrene by a Pseudomonas aeruginosa strain RS1 isolated from refinery sludge. Bioresource technology 42 24951942
2006 Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout. Molecular vision 42 17093404
2014 Regulatory role of tetR gene in a novel gene cluster of Acidovorax avenae subsp. avenae RS-1 under oxidative stress. Frontiers in microbiology 41 25374564
2011 Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene. Investigative ophthalmology & visual science 41 22110067
2003 Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. The British journal of ophthalmology 41 12928282
2014 The RAD51-stimulatory compound RS-1 can exploit the RAD51 overexpression that exists in cancer cells and tumors. Cancer research 39 24753542
1999 Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. Human mutation 38 10533068
2006 RS1 (RSC1A1) regulates the exocytotic pathway of Na+-D-glucose cotransporter SGLT1. American journal of physiology. Renal physiology 36 16788146
2003 Downregulation of the Na(+)- D-glucose cotransporter SGLT1 by protein RS1 (RSC1A1) is dependent on dynamin and protein kinase C. The Journal of membrane biology 35 14724758
2000 Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families. Human mutation 35 11013441
2021 Immune function in X-linked retinoschisis subjects in an AAV8-RS1 phase I/IIa gene therapy trial. Molecular therapy : the journal of the American Society of Gene Therapy 33 33601057
2003 Novel type of specialized transduction for CTX phi or its satellite phage RS1 mediated by filamentous phage VGJ phi in Vibrio cholerae. Journal of bacteriology 33 14645284
1997 The human gene ZFP161 on 18p11.21-pter encodes a putative c-myc repressor and is homologous to murine Zfp161 (Chr 17) and Zfp161-rs1 (X Chr). Genomics 32 9244432
1994 Characterization and occurrence of two repeated palindromic DNA elements of Brucella spp.: Bru-RS1 and Bru-RS2. Molecular microbiology 31 7891556
1996 Inactive allele-specific methylation and chromatin structure of the imprinted gene U2af1-rs1 on mouse chromosome 11. Genomics 29 8661130
2016 Ocular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice. Molecular therapy. Methods & clinical development 28 27626041
2007 Tripeptides of RS1 (RSC1A1) inhibit a monosaccharide-dependent exocytotic pathway of Na+-D-glucose cotransporter SGLT1 with high affinity. The Journal of biological chemistry 28 17686765
1997 Aberrant methylation of an imprinted gene U2af1-rs1(SP2) caused by its own transgene. The Journal of biological chemistry 28 9083040
1995 Phylogenetic analysis of a novel sulfate-reducing magnetic bacterium, RS-1, demonstrates its membership of the delta-Proteobacteria. FEMS microbiology letters 28 7537237
1995 Isolation and mapping of human homologues of an imprinted mouse gene U2af1-rs1. Genomics 28 8586425
2020 Genetic Rescue of X-Linked Retinoschisis Mouse (Rs1-/y) Retina Induces Quiescence of the Retinal Microglial Inflammatory State Following AAV8-RS1 Gene Transfer and Identifies Gene Networks Underlying Retinal Recovery. Human gene therapy 27 33019822
2009 Proteomic analysis of irregular, bullet-shaped magnetosomes in the sulphate-reducing magnetotactic bacterium Desulfovibrio magneticus RS-1. Proteomics 27 19579222
2006 Transporter regulator RS1 (RSC1A1) coats the trans-Golgi network and migrates into the nucleus. American journal of physiology. Renal physiology 27 16788147
2002 Inhibition of histone deacetylases alters allelic chromatin conformation at the imprinted U2af1-rs1 locus in mouse embryonic stem cells. The Journal of biological chemistry 27 11821379
2000 X-linked retinoschisis with point mutations in the XLRS1 gene. Archives of ophthalmology (Chicago, Ill. : 1960) 27 10636421
1998 Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene. Human genetics 27 9760195
2007 Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. Molecular vision 26 17615541
2003 CTXphi-independent production of the RS1 satellite phage by Vibrio cholerae. Proceedings of the National Academy of Sciences of the United States of America 26 12529504
2001 The plasma membrane-associated protein RS1 decreases transcription of the transporter SGLT1 in confluent LLC-PK1 cells. The Journal of biological chemistry 26 11562363
1998 Association of a redefined proximal mouse chromosome 11 imprinting region and U2afbp-rs/U2af1-rs1 expression. Cytogenetics and cell genetics 25 9678333
1987 The RAD24 (= Rs1) gene product of Saccharomyces cerevisiae participates in two different pathways of DNA repair. Genetics 25 3549445
2020 RS-1 enhances CRISPR-mediated targeted knock-in in bovine embryos. Molecular reproduction and development 24 32227559
2015 Safety and Biodistribution Evaluation of rAAV2tYF-CB-hRS1, a Recombinant Adeno-Associated Virus Vector Expressing Retinoschisin, in RS1-Deficient Mice. Human gene therapy. Clinical development 24 26390091
2007 Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy. Investigative ophthalmology & visual science 24 17525175
2010 Classification of hybrid and altered Vibrio cholerae strains by CTX prophage and RS1 element structure. Journal of microbiology (Seoul, Korea) 23 20127474
2000 The oocyte-specific methylated region of the U2afbp-rs/U2af1-rs1 gene is dispensable for its imprinted methylation. Biochemical and biophysical research communications 23 10679248
2000 Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation. Ophthalmic genetics 23 11035549
2004 Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. American journal of ophthalmology 22 15531314
2000 [Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes]. Journal francais d'ophtalmologie 22 11139690
1999 Cloning and characterization of the transport modifier RS1 from rabbit which was previously assumed to be specific for Na+-D-glucose cotransport. Biochimica et biophysica acta 22 10076042
2015 Phosphorylation of RS1 (RSC1A1) Steers Inhibition of Different Exocytotic Pathways for Glucose Transporter SGLT1 and Nucleoside Transporter CNT1, and an RS1-Derived Peptide Inhibits Glucose Absorption. Molecular pharmacology 21 26464324
2004 Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations. Clinical & experimental ophthalmology 21 15281981
2012 Loss of retinoschisin (RS1) cell surface protein in maturing mouse rod photoreceptors elevates the luminance threshold for light-driven translocation of transducin but not arrestin. The Journal of neuroscience : the official journal of the Society for Neuroscience 20 22993419
2020 Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis. Molecular vision 19 32300273
2003 Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome. Ophthalmic research 19 12920343
2024 Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy. Stem cell research & therapy 18 38816767
2019 Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis. Human genome variation 18 30652005
2010 Retinoschisin (RS1) interacts with negatively charged lipid bilayers in the presence of Ca2+: an atomic force microscopy study. Biochemistry 18 20677810
2000 The transport modifier RS1 is localized at the inner side of the plasma membrane and changes membrane capacitance. Biochimica et biophysica acta 18 11018680
2021 Rs1h-/y exon 3-del rat model of X-linked retinoschisis with early onset and rapid phenotype is rescued by RS1 supplementation. Gene therapy 17 34548657
2016 Cog-Wheel Octameric Structure of RS1, the Discoidin Domain Containing Retinal Protein Associated with X-Linked Retinoschisis. PloS one 17 26812435
2013 Proteomic analysis of a high aluminum tolerant yeast Rhodotorula taiwanensis RS1 in response to aluminum stress. Biochimica et biophysica acta 16 23831152
1998 Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement. Investigative ophthalmology & visual science 16 9699564
2013 Complete mitochondrial genome of the aluminum-tolerant fungus Rhodotorula taiwanensis RS1 and comparative analysis of Basidiomycota mitochondrial genomes. MicrobiologyOpen 15 23427135
2008 CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene. Nucleic acids research 15 18927113
2001 Disruption of imprinted expression of U2afbp-rs/U2af1-rs1 gene in mouse parthenogenetic fetuses. The Journal of biological chemistry 15 11306578
1999 Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. Clinical genetics 15 10450864
2014 RS1 satellite phage promotes diversity of toxigenic Vibrio cholerae by driving CTX prophage loss and elimination of lysogenic immunity. Infection and immunity 14 24935981
2013 Characterizing the mode of action of Brevibacillus laterosporus B4 for control of bacterial brown strip of rice caused by A. avenae subsp. avenae RS-1. World journal of microbiology & biotechnology 14 23990042
2008 Molecular analysis of the XLRS1 gene in 4 females affected with X-linked juvenile retinoschisis. Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 14 18982040
2018 RS1 (Rsc1A1) deficiency limits cerebral SGLT1 expression and delays brain damage after experimental traumatic brain injury. Journal of neurochemistry 13 30022488
2017 Agro Waste Utilization for Cost-Effective Production of l-Asparaginase by Pseudomonas plecoglossicida RS1 with Anticancer and Acrylamide Mitigation Potential. ACS omega 13 30023574
2007 Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis. Molecular vision 13 17515881
1999 Skewed secondary sex ratio in the offspring of carriers of the 214G > A mutation of the RS1 gene. Annals of human genetics 13 11246454
1985 Structure and physical map of Rhodopseudomonas sphaeroides bacteriophage RS1 DNA. Journal of virology 13 2989552
2018 Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity? PloS one 12 29851975
2018 Biocontrol of Orchid-pathogenic Mold, Phytophthora palmivora, by Antifungal Proteins from Pseudomonas aeruginosa RS1. Mycobiology 12 29963314
2014 Inhibitory effect and mode of action of chitosan solution against rice bacterial brown stripe pathogen Acidovorax avenae subsp. avenae RS-1. Carbohydrate research 12 24785387
2009 Classical RS1 and environmental RS1 elements in Vibrio cholerae O1 El Tor strains harbouring a tandem repeat of CTX prophage: revisiting Mozambique in 2005. Journal of medical microbiology 12 20007761
1999 Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online. Human mutation 12 10220153
1999 Severe juvenile retinoschisis associated with a 33-bps deletion in XLRS1 gene. Ophthalmic genetics 12 10454824
2022 Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors. Investigative ophthalmology & visual science 11 36227606
2018 Genome Editing Method for the Anaerobic Magnetotactic Bacterium Desulfovibrio magneticus RS-1. Applied and environmental microbiology 11 30194101
2006 An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation. Vision research 11 16884758
2022 AAV2/4-RS1 gene therapy in the retinoschisin knockout mouse model of X-linked retinoschisis. PloS one 10 36477475
2017 A novel extracellular low-temperature active phytase from Bacillus aryabhattai RS1 with potential application in plant growth. Biotechnology progress 10 28248011
2012 Role of the transporter regulator protein (RS1) in the modulation of concentrative nucleoside transporters (CNTs) in epithelia. Molecular pharmacology 10 22492015

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