Retinoschisin

Retinoschisin homo16mer, Human
RS1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRS1, RS, XLretinoschisin 1
External IDsMGI: 1336189 HomoloGene: 279 GeneCards: RS1
Gene location (Human)
Chr.X chromosome (human)[1]
BandXp22.13Start18,639,910 bp[1]
End18,672,109 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

6247

20147

Ensembl

ENSG00000102104

ENSMUSG00000031293

UniProt

O15537

Q9Z1L4

RefSeq (mRNA)

NM_000330

NM_011302

RefSeq (protein)

NP_000321

NP_035432

Location (UCSC)Chr X: 18.64 – 18.67 MbChr X: 160.77 – 160.8 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Retinoschisin also known as X-linked juvenile retinoschisis protein is a lectin[5][6] that in humans is encoded by the RS1 gene.[7]

Function

Retinoschisin is an extracellular protein that plays a crucial role in the cellular organization of the retina. This protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex.[8] Monomeric retinoschisin contains 224 amino acids with a leader sequence that is cleaved off upon preparation in the cell for secretion.[7]

Clinical significance

Mutations in this gene are responsible for X-linked retinoschisis an early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision.[9]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000102104 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031293 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Vijayasarathy C, Ziccardi L, Sieving PA (2012). "Biology of retinoschisin". Advances in Experimental Medicine and Biology. 723: 513–8. doi:10.1007/978-1-4614-0631-0_64. PMC 3475158. PMID 22183371.
  6. ↑ Wu WW (October 2005). RS1 structure-function relationships: roles in retinal adhesion and X-linked retinoschisis (Ph.D. thesis). The University of British Columbia.
  7. 1 2 Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BH (October 1997). "Positional cloning of the gene associated with X-linked juvenile retinoschisis". Nature Genetics. 17 (2): 164–70. doi:10.1038/ng1097-164. PMID 9326935.
  8. ↑ Molday LL, Wu WW, Molday RS (November 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. 282 (45): 32792–801. doi:10.1074/jbc.M706321200. PMID 17804407.
  9. ↑ Weber BH, Kellner U (2007). "X-Linked Juvenile Retinoschisis". In Tombran-Tink J, Barnstable C. Retinal Degenerations: Biology, Diagnostics, and Therapeutics. Springer Science & Business Media. pp. 119–135. ISBN 978-1-59745-186-4.

Further reading

  • Sikkink SK, Biswas S, Parry NR, Stanga PE, Trump D (April 2007). "X-linked retinoschisis: an update". Journal of Medical Genetics. 44 (4): 225–32. doi:10.1136/jmg.2006.047340. PMC 2598044. PMID 17172462.
  • Alitalo T, Kruse TA, de la Chapelle A (March 1991). "Refined localization of the gene causing X-linked juvenile retinoschisis". Genomics. 9 (3): 505–10. doi:10.1016/0888-7543(91)90417-D. PMID 2032721.
  • Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
  • Hotta Y, Fujiki K, Hayakawa M, Ohta T, Fujimaki T, Tamaki K, Yokoyama T, Kanai A, Hirakata A, Hida T, Nishina S, Azuma N (August 1998). "Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene". Human Genetics. 103 (2): 142–4. doi:10.1007/pl00008705. PMID 9760195.
  • Shastry BS, Hejtmancik FJ, Trese MT (March 1999). "Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis". Biochemical and Biophysical Research Communications. 256 (2): 317–9. doi:10.1006/bbrc.1999.0323. PMID 10079181.
  • Mashima Y, Shinoda K, Ishida S, Ozawa Y, Kudoh J, Iwata T, Oguchi Y, Shimizu N (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. 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, Somer M, de la Chapelle A, Alitalo T (April 1999). "Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland". European Journal of Human Genetics. 7 (3): 368–76. doi:10.1038/sj.ejhg.5200300. PMID 10234514.
  • Gehrig A, White K, Lorenz B, Andrassi M, Clemens S, Weber BH (June 1999). "Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis". Clinical Genetics. 55 (6): 461–5. doi:10.1034/j.1399-0004.1999.550611.x. PMID 10450864.
  • Hiriyanna KT, Bingham EL, Yashar BM, Ayyagari R, Fishman G, Small KW, Weinberg DV, Weleber RG, Lewis RA, Andreasson S, Richards JE, Sieving PA (2000). "Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change". Human Mutation. 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, Rutherford A, Sowden JC, Yates JR, Farber DB, Trump D (July 2000). "Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells". Human Molecular Genetics. 9 (12): 1873–9. doi:10.1093/hmg/9.12.1873. PMID 10915776.
  • Weber BH, Schrewe H, Molday LL, Gehrig A, White KL, Seeliger MW, Jaissle GB, Friedburg C, Tamm E, Molday RS (April 2002). "Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure". Proceedings of the National Academy of Sciences of the United States of America. 99 (9): 6222–7. doi:10.1073/pnas.092528599. PMC 122930. PMID 11983912.
  • Tuvdendorj D, Isashiki Y, Ohba N, Sonoda S, Izumo S (June 2002). "Two Japanese patients with mutations in the XLRS1 gene". Retina. 22 (3): 354–7. doi:10.1097/00006982-200206000-00017. PMID 12055472.
  • Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW, Bouffard G, Smith D, Peterson K (June 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". Molecular Vision. 8: 196–204. PMID 12107411.
  • Inoue Y, Yamamoto S, Inoue T, Fujikado T, Kusaka S, Ohguro N, Ohji M, Tano Y (October 2002). "Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis". American Journal of Ophthalmology. 134 (4): 622–4. doi:10.1016/S0002-9394(02)01592-1. PMID 12383832.
  • Wang T, Waters CT, Rothman AM, Jakins TJ, Römisch K, Trump D (November 2002). "Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis". Human Molecular Genetics. 11 (24): 3097–105. doi:10.1093/hmg/11.24.3097. PMID 12417531.
  • Tanimoto N, Usui T, Takagi M, Hasegawa S, Abe H, Sekiya K, Miyagawa Y, Nakazawa M (2003). "Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene". Japanese Journal of Ophthalmology. 46 (5): 568–76. doi:10.1016/S0021-5155(02)00539-7. PMID 12457918.
  • Wu WW, Molday RS (July 2003). "Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis". The Journal of Biological Chemistry. 278 (30): 28139–46. doi:10.1074/jbc.M302464200. PMID 12746437.
  • Fraternali F, Cavallo L, Musco G (June 2003). "Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin". FEBS Letters. 544 (1–3): 21–6. doi:10.1016/S0014-5793(03)00433-2. 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 Research. 35 (5): 295–300. doi:10.1159/000072151. PMID 12920343.

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