PRKCSH explained

Glucosidase 2 subunit beta is an enzyme that in humans is encoded by the PRKCSH gene.^[1]

This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER). This protein is an acidic phospho-protein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease (PCLD). Alternatively spliced transcript variants encoding distinct isoforms have been observed.

Further reading

• Thornalley PJ . Cell activation by glycated proteins. AGE receptors, receptor recognition factors and functional classification of AGEs . Cell. Mol. Biol. (Noisy-le-grand) . 44 . 7 . 1013–23 . 1999 . 9846883 .
• Lukàcs A . [Debate on prophylaxis] . Prevenzione Stomatologica . 1 . 2 . 43–7 . 1978 . 1076483 .
• Hirai M, Shimizu N . Purification of two distinct proteins of approximate Mr 80,000 from human epithelial cells and identification as proper substrates for protein kinase C . Biochem. J. . 270 . 3 . 583–9 . 1990 . 2241894 . 10.1042/bj2700583. 1131772 .
• Sakai K . Isolation of cDNAs encoding a substrate for protein kinase C: nucleotide sequence and chromosomal mapping of the gene for a human 80K protein . Genomics . 5 . 2 . 309–15 . 1989 . 2793184 . 10.1016/0888-7543(89)90063-3 . Hirai M . Minoshima S . Kudoh . J . Fukuyama . R . Shimizu . N .
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Gress TM . A pancreatic cancer-specific expression profile . Oncogene . 13 . 8 . 1819–30 . 1996 . 8895530 . Müller-Pillasch F . Geng M . Zimmerhackl . F . Zehetner . G . Friess . H . Büchler . M . Adler . G . Lehrach . H .
• Trombetta ES, Simons JF, Helenius A . Endoplasmic reticulum glucosidase II is composed of a catalytic subunit, conserved from yeast to mammals, and a tightly bound noncatalytic HDEL-containing subunit . J. Biol. Chem. . 271 . 44 . 27509–16 . 1996 . 8910335 . 10.1074/jbc.271.44.27509 . free .
• Ophoff RA . 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 . Eur. J. Hum. Genet. . 4 . 6 . 321–8 . 1997 . 9043864 . Terwindt GM . Vergouwe MN . Van Eijk . R . Mohrenweiser . H . Litt . M . Hofker . MH . Haan . J . Ferrari . MD .
• Arendt CW, Ostergaard HL . Identification of the CD45-associated 116-kDa and 80-kDa proteins as the alpha- and beta-subunits of alpha-glucosidase II . J. Biol. Chem. . 272 . 20 . 13117–25 . 1997 . 9148925 . 10.1074/jbc.272.20.13117 . free .
• Suzuki Y . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . Yoshitomo-Nakagawa K . Maruyama K . Suyama . Akira . Sugano . Sumio .
• Brûlé S . 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 . Biol. Reprod. . 62 . 3 . 642–54 . 2000 . 10684806 . 10.1095/biolreprod62.3.642 . Rabahi F . Faure R . Beckers . JF . Silversides . DW . Lussier . JG . 2268/298359 . 29259727 .
• Arendt CW, Ostergaard HL . Two distinct domains of the beta-subunit of glucosidase II interact with the catalytic alpha-subunit . Glycobiology . 10 . 5 . 487–92 . 2000 . 10764837 . 10.1093/glycob/10.5.487 .
• Treml K, Meimaroglou D, Hentges A, Bause E . The alpha- and beta-subunits are required for expression of catalytic activity in the hetero-dimeric glucosidase II complex from human liver . Glycobiology . 10 . 5 . 493–502 . 2000 . 10764838 . 10.1093/glycob/10.5.493 . free .
• Pelletier MF . The heterodimeric structure of glucosidase II is required for its activity, solubility, and localization in vivo . Glycobiology . 10 . 8 . 815–27 . 2000 . 10929008 . 10.1093/glycob/10.8.815 . Marcil A . Sevigny G . Jakob . CA . Tessier . DC . Chevet . E . Menard . R . Bergeron . JJ . Thomas . DY .
• Reynolds DM . Identification of a Locus for Autosomal Dominant Polycystic Liver Disease, on Chromosome 19p13.2-13.1 . Am. J. Hum. Genet. . 67 . 6 . 1598–604 . 2001 . 11047756 . 10.1086/316904 . 1287938 . Falk CT . Li A . King . B . Kamath . P . Hustoniii . J . Shub . C . Iglesias . D . Martin . R .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . Feingold EA . Grouse LH . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Li A . Mutations in PRKCSH Cause Isolated Autosomal Dominant Polycystic Liver Disease . Am. J. Hum. Genet. . 72 . 3 . 691–703 . 2003 . 12529853 . 10.1086/368295 . 1180260 . Davila S . Furu L . Qian . Qi . Tian . Xin . Kamath . Patrick S. . King . Bernard F. . Torres . Vicente E. . Somlo . Stefan .
• Drenth JP . Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease . Nat. Genet. . 33 . 3 . 345–7 . 2003 . 12577059 . 10.1038/ng1104 . te Morsche RH . Smink R . Bonifacino . Juan S. . Jansen . Jan B.M.J. . 34672886 .
• Gevaert K . Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides . Nat. Biotechnol. . 21 . 5 . 566–9 . 2004 . 12665801 . 10.1038/nbt810 . Goethals M . Martens L . Van Damme . Jozef . Staes . An . Thomas . Grégoire R. . Vandekerckhove . Joël . 23783563 .

Notes and References

1. Web site: Entrez Gene: PRKCSH protein kinase C substrate 80K-H.