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Gene Review

RPN1  -  ribophorin I

Homo sapiens

Synonyms: Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 67 kDa subunit, Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1, OST1, RBPH1, RPN-I, ...
 
 
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High impact information on RPN1

  • Based on this, a structural model of the repeat-containing domains of the Rpn1/S2 and Rpn2/S1 proteins, which represent the largest subunits of the 26 S proteasome, has been proposed [1].
  • The breakpoints in both entities are outside the genes, and the 3q21 region, where RPN1 is located, seems to act as an enhancer [2].
  • Because the MEL1 transcript is detected only in leukemic cells with t(1;3)(p36;q21), ectopic expression of MEL1 driven by RPN1 at 3q21 is thought to contribute to the pathogenesis of t(1;3)(p36;q21) leukemia [3].
  • MEL1 (at chromosome band 1p36.3) is thought to be transcriptionally activated as a result of juxtaposition to the RPN1 gene at 3q21 [4].
  • The former is the mapped location of the ribophorin 1 (RPN1) gene, whereas the latter is the mapped location of the janus kinase 2 (JAK2) gene [5].
 

Other interactions of RPN1

  • Other genes that have been implicated at the rearrangement breakpoint are GR6 and RPN1 (both on 3q21) [6].
  • Recently, the two genes involved in this translocation have been identified: the MEL1 gene at 1p36.3, and the RPN1 gene at 3q21 [3].
  • What curves alpha-solenoids? Evidence for an alpha-helical toroid structure of Rpn1 and Rpn2 proteins of the 26 S proteasome [1].
  • Originally, inv(3) and t(3;3) breakpoints have been reported to cluster in a region (breakpoint cluster region, BCR) of approximately 30 kb, which is located centromeric and downstream of the ribophorin I (RPN-I) gene [7].

References

  1. What curves alpha-solenoids? Evidence for an alpha-helical toroid structure of Rpn1 and Rpn2 proteins of the 26 S proteasome. Kajava, A.V. J. Biol. Chem. (2002) [Pubmed]
  2. Molecular characterization of a t(1;3)(p36;q21) in a patient with MDS. MEL1 is widely expressed in normal tissues, including bone marrow, and it is not overexpressed in the t(1;3) cells. Lahortiga, I., Agirre, X., Belloni, E., Vázquez, I., Larrayoz, M.J., Gasparini, P., Lo Coco, F., Pelicci, P.G., Calasanz, M.J., Odero, M.D. Oncogene (2004) [Pubmed]
  3. Breakpoints at 1p36.3 in three MDS/AML(M4) patients with t(1;3)(p36;q21) occur in the first intron and in the 5' region of MEL1. Xinh, P.T., Tri, N.K., Nagao, H., Nakazato, H., Taketazu, F., Fujisawa, S., Yagasaki, F., Chen, Y.Z., Hayashi, Y., Toyoda, A., Hattori, M., Sakaki, Y., Tokunaga, K., Sato, Y. Genes Chromosomes Cancer (2003) [Pubmed]
  4. Low expression of MDS1-EVI1-like-1 (MEL1) and EVI1-like-1 (EL1) genes in favorable-risk acute myeloid leukemia. Barjesteh van Waalwijk van Doorn-Khosrovani, S., Erpelinck, C., Löwenberg, B., Delwel, R. Exp. Hematol. (2003) [Pubmed]
  5. Chronic idiopathic myelofibrosis (CIMF) resulting from a unique 3;9 translocation disrupting the janus kinase 2 (JAK2) gene. Mark, H.F., Sotomayor, E.A., Nelson, M., Chaves, F., Sanger, W.G., Kaleem, Z., Caughron, S.K. Exp. Mol. Pathol. (2006) [Pubmed]
  6. Association of 3q21q26 syndrome with different RPN1/EVI1 fusion transcripts. Martinelli, G., Ottaviani, E., Buonamici, S., Isidori, A., Borsaru, G., Visani, G., Piccaluga, P.P., Malagola, M., Testoni, N., Rondoni, M., Nucifora, G., Tura, S., Baccarani, M. Haematologica (2003) [Pubmed]
  7. Rearrangements of chromosome band 3q21 in myeloid leukemia. Wieser, R. Leuk. Lymphoma (2002) [Pubmed]
 
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