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Gene Review

PRKCSH  -  protein kinase C substrate 80K-H

Homo sapiens

Synonyms: 80K-H protein, AGE-R2, G19P1, Glucosidase 2 subunit beta, Glucosidase II subunit beta, ...
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Disease relevance of PRKCSH

  • In light of the focal nature of liver cysts in ADPLD, the apparent loss-of-function mutations in PRKCSH, and the two-hit mechanism operational in dominant polycystic kidney disease, ADPLD may also occur by a two-hit mechanism [1].
  • A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group [2].
  • We purified the 80K protein from human squamous carcinoma Ca9-22 cells and fractionated it into two distinct molecular species, designated the 80K-L and 80K-H proteins [3].
  • We now report that the protein 80K-H, a substrate for PKC, appears to be part of this mechanism and that it is increased in breast cancer and localizes to the nucleus as part of the mechanism [4].

High impact information on PRKCSH


Biological context of PRKCSH


Anatomical context of PRKCSH


Associations of PRKCSH with chemical compounds


Physical interactions of PRKCSH

  • Activated FGFR3 predominantly interacts with GRB2.Sos in complex with a previously identified 90-kDa protein and designated protein 80K-H [14].

Other interactions of PRKCSH


Analytical, diagnostic and therapeutic context of PRKCSH

  • A phosporylation assay in combination with AGE-R2 immunoprecipitation demonstrated that this component of the receptor complex is phosphorylated by acute exposure to AGE-BSA [18].


  1. Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. Li, A., Davila, S., Furu, L., Qian, Q., Tian, X., Kamath, P.S., King, B.F., Torres, V.E., Somlo, S. Am. J. Hum. Genet. (2003) [Pubmed]
  2. A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group. Ophoff, R.A., Terwindt, G.M., Vergouwe, M.N., van Eijk, R., Mohrenweiser, H., Litt, M., Hofker, M.H., Haan, J., Ferrari, M.D., Frants, R.R. Eur. J. Hum. Genet. (1996) [Pubmed]
  3. Isolation of cDNAs encoding a substrate for protein kinase C: nucleotide sequence and chromosomal mapping of the gene for a human 80K protein. Sakai, K., Hirai, M., Minoshima, S., Kudoh, J., Fukuyama, R., Shimizu, N. Genomics (1989) [Pubmed]
  4. Elevated 80K-H protein in breast cancer: a role for FGF-1 stimulation of 80K-H. Forough, R., Lindner, L., Partridge, C., Jones, B., Guy, G., Clark, G. Int. J. Biol. Markers (2003) [Pubmed]
  5. 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]
  6. Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. Drenth, J.P., te Morsche, R.H., Smink, R., Bonifacino, J.S., Jansen, J.B. Nat. Genet. (2003) [Pubmed]
  7. Molecular identity and cellular distribution of advanced glycation endproduct receptors: relationship of p60 to OST-48 and p90 to 80K-H membrane proteins. Li, Y.M., Mitsuhashi, T., Wojciechowicz, D., Shimizu, N., Li, J., Stitt, A., He, C., Banerjee, D., Vlassara, H. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  8. Polycystic disease of the liver. Everson, G.T., Taylor, M.R., Doctor, R.B. Hepatology (2004) [Pubmed]
  9. 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]
  10. Vacuolar system-associated protein-60: a protein characterized from bovine granulosa and luteal cells that is associated with intracellular vesicles and related to human 80K-H and murine beta-glucosidase II. Brûlé, S., Rabahi, F., Faure, R., Beckers, J.F., Silversides, D.W., Lussier, J.G. Biol. Reprod. (2000) [Pubmed]
  11. Identification of 80K-H as a protein involved in GLUT4 vesicle trafficking. Hodgkinson, C.P., Mander, A., Sale, G.J. Biochem. J. (2005) [Pubmed]
  12. Identification of p90, a prominent tyrosine-phosphorylated protein in fibroblast growth factor-stimulated cells, as 80K-H. Goh, K.C., Lim, Y.P., Ong, S.H., Siak, C.B., Cao, X., Tan, Y.H., Guy, G.R. J. Biol. Chem. (1996) [Pubmed]
  13. Presence of diabetic complications in type 1 diabetic patients correlates with low expression of mononuclear cell AGE-receptor-1 and elevated serum AGE. He, C.J., Koschinsky, T., Buenting, C., Vlassara, H. Mol. Med. (2001) [Pubmed]
  14. Signal transduction pathway of human fibroblast growth factor receptor 3. Identification of a novel 66-kDa phosphoprotein. Kanai, M., Göke, M., Tsunekawa, S., Podolsky, D.K. J. Biol. Chem. (1997) [Pubmed]
  15. Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease. Drenth, J.P., Tahvanainen, E., te Morsche, R.H., Tahvanainen, P., Kääriäinen, H., Höckerstedt, K., van de Kamp, J.M., Breuning, M.H., Jansen, J.B. Hepatology (2004) [Pubmed]
  16. Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation. Peces, R., Drenth, J.P., Te Morsche, R.H., González, P., Peces, C. World J. Gastroenterol. (2005) [Pubmed]
  17. Cell activation by glycated proteins. AGE receptors, receptor recognition factors and functional classification of AGEs. Thornalley, P.J. Cell. Mol. Biol. (Noisy-le-grand) (1998) [Pubmed]
  18. Characterization of the advanced glycation end-product receptor complex in human vascular endothelial cells. Stitt, A.W., He, C., Vlassara, H. Biochem. Biophys. Res. Commun. (1999) [Pubmed]
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