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Gene Review

OPHN1  -  oligophrenin 1

Homo sapiens

Synonyms: ARHGAP41, MRX60, OPN1, Oligophrenin-1
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Disease relevance of OPHN1


Psychiatry related information on OPHN1


High impact information on OPHN1


Chemical compound and disease context of OPHN1


Biological context of OPHN1

  • Knowledge of the genomic structure of the OPHN1 gene, which spans at least 500 kb and consists of 25 exons, will facilitate the search for additional mutations in OPHN1 [5].
  • The structure of the gene encoding the OPHN1 protein was determined by isolation of genomic DNA clones from the human cosmid library [5].
  • Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families [10].
  • The translated amino acid sequence was 99% identical to the published human oligophrenin-1 sequence [8].
  • JAR cell migration in response to OPN-1 was accompanied by a rapid rearrangement of actin filaments to the cellular membrane [11].

Anatomical context of OPHN1


Associations of OPHN1 with chemical compounds

  • Activation was blocked completely by rapamycin and LY294002, thus demonstrating that OPN-1-stimulated migration occurs through mTOR and PI3K pathways, respectively [11].

Regulatory relationships of OPHN1


Other interactions of OPHN1

  • A visual physical map of 1.2 Mb was constructed which spans the oligophrenin-1 gene and the androgen receptor gene [2].
  • Sequencing and BLAST analysis revealed that seven of the genes were known genes:ADP-ribosylation factor 4, Cytochrome oxidase subunit II, Ss-A/Ro ribonucleoprtein autoantigen 60kd subunit,ribosomal protein S13, galaectin-8 gene, oligophrenin 1 mRNA, ribosomal protein L23 mRNA; thirteen of the genes were unknown genes [13].

Analytical, diagnostic and therapeutic context of OPHN1


  1. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. Bergmann, C., Zerres, K., Senderek, J., Rudnik-Schoneborn, S., Eggermann, T., Häusler, M., Mull, M., Ramaekers, V.T. Brain (2003) [Pubmed]
  2. Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia. Tentler, D., Gustavsson, P., Leisti, J., Schueler, M., Chelly, J., Timonen, E., Annerén, G., Willard, H.F., Dahl, N. Eur. J. Hum. Genet. (1999) [Pubmed]
  3. Lymphovascular invasion is associated with poor survival in gastric cancer: an application of gene-expression and tissue array techniques. Dicken, B.J., Graham, K., Hamilton, S.M., Andrews, S., Lai, R., Listgarten, J., Jhangri, G.S., Saunders, L.D., Damaraju, S., Cass, C. Ann. Surg. (2006) [Pubmed]
  4. Significant overexpression of oligophrenin-1 in colorectal tumors detected by cDNA microarray analysis. Pinheiro, N.A., Caballero, O.L., Soares, F., Reis, L.F., Simpson, A.J. Cancer Lett. (2001) [Pubmed]
  5. Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation. Billuart, P., Chelly, J., Carrié, A., Vinet, M., Couvert, P., McDonell, N., Zemni, R., Kahn, A., Moraine, C., Beldjord, C., Bienvenu, T. Ann. Genet. (2000) [Pubmed]
  6. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Billuart, P., Bienvenu, T., Ronce, N., des Portes, V., Vinet, M.C., Zemni, R., Roest Crollius, H., Carrié, A., Fauchereau, F., Cherry, M., Briault, S., Hamel, B., Fryns, J.P., Beldjord, C., Kahn, A., Moraine, C., Chelly, J. Nature (1998) [Pubmed]
  7. The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain. Fauchereau, F., Herbrand, U., Chafey, P., Eberth, A., Koulakoff, A., Vinet, M.C., Ahmadian, M.R., Chelly, J., Billuart, P. Mol. Cell. Neurosci. (2003) [Pubmed]
  8. Evidence that a major site of expression of the RHO-GTPASE activating protein, oligophrenin-1, is peripheral myelin. Xiao, J., Neylon, C.B., Nicholson, G.A., Furness, J.B. Neuroscience (2004) [Pubmed]
  9. Is mental retardation a defect of synapse structure and function? Chechlacz, M., Gleeson, J.G. Pediatric neurology. (2003) [Pubmed]
  10. Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families. Chabrol, B., Girard, N., N'Guyen, K., Gérard, A., Carlier, M., Villard, L., Philip, N. Am. J. Med. Genet. A (2005) [Pubmed]
  11. Phosphorylated osteopontin promotes migration of human choriocarcinoma cells via a p70 S6 kinase-dependent pathway. Al-Shami, R., Sorensen, E.S., Ek-Rylander, B., Andersson, G., Carson, D.D., Farach-Carson, M.C. J. Cell. Biochem. (2005) [Pubmed]
  12. Gene expression abnormalities in human glial tumors identified by gene array. Ljubimova, J.Y., Khazenzon, N.M., Chen, Z., Neyman, Y.I., Turner, L., Riedinger, M.S., Black, K.L. Int. J. Oncol. (2001) [Pubmed]
  13. Differential display of vincristine-resistance-related genes in gastric cancer SGC7901 cell. Wang, X., Lan, M., Shi, Y.Q., Lu, J., Zhong, Y.X., Wu, H.P., Zai, H.H., Ding, J., Wu, K.C., Pan, B.R., Jin, J.P., Fan, D.M. World J. Gastroenterol. (2002) [Pubmed]
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