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Gene Review

RS1  -  retinoschisin 1

Homo sapiens

Synonyms: RS, Retinoschisin, X-linked juvenile retinoschisis protein, XLRS1
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Disease relevance of RS1


Psychiatry related information on RS1

  • The post-copulatory sexually refractory stage in the male cricket Gryllus bimaculatus consists of the two substages: the first refractory stage (RS1, time-variable) between copulation and spermatophore preparation, and the second refractory stage (RS2, time-constant) between spermatophore preparation and the recommencement of courtship [6].

High impact information on RS1

  • Mutational analyses of XLRS1 in affected individuals from nine unrelated RS families revealed one nonsense, one frameshift, one splice acceptor and six missense mutations segregating with the disease phenotype in the respective families [7].
  • The predicted XLRS1 protein contains a highly conserved motif implicated in cell-cell interaction and thus may be active in cell adhesion processes during retinal development [7].
  • Mapping and expression analysis of expressed sequence tags have identified a novel transcript, designated XLRS1, within the centromeric RS locus that is exclusively expressed in retina [7].
  • Deleterious mutations in RS1 encoding retinoschisin are associated with X-linked juvenile retinoschisis (RS), a common form of macular degeneration in males [8].
  • In toxigenic isolates of Vibrio cholerae, tandem arrays of prophage DNA, usually interspersed with the related genetic element RS1, are integrated site-specifically within the chromosome [9].

Chemical compound and disease context of RS1


Biological context of RS1


Anatomical context of RS1

  • The antisense riboprobe detected RS1 mRNA only in the photoreceptor layer but the protein product of the gene was present both in the photoreceptors and within the inner portions of the retina [2].
  • To test this hypothesis we have expressed seven pathological RS1 mutations (L12H, C59S, G70S, R102W, G109R, R141G and R213W) in COS-7 cells and investigated their intracellular processing and transport [13].
  • In addition, we show that L12H RS1 is degraded by proteasomes and in vitro transcription/translation revealed the defects in both cleavage of its signal peptide and translocation into the endoplasmic reticulum [13].
  • When polyclonal goat anti-AFP control was used as the test antibody, the distribution of amniotic fluid AFP was approximately 50%, 31%, 12%, and 7% for NR, WR, RS2, and RS1, respectively [14].
  • Voltage-clamp experiments in oocytes expressing hSGLT1 demonstrated that hRS1 reduced the maximal substrate-induced currents but did not change substrate activation, membrane potential dependence, Na(+) dependence or substrate selectivity of hSGLT1 [15].

Associations of RS1 with chemical compounds


Physical interactions of RS1

  • In addition, alignment of 5'-flanking sequences upstream of the human and mouse RS1 translation initiation sites identified putative binding sites for several transcription factors including CRX, a homeodomain transcription factor known to activate the transcription of several photoreceptor-specific genes [19].

Regulatory relationships of RS1

  • SGLT1 alone is able to translocate glucose together with sodium; however, RS1 increases the Vmax of transport expressed by SGLT1 [20].
  • The RS1 transplant induced overexpression of prolactin receptors in hepatocytes and increased their number in nuclei of these cells [21].

Other interactions of RS1

  • A region in the extracellular domain of DDR1 homologous to the Dictyostelium discoideum protein discoidin-I is also present in the secreted human protein RS1 [22].
  • We also reported that transport activities of human SGLT1 (hSGLT1) and human organic cation transporter hOCT2 expressed in Xenopus oocytes were decreased upon co-expression of human RS1 (hRS1) [15].
  • Under these conditions, AFP separates into four subfractions: NR (nonreactive with PHA-E), WR (reactive weakly), RS2 (strongly reactive), and RS1 (very strongly reactive) [14].
  • 1. Here we have extended our earlier studies by analyzing 31 RS families with the markers DXS16 (pSE3.2-L), DXS274, DXS92, and ZFX [23].
  • In this communication, two families with X-linked RS were analyzed for possible disease-causing mutations by polymerase chain reaction amplification of exons followed by DNA sequencing [24].

Analytical, diagnostic and therapeutic context of RS1


  1. Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families. Huopaniemi, L., Tyynismaa, H., Rantala, A., Rosenberg, T., Alitalo, T. Hum. Mutat. (2000) [Pubmed]
  2. Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. Grayson, C., Reid, S.N., Ellis, J.A., Rutherford, A., Sowden, J.C., Yates, J.R., Farber, D.B., Trump, D. Hum. Mol. Genet. (2000) [Pubmed]
  3. RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer. Wu, W.W., Wong, J.P., Kast, J., Molday, R.S. J. Biol. Chem. (2005) [Pubmed]
  4. Mechanisms involved in NK resistance induced by interferon-gamma. Ramirez, R., Solana, R., Carracedo, J., Alonso, M.C., Peña, J. Cell. Immunol. (1992) [Pubmed]
  5. Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis. van de Vosse, E., Franco, B., van der Bent, P., Montini, E., Orth, U., Hanauer, A., Tijmes, N., van Ommen, G.J., Ballabio, A., den Dunnen, J.T., Bergen, A.A. Hum. Genet. (1997) [Pubmed]
  6. Thee effect of 5-HTP on the reproductive timer in the male cricket. Ureshi, M., Dainobu, M., Sakai, M. Acta. Biol. Hung. (2004) [Pubmed]
  7. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Sauer, C.G., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C.C., Gibson, A., Lorenz, B., Jurklies, B., Weber, B.H. Nat. Genet. (1997) [Pubmed]
  8. Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. Weber, B.H., Schrewe, H., Molday, L.L., Gehrig, A., White, K.L., Seeliger, M.W., Jaissle, G.B., Friedburg, C., Tamm, E., Molday, R.S. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  9. CTXphi contains a hybrid genome derived from tandemly integrated elements. Davis, B.M., Waldor, M.K. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  10. Carotenoid pigments of facultatively anaerobic spirochetes. Greenberg, E.P., Canale-Parola, E. J. Bacteriol. (1975) [Pubmed]
  11. Imatinib mesylate radiosensitizes human glioblastoma cells through inhibition of platelet-derived growth factor receptor. Holdhoff, M., Kreuzer, K.A., Appelt, C., Scholz, R., Na, I.K., Hildebrandt, B., Riess, H., Jordan, A., Schmidt, C.A., Van Etten, R.A., Dörken, B., le Coutre, P. Blood Cells Mol. Dis. (2005) [Pubmed]
  12. 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. Zeng, Y., Takada, Y., Kjellstrom, S., Hiriyanna, K., Tanikawa, A., Wawrousek, E., Smaoui, N., Caruso, R., Bush, R.A., Sieving, P.A. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  13. Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis. Wang, T., Waters, C.T., Rothman, A.M., Jakins, T.J., Römisch, K., Trump, D. Hum. Mol. Genet. (2002) [Pubmed]
  14. Screening antisera for subtype specificity based on immunoblotting of lectin-affinity electrophoresis: application toward alpha-fetoprotein subfractions. Jone, C.M., Wu, A.H., Spillman, T., Fritsche, H.A. J. Clin. Lab. Anal. (1990) [Pubmed]
  15. Downregulation of the Na(+)- D-glucose cotransporter SGLT1 by protein RS1 (RSC1A1) is dependent on dynamin and protein kinase C. Veyhl, M., Wagner, C.A., Gorboulev, V., Schmitt, B.M., Lang, F., Koepsell, H. J. Membr. Biol. (2003) [Pubmed]
  16. Determination of the acyl moieties of the antibiotic complex A40926 and their relation with the membrane lipids of the producer strain. Zerilli, L.F., Edwards, D.M., Borghi, A., Gallo, G.G., Selva, E., Denaro, M., Lancini, G.C. Rapid Commun. Mass Spectrom. (1992) [Pubmed]
  17. Expression and exon/intron organization of two medaka fish homologs of the mammalian guanylyl cyclase A. Yamagami, S., Suzuki, K., Suzuki, N. J. Biochem. (2001) [Pubmed]
  18. The transport modifier RS1 is localized at the inner side of the plasma membrane and changes membrane capacitance. Valentin, M., Kühlkamp, T., Wagner, K., Krohne, G., Arndt, P., Baumgarten, K., Weber, W., Segal, A., Veyhl, M., Koepsell, H. Biochim. Biophys. Acta (2000) [Pubmed]
  19. Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene. Gehrig, A.E., Warneke-Wittstock, R., Sauer, C.G., Weber, B.H. Mamm. Genome (1999) [Pubmed]
  20. Function and presumed molecular structure of Na(+)-D-glucose cotransport systems. Koepsell, H., Spangenberg, J. J. Membr. Biol. (1994) [Pubmed]
  21. Overexpression of prolactin receptors during intrahepatic transplantation of RS1 rat cholangiocellular carcinoma cells. Ostroukhova, T.Y., Kulikov, A.V., Rozenkrants, A.A., Smirnova, O.V. Bull. Exp. Biol. Med. (2006) [Pubmed]
  22. Mapping of epitopes in discoidin domain receptor 1 critical for collagen binding. Curat, C.A., Eck, M., Dervillez, X., Vogel, W.F. J. Biol. Chem. (2001) [Pubmed]
  23. Refined localization of the gene causing X-linked juvenile retinoschisis. Alitalo, T., Kruse, T.A., de la Chapelle, A. Genomics (1991) [Pubmed]
  24. Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis. Shastry, B.S., Hejtmancik, F.J., Trese, M.T. Biochem. Biophys. Res. Commun. (1999) [Pubmed]
  25. Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. Hayashi, T., Omoto, S., Takeuchi, T., Kozaki, K., Ueoka, Y., Kitahara, K. Am. J. Ophthalmol. (2004) [Pubmed]
  26. Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations. Chan, W.M., Choy, K.W., Wang, J., Lam, D.S., Yip, W.W., Fu, W., Pang, C.P. Clin. Experiment. Ophthalmol. (2004) [Pubmed]
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