RS1 (gene)

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Retinoschisis (X-linked, juvenile) 1
Identifiers
Symbols RS1 ; RS; XLRS1
External IDs OMIM: 312700 MGI1336189 HomoloGene279
RNA expression pattern
File:PBB GE RS1 207363 at tn.png
File:PBB GE RS1 216937 s at tn.png
More reference expression data
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 6247
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 20147

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSG00000102104
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000031293

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| O15537
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q9R1M6

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_000330 (mRNA)
NP_000321 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_011302 (mRNA)
NP_035432 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr X: 18.57 - 18.6 Mb 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr X: 156.11 -  156.14 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Retinoschisis (X-linked, juvenile) 1, also known as RS1, is a human gene.[1]


References

  1. "Entrez Gene: RS1 retinoschisis (X-linked, juvenile) 1".

Further reading

  • Sikkink SK, Biswas S, Parry NR; et al. (2007). "X-linked retinoschisis: an update". J. Med. Genet. 44 (4): 225–32. doi:10.1136/jmg.2006.047340. PMID 17172462.
  • Alitalo T, Kruse TA, de la Chapelle A (1991). "Refined localization of the gene causing X-linked juvenile retinoschisis". Genomics. 9 (3): 505–10. PMID 2032721.
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.
  • Sauer CG, Gehrig A, Warneke-Wittstock R; et al. (1997). "Positional cloning of the gene associated with X-linked juvenile retinoschisis". Nat. Genet. 17 (2): 164–70. doi:10.1038/ng1097-164. PMID 9326935.
  • Hotta Y, Fujiki K, Hayakawa M; et al. (1998). "Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene". Hum. Genet. 103 (2): 142–4. PMID 9760195.
  • Shastry BS, Hejtmancik FJ, Trese MT (1999). "Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis". Biochem. Biophys. Res. Commun. 256 (2): 317–9. doi:10.1006/bbrc.1999.0323. PMID 10079181.
  • Mashima Y, Shinoda K, Ishida S; et al. (1999). "Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online". Hum. Mutat. 13 (4): 338. doi:10.1002/(SICI)1098-1004(1999)13:4<338::AID-HUMU16>3.0.CO;2-0. PMID 10220153.
  • Huopaniemi L, Rantala A, Forsius H; et al. (1999). "Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland". Eur. J. Hum. Genet. 7 (3): 368–76. doi:10.1038/sj.ejhg.5200300. PMID 10234514.
  • Gehrig A, White K, Lorenz B; et al. (1999). "Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis". Clin. Genet. 55 (6): 461–5. PMID 10450864.
  • Hiriyanna KT, Bingham EL, Yashar BM; et al. (2000). "Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change". Hum. Mutat. 14 (5): 423–7. doi:10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D. PMID 10533068.
  • Grayson C, Reid SN, Ellis JA; et al. (2000). "Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells". Hum. Mol. Genet. 9 (12): 1873–9. PMID 10915776.
  • Weber BH, Schrewe H, Molday LL; et al. (2002). "Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure". Proc. Natl. Acad. Sci. U.S.A. 99 (9): 6222–7. doi:10.1073/pnas.092528599. PMID 11983912.
  • Tuvdendorj D, Isashiki Y, Ohba N; et al. (2002). "Two Japanese patients with mutations in the XLRS1 gene". Retina (Philadelphia, Pa.). 22 (3): 354–7. PMID 12055472.
  • Wistow G, Bernstein SL, Wyatt MK; et al. (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". Mol. Vis. 8: 196–204. PMID 12107411.
  • Inoue Y, Yamamoto S, Inoue T; et al. (2002). "Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis". Am. J. Ophthalmol. 134 (4): 622–4. PMID 12383832.
  • Wang T, Waters CT, Rothman AM; et al. (2003). "Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis". Hum. Mol. Genet. 11 (24): 3097–105. PMID 12417531.
  • Tanimoto N, Usui T, Takagi M; et al. (2003). "Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene". Jpn. J. Ophthalmol. 46 (5): 568–76. PMID 12457918.
  • Wu WW, Molday RS (2003). "Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis". J. Biol. Chem. 278 (30): 28139–46. doi:10.1074/jbc.M302464200. PMID 12746437.
  • Fraternali F, Cavallo L, Musco G (2003). "Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin". FEBS Lett. 544 (1–3): 21–6. PMID 12782284.
  • Sato M, Oshika T, Kaji Y, Nose H (2003). "Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome". Ophthalmic Res. 35 (5): 295–300. doi:10.1159/000072151. PMID 12920343.

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