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SEC63  -  SEC63 homolog (S. cerevisiae)

Homo sapiens

Synonyms: DNAJC23, ERdj2, PRO2507, SEC63L, Translocation protein SEC63 homolog
 
 
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High impact information on SEC63

 

Biological context of SEC63

  • Two patients (11%) from group A had missense mutations (1 PRKCSH and 1 SEC63) [4].
  • We designed this study with two goals: to assess the relative contribution of PRKCSH and SEC63 mutations in a cohort of unrelated patients with a variable number of liver cysts, and to assess the effect of these mutations on the severity of the PCLD phenotype [4].
 

Anatomical context of SEC63

  • Human Sec63 endoplasmic reticulum membrane protein, map position 6q21 [5].
  • The probable function of the mammalian Sec61-Sec62-Sec63 complex is discussed with respect to its abundance in ER membranes, which, in contrast to yeast ER membranes, apparently lack efficient post-translational translocation activity [6].
 

Associations of SEC63 with chemical compounds

  • CNX also cooperated with BiP and the J domain of Sec63p in the ATP-dependent refolding of glycoprotein and non-glycosylated substrates [7].
 

Other interactions of SEC63

  • Furthermore, mutations in the SEC63 gene and overexpression of the SEC62 gene are associated with various human cancers [8].
  • Six patients (25%) with more than 20 liver cysts had mutations (4 PRKCSH and 2 SEC63), of which five mutations were chain-terminating [4].

References

  1. Mutations in SEC63 cause autosomal dominant polycystic liver disease. Davila, S., Furu, L., Gharavi, A.G., Tian, X., Onoe, T., Qian, Q., Li, A., Cai, Y., Kamath, P.S., King, B.F., Azurmendi, P.J., Tahvanainen, P., Kääriäinen, H., Höckerstedt, K., Devuyst, O., Pirson, Y., Martin, R.S., Lifton, R.P., Tahvanainen, E., Torres, V.E., Somlo, S. Nat. Genet. (2004) [Pubmed]
  2. Homologs of the yeast Sec complex subunits Sec62p and Sec63p are abundant proteins in dog pancreas microsomes. Tyedmers, J., Lerner, M., Bies, C., Dudek, J., Skowronek, M.H., Haas, I.G., Heim, N., Nastainczyk, W., Volkmer, J., Zimmermann, R. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  3. The Brl domain in Sec63p is required for assembly of functional endoplasmic reticulum translocons. Jermy, A.J., Willer, M., Davis, E., Wilkinson, B.M., Stirling, C.J. J. Biol. Chem. (2006) [Pubmed]
  4. Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. Waanders, E., te Morsche, R.H., de Man, R.A., Jansen, J.B., Drenth, J.P. Hum. Mutat. (2006) [Pubmed]
  5. Human Sec63 endoplasmic reticulum membrane protein, map position 6q21. Woollatt, E., Pine, K.A., Shine, J., Sutherland, G.R., Iismaa, T.P. Chromosome Res. (1999) [Pubmed]
  6. Mammalian Sec61 is associated with Sec62 and Sec63. Meyer, H.A., Grau, H., Kraft, R., Kostka, S., Prehn, S., Kalies, K.U., Hartmann, E. J. Biol. Chem. (2000) [Pubmed]
  7. Relationship between calnexin and BiP in suppressing aggregation and promoting refolding of protein and glycoprotein substrates. Stronge, V.S., Saito, Y., Ihara, Y., Williams, D.B. J. Biol. Chem. (2001) [Pubmed]
  8. Protein transport into the endoplasmic reticulum: mechanisms and pathologies. Zimmermann, R., M??ller, L., Wullich, B. Trends in molecular medicine (2006) [Pubmed]
 
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