Property Summary

NCBI Gene PubMed Count 72
PubMed Score 308.03
PubTator Score 406.84

Knowledge Summary


No data available


  Differential Expression (3)

Disease log2 FC p
osteosarcoma -1.019 1.7e-07
lung cancer -1.800 7.3e-05
lung adenocarcinoma -1.500 3.6e-31

Gene RIF (60)

26043410 A novel RS1 (304C > T) mutation in a Taiwanese family with X-linked retinoschisis.
25894957 Clinical and genetic characterization of affected homozygous females in XLRS affords the rare opportunity to explore the molecular mechanisms of XLRS and the manifestation of these mutations as disease in humans.
25799783 the disease and p.Arg197Cys mutation of RS1 gene was identified
25168411 We identified a novel causative mutation of RS1 in a Chinese family with X-linked juvenile retinoschisis.
25054456 X-linked retinoschisis despite striking differences in phenotypic presentation in affected subjects, homozygosity of one affected female, and seemingly dominant inheritance in three subsequent generations because of multiple consanguinity.
24529551 A novel RS1 (97delT) mutation was identified in a Taiwanese family with X-linked retinoschisis (XLRS). This finding expands the RS1 mutation spectrum and may help to further understand the molecular pathogenesis of XLRS.
24505212 Sequencing of the RS1 gene identified 16 mutations, nine of which were novel.
24227916 Two novel exonic deletions within the RS1 gene locus, are reported.
23847049 Severe RS1 missense changes were associated with a lower ERG b/a ratio than were mild changes in X-linked retinoschisis suggesting the effect of the mutations on protein structure influenced the retinal dysfunction.
23453514 There is profound phenotypic variability in patients with XLRS. Nonsense, splice-site, or frame-shifting mutations in RS1 consistently caused electronegative bright-flash ERG, delayed flicker response, and abnormal PERG
23288992 Four novel RS1 gene mutations have been described in male Polish patients with X-linked juvenile retinoschisis.
22292953 aggregation propensity in the RS1 C110Y mutant is dependent upon the formation of suitable aggregating substrates for propagation of aggregation and not directly related to or determined by overall structural instability
22245991 Ten hemizygous mutations in RS1 were detected in patients from 14 of the 20 families with retinoschisis.
22183371 Loss of RS1 due to mutations in the X-linked retinoschsis gene leads to splitting within the retinal layers.
22171610 Clinical follow-up of an X-linked juvenile retinoschisis (XLRS) patient with a typical juvenile retinoschisis phenotype revealed no significant decline in visual acuity during this time period.
22110067 adaptive optics scanning laser ophthalmoscopy images of two patients with molecularly characterized XLRS revealed increased cone spacing and abnormal packing in the macula of each patient, but cone coverage and function were near normal.
22039241 RS1 mutation putative severity and age both had significant effects on retinal function in X-linked retinoschisis only in the severe mutation group, as judged by electroretinography analysis of the b-wave amplitude and the b/a-ratio
21738583 Data suggest that retinoschisin secretion is regulated by the F-actin cytoskeleton, that cGMP or inhibition of ROCK alters F-actin structure enhancing the secretion, and that the microtubule cytoskeleton is also involved in this process.
21701876 Two novel mutations (W112X and S134P) and three previously identified missense mutations (R102Q, R200H, and R213W) were found.
21196491 Retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis, membrane association is severely impaired in the absence of ATP1A3 and ATP1B2.
20809529 analyzed the biochemical consequences of several RS1 signal-sequence mutants (c.1A>T, c.35T>A, c.38T>C, and c.52G>A) in X-linked retinoschisis disease
20806044 The R213W mutation in RS1 causes various severities of retinoschisis in a large Chinese family.
20801516 Observational study of genetic testing. (HuGE Navigator)
20569020 Clinical follow-up of ten young XLRS (X-linked retinoschisis) patients with a typical congenital retinoschisis phenotype revealed no significant decline in retinal function during this time period.
20151283 A novel p.D126G mutation appeared to be associated with a severe phenotype with vitreous hemorrhage developing in infancy.
19849666 Results show that missense mutations of retinoschisin which cause intracellular retention also lead to an unfolded protein response.
19474399 The c354del1-ins18 mutation caused an RS1-null biochemical phenotype and a progressive clinical phenotype in a 5-year-old boy, whereas the older XLRS relatives had macular atrophy.
19393523 hemizygous 371 A/G missense mutation and hemizygous 214 G/A missense mutation in exon 5 in juvenile retinoschisis
19390641 characterization of the mutational spectrum of the RS1 gene in Korean patients with X-linked retinoschisis (XLRS); a missense mutation was the predominant type & common or founder mutations were not observed in the Korean patients in this study with XLRS
19390641 Observational study of gene-disease association. (HuGE Navigator)
19324861 The prevalent p.Gln154Arg mutation is first reported in this work and presents a common origin in Spanish patients with X-linked juvenile retinoschisis.
18982040 This report describes a novel mutation in a family in which consanguinity has led to XLRS in 4 females.
18834580 This study showed that the response of macular cysts to dorzolamide in patients with XLRS may be observed independent of the mechanism responsible for retinoschisin protein dysfunction.
18728755 The ocular findings of a Hungarian family with X-linked juvenile retinoschisis (XLRS) reveals a novel putative splice mutation leading to serious truncation of retinoschisin (RS1) protein.
18369700 RS1 gene mutations caused X-linked juvenile retinoschisis in these Chinese families.
17987333 In clinically suspected X-linked congenital retinoschisis (RS), a combination of ERG, FAF, OCT, and molecular-genetic testing is advised to verify the diagnosis.
17852193 We found there are five different mutations with four containing missense point mutations and one having a frame-shift deletion
17804407 confirmed the co-localization of retinoschisin with Na/K ATPase and SARM1 in photoreceptors and bipolar cells of retina tissue
17631851 We identified unusual presentations of X-linked retinoschisis with the help of electroretinography, optical coherence tomography, family screening, and genetic analysis
17615541 Severe X linked juvenile retinoschisis phenotypes are associated with the frameshift mutation 26 del T, splice donor site mutation (IVS1+2T to C), and Arg102Gln, Asp145His, Arg209His, and Arg213Gln mutations.
17515881 Observational study of genotype prevalence. (HuGE Navigator)
17515881 Mutations in RS1 to be associated with XLRS in the Indian population.
17296904 Multiple fine white dots at the macula may be the initial fundus feature in RS1 mutation.
17295148 We describe a novel nonsense mutation in the conserved region of Rs1 in a Japanese XLRS family.
17172462 Review. Many mutations have been found in RS1, which encodes a 224-AA secreting retinal protein, retinoschisin. Retinoschisin octamerisation is implicated in cell-cell interactions & cell adhesion perhaps by interacting with beta2 laminin.
17093404 Retinoschisin protein(RS) is expressed in the pinealocytes but not in interstitial glial cells. The lack of structural abnormalities in the RS1(-/Y) mice suggests that RS serves a different function in the pineal gland than in the retina.
17031297 We identified a novel point mutation (1A>T transversion) in the initiation codon of the XLRS1 gene in affected males
16768192 A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis.
15644328 assembly of RS1 into a disulfide-linked homo-octamer appears to be critical for its function as a retinal cell adhesion protein
15531314 In three patients, we identified three different missense mutations (p.S73P, p.Y89C, p.R209C) in the functionally important discoidin domain of the RS1 gene.
15281981 One patient with more severe clinical presentation had a RS1 exon 1 deletion and a P193S mutation was found in the other patient with mild macular involvement
14986011 Molecular testing revealed a novel 473-bp deletion including exon 4 in the XLRS1 gene in both siblings. This resulted in a frameshift mutation and a premature termination at codon 78.
12967815 four base pair deletion (375- 378 del AGAT) in exon 5 of the XLRS1 gene was found in all affected males.
12920343 Each family had a different mutation, Trp96stop, 522+1g-->a, and Lys167Asn in the XLRS1 gene.
12782284 analysis of folding of mutant RS1 protein
12746437 X-linked retinoschisis is caused by defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin
12457918 Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr missense mutation of the XLRS1 gene.
12417531 Basis of RS1 is intracellular retention of mutant proteins, which may explain why disease severity is not mutation-specific.
12383832 Two novel point mutations of the XLRS1 gene in two Japanese patients with X-linked juvenile retinoschisis. One novel splice donor site mutation (IVS2 + 1g to a) and one missense mutation of exon 6 (Ala211Thr) were found.
12055472 Novel and known missense mutations of XLRS1 gene in the diagnosis retinoschisis.

AA Sequence

AIRMELLECVSKCA                                                            211 - 224

Text Mined References (73)

PMID Year Title
26043410 2015 The gene mutation in a Taiwanese family with X-linked retinoschisis.
25894957 Clinical and molecular characterization of females affected by X-linked retinoschisis.
25799783 2014 X-linked retinoschisis--clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene.
25168411 2014 A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family.
25054456 2014 X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient.
24529551 2015 A novel gene mutation in a family with X-linked retinoschisis.
24505212 2014 Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis.
24227916 2013 Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis.
23847049 2013 Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
23453514 2013 A phenotype-genotype correlation study of X-linked retinoschisis.
23288992 2012 Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.
22292953 2012 In silico investigation of the disease-associated retinoschisin C110Y and C219G mutants.
22245991 2012 Novel RS1 mutations associated with X-linked juvenile retinoschisis.
22183371 2012 Biology of retinoschisin.
22171610 2012 Thirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation.
22110067 2011 Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.
22039241 2011 X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.
21738583 2011 Regulation of retinoschisin secretion in Weri-Rb1 cells by the F-actin and microtubule cytoskeleton.
21701876 2011 Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene.
21196491 2011 The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis.
20809529 2010 Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.
20806044 2010 R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20569020 2010 Long-term 12 year follow-up of X-linked congenital retinoschisis.
20151283 2010 Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis.
19849666 2009 Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.
19474399 2009 Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study.
19393523 2009 Genetic and clinical evaluation of juvenile retinoschisis.
19390641 2009 Molecular genetic characteristics of X-linked retinoschisis in Koreans.
19324861 2009 Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.
19093009 2008 Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
18982040 2008 Molecular analysis of the XLRS1 gene in 4 females affected with X-linked juvenile retinoschisis.
18834580 2009 Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.
18728755 2008 Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.
18369700 Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.
17987333 2008 ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
17852193 Identification of novel mutations in the XLRS1 gene in Chinese patients with X-linked juvenile retinoschisis.
17804407 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.
17631851 2007 Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.
17615541 2007 Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.
17515881 2007 Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.
17304551 2007 X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.
17296904 2007 Novel phenotypic and genotypic findings in X-linked retinoschisis.
17295148 A novel truncating Rs1 mutation associated with X-linked juvenile retinoschisis.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
17172462 2007 X-linked retinoschisis: an update.
17093404 2006 Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout.
17031297 2006 X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family.
16768192 2006 A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.
15772651 2005 The DNA sequence of the human X chromosome.
15644328 2005 RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer.
15531314 2004 Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene.
15281981 2004 Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations.
14986011 2004 Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis.
12967815 2003 X-linked retinoschisis: report of a family with a rare deletion in the XLRS1 gene.
12920343 Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome.
12782284 2003 Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin.
12746437 2003 Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis.
12457918 Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene.
12417531 2002 Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.
12383832 2002 Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis.
12107411 2002 Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts.
11983912 2002 Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure.
10915776 2000 Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.
10533068 1999 Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
10450864 1999 Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.
10234514 1999 Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.
10220153 1999 Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.
10079181 1999 Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.
9760195 1998 Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.
9326935 1997 Positional cloning of the gene associated with X-linked juvenile retinoschisis.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
2032721 1991 Refined localization of the gene causing X-linked juvenile retinoschisis.