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Gene Review

EXOSC6  -  exosome component 6

Homo sapiens

Synonyms: EAP4, Exosome complex component MTR3, Exosome component 6, MTR3, Mtr3p, ...
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Disease relevance of EXOSC6

  • Alterations in expression of p11 and SERT in mucosal biopsy specimens of patients with irritable bowel syndrome [1].
  • The p11 protein is identical to the nucleic acid-binding protein of EIAV previously isolated (C. W. Long, L. E. Henderson, and S. Oroszlan, Virology 104:491-496, 1980) [2].
  • A 31-year-old female patient with short stature, signs of gonadal dysgenesis, and slight Turner signs is described with a mosaic 45,XO/46,XX del (X) (qter leads to p11) determined with trypsin Giemsa-banding and C-staining [3].
  • Myxoid liposarcomas (LPS) are characterized by the t(12; 16)(q13; p11), which leads to the formation of a FUS-CHOP fusion transcript [4].
  • Combinations were tested in MCF-7 human breast cancer cells, a HER-2/neu transfected MCF-7 cell line (MCF/18), and a tamoxifen-resistant MCF-7 cell line (MTR-3) [5].

Psychiatry related information on EXOSC6

  • Smith-Magenis syndrome (SMS) is a multiple congenital anomalies and mental retardation syndrome associated with an interstitial deletion of chromosome 17 band p11 [6].

High impact information on EXOSC6

  • No significant effect on p11 mRNA expression in sigmoid colon or rectum was noted from antidepressant treatment in any of the analyzed subgroups [1].
  • Two proteins that influence the function of serotonin and serotonergic receptors are serotonin transporter protein (SERT or soluble carrier protein, SLC6A4) and p11 (S-100A10, or calpactin I light chain) [1].
  • A similar translocation which is however specific for the annexin II2p11(2) complex and early endosomes and does not affect other elements of the cell cortex is observed in cells expressing a trans-dominant annexin II-p11 mutant [7].
  • DNA analysis revealed a polymorphic EcoRI band and chromosome localization by flow sorting and in situ hybridization showed that the alpha subunit is on the short arm (band p11-p13) of chromosome 1 [8].
  • The p9 and p11 positivities fused after laminectomy, suggesting that conductance change at the root entry to the bony spinal canal separates these components in the noncephalic reference recording [9].

Chemical compound and disease context of EXOSC6


Biological context of EXOSC6


Anatomical context of EXOSC6

  • The gene for apoA-I has been localized to the p11 leads to q13 region of chromosome 11 by filter hybridization analysis of mouse-human hybrid cell cDNAs containing chromosome 11 translocations utilizing a cloned human apoA-I cDNA probe [15].
  • Using trypsin-Giemsa banding, a total of 1,350 unrelated Chinese fetuses were studied for pericentric inversion of chromosome 9 [inv(9) (p11; q13)] [16].
  • A MAP containing the B cell epitope (p11) and the universal epitope ptt-30 together with another composed of p11 and the promiscuous T cell epitope (p25) proved to be the most immunogenic [17].

Analytical, diagnostic and therapeutic context of EXOSC6


  1. Alterations in expression of p11 and SERT in mucosal biopsy specimens of patients with irritable bowel syndrome. Camilleri, M., Andrews, C.N., Bharucha, A.E., Carlson, P.J., Ferber, I., Stephens, D., Smyrk, T.C., Urrutia, R., Aerssens, J., Thielemans, L., Göhlmann, H., van den Wyngaert, I., Coulie, B. Gastroenterology (2007) [Pubmed]
  2. Chemical and immunological characterizations of equine infectious anemia virus gag-encoded proteins. Henderson, L.E., Sowder, R.C., Smythers, G.W., Oroszlan, S. J. Virol. (1987) [Pubmed]
  3. Short-arm deletion of an X chromosome (45,XO/46,XX p--). Kaiser, P., Gerhard-Ratschow, K., Zabel, B., Daume, E. Hum. Genet. (1977) [Pubmed]
  4. The 16p11 breakpoint in myxoid liposarcomas might affect the expression of the LRP gene on 16p11.2 encoding the multidrug resistance associated major vault protein. Plaat, B.E., Molenaar, W.M., Sagrudny, J., Bohle, R.M., Mastik, M.F., Hoekstra, H.J., Van der Graaf, W.T., Hollema, H., van den Berg, E. Eur. J. Clin. Invest. (2000) [Pubmed]
  5. Synergistic inhibition of breast cancer cell lines with a dual inhibitor of EGFR-HER-2/neu and a Bcl-2 inhibitor. Witters, L.M., Witkoski, A., Planas-Silva, M.D., Berger, M., Viallet, J., Lipton, A. Oncol. Rep. (2007) [Pubmed]
  6. Cognitive and adaptive behavior profiles in Smith-Magenis syndrome. Madduri, N., Peters, S.U., Voigt, R.G., Llorente, A.M., Lupski, J.R., Potocki, L. Journal of developmental and behavioral pediatrics : JDBP. (2006) [Pubmed]
  7. The subcellular distribution of early endosomes is affected by the annexin II2p11(2) complex. Harder, T., Gerke, V. J. Cell Biol. (1993) [Pubmed]
  8. Human placental Na+,K+-ATPase alpha subunit: cDNA cloning, tissue expression, DNA polymorphism, and chromosomal localization. Chehab, F.F., Kan, Y.W., Law, M.L., Hartz, J., Kao, F.T., Blostein, R. Proc. Natl. Acad. Sci. U.S.A. (1987) [Pubmed]
  9. Origin of short-latency somatosensory evoked potentials to median nerve stimulation in the cat. Comparison of the recording montages and effect of laminectomy. Kaji, R., Tanaka, R., Kawaguchi, S., McCormick, F., Kameyama, M. Brain (1986) [Pubmed]
  10. Sequential staining of euchromatic and heterochromatic regions of the human Y chromosome. Goyanes, V.J. J. Med. Genet. (1980) [Pubmed]
  11. Structure of the 5' flanking region of the gene encoding human parathyroid-hormone-related protein (PTHrP). Suva, L.J., Mather, K.A., Gillespie, M.T., Webb, G.C., Ng, K.W., Winslow, G.A., Wood, W.I., Martin, T.J., Hudson, P.J. Gene (1989) [Pubmed]
  12. Balanced and unbalanced pericentric inversion of a chromosome 14. Pfeiffer, R.A., Kessel, E. Hum. Genet. (1978) [Pubmed]
  13. Molecular and cytogenetic investigation of complex tissue-specific duplication and loss of chromosome 21 in a child with a monosomy 21 phenotype. Krasikov, N., Takaesu, N., Hassold, T., Knops, J.F., Finley, W.H., Scarbrough, P. Am. J. Med. Genet. (1992) [Pubmed]
  14. No immunosuppressive effect of transfected annexin II. Hansen, T. APMIS (2002) [Pubmed]
  15. Human apolipoprotein A-I and C-III genes reside in the p11----q13 region of chromosome 11. Law, S.W., Gray, G., Brewer, H.B., Sakaguchi, A.Y., Naylor, S.L. Biochem. Biophys. Res. Commun. (1984) [Pubmed]
  16. Pericentric inversions of chromosome 9 in Taiwanese fetuses. Ko, T.M., Hsieh, F.J., Chang, L.S., Pan, M.F., Lee, T.Y. J. Formos. Med. Assoc. (1992) [Pubmed]
  17. Immunogenicity of multiple antigen peptides containing Plasmodium vivax CS epitopes in BALB/c mice. Herrera, M.A., de Plata, C., González, J.M., Corradin, G., Herrera, S. Mem. Inst. Oswaldo Cruz (1994) [Pubmed]
  18. Structure and polymorphisms of the human metabotropic glutamate receptor type 2 gene (GRM2): analysis of association with schizophrenia. Joo, A., Shibata, H., Ninomiya, H., Kawasaki, H., Tashiro, N., Fukumaki, Y. Mol. Psychiatry (2001) [Pubmed]
  19. Lentivirus antigen purification and characterization: isolation of equine infectious anemia virus gag and env proteins in one step by reverse phase HPLC and application to human immunodeficiency virus glycoproteins. Ball, J.M., Rao, V.S., Robey, W.G., Issel, C.J., Montelaro, R.C. J. Virol. Methods (1988) [Pubmed]
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