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Gene Review

SUPT20H  -  suppressor of Ty 20 homolog (S. cerevisiae)

Homo sapiens

Synonyms: C13, C13orf19, FAM48A, FP757, P38IP, ...
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Disease relevance of FAM48A


High impact information on FAM48A

  • Amino acid substitutions predicted to disrupt either the amphipathic or alpha-helical nature of C13 rendered the peptide inactive [5].
  • An antiserum prepared against purified surface membranes of transformed BHK21/C13 cells (C13/B4) reversibly rounded and detached hamster cells from plastic tissue culture plates but did not affect cells of other species [6].
  • It was found that luminamicin has the S, S, R, R, R, R, S, S, S, R, and S configurations at C2, C4, C7, C9, C10, C11, C12, C13, C16, C28, and C29, respectively [7].
  • The hydrophobic region from C13 to C19 is also essential in binding and appears to act as an anchor in a hydrophobic domain of the glucose carrier [8].
  • These changes can be observed with water-suppressed proton (H-1) and carbon-13 (C-13) nuclear magnetic resonance spectroscopy (NMR) and gas chromatography [9].

Chemical compound and disease context of FAM48A


Biological context of FAM48A

  • Quantitative real-time PCR was performed for C13orf19, a gene located on chromosome 13q and previously described to be down-regulated in prostate carcinoma, on different cancer cell lines, on matched prostate tissues from 61 patients with prostate carcinoma and on matched kidney tissues from 23 patients with renal clear cell carcinoma [2].
  • However, an at least 1.5-fold C13orf19 mRNA downregulation was observed in samples from 28 patients (46%) and an at least 1.5-fold upregulation was observed in samples from 17 patients (28%) [2].
  • In addition, in these samples the C-13 NMR spectra showed direct evidence of lipid peroxidation products [9].
  • Cytokines, known to be released in response to malignant tumor cells and to affect lipid metabolism, were injected into normal mice and their effects on the H-1 and C-13 NMR spectra of plasma lipids were observed [9].
  • The most prominent metabolite, termed M5, corresponded to an hydroxylation at the C6 position on the taxane ring, while the other metabolite, termed M4, corresponded to an hydroxylation at the para-position on the phenyl ring at the C3'-position of the C13 side chain [15].

Anatomical context of FAM48A

  • BHK21/C13 and various BHK21 tumors all appeared to grow to concentration densities markedly higher than hamster embryo fibroblasts [16].
  • A main docetaxel metabolite was generated by human liver microsomes in the presence of NADPH: retention time in high pressure liquid chromatography and its ion fragmentation in mass spectrometry were identical to those of the authentic derivative hydroxylated at the butyl group of the C13 side chain [17].
  • Three human tumor cell lines made resistant to cis-diamminedichloroplatinum(II) (CDDP), SCC-25/CP, MCF-7/CP, and C13, are more sensitive to rhodamine-123 [tetrachloroplatinum(II)] [(PtCl4(Rh-123)2] than are the corresponding parental cell lines [18].
  • A second enzymic activity detected in the oocytes (hydroperoxide lyase) cleaves specifically the (8R)-hydroperoxy substrate into C7 and C13 fragments, identified as the hydroxyacid, (5Z)-7-hydroxyheptenoic acid, and two aldehydes, (2E,4Z,7Z)-tridecenal and its 4E isomer [19].
  • Human granulocyte colony stimulating factor (G-CSF) can support the survival and short term proliferation of the interleukin 3 (IL 3)-dependent diploid murine hemopoietic progenitor cell line 32D C13 [20].

Associations of FAM48A with chemical compounds

  • These results indicate that the bypass response in the C13* line has some degree of specificity for cisplatin adducts [21].
  • The DN reductase associated with CBR reduces the C13 methyl ketone group and does not metabolize the quinone ring of DN [22].
  • RH4 cells displayed the same DDP accumulation defect, 2-fold elevated glutathione levels and 2-fold resistance to CdCl2 as C13* cells [3].
  • We then examined the specificity of this enhanced bypass by repeating the steady-state assay with the 2008 and C13* lines using as damaging agents 1,2-diaminocyclohexanedichloroplatinum(II), UV radiation (producing pyrimidine dimers), and benzo(a)pyrene-7,8-diol-9,10-epoxide [21].
  • We have investigated the inhibition of the recently identified family C13 cysteine peptidase, pig legumain, by human cystatin C [23].

Analytical, diagnostic and therapeutic context of FAM48A


  1. Identification of a novel gene on chromosome 13 between BRCA-2 and RB-1. Schmidt, U., Fiedler, U., Pilarsky, C.P., Ehlers, W., Füssel, S., Haase, M., Faller, G., Sauter, G., Wirth, M.P. Prostate (2001) [Pubmed]
  2. Quantification of C13orf19/P38IP mRNA expression by quantitative real-time PCR in patients with urological malignancies. Schmidt, U., Fuessel, S., Haase, M., Kraemer, K., Meye, A., Wirth, M.P. Cancer Lett. (2005) [Pubmed]
  3. Loss of cis-diamminedichloroplatinum(II) resistance in human ovarian carcinoma cells selected for rhodamine 123 resistance. Zinkewich-Péotti, K., Andrews, P.A. Cancer Res. (1992) [Pubmed]
  4. Glycopeptides derived from individual membrane glycoproteins from control and Rous sarcoma virus-transformed hamster fibroblasts. Tuszynski, G.P., Baker, S.R., Fuhrer, J.P., Buck, C.A., Warren, L. J. Biol. Chem. (1978) [Pubmed]
  5. Peptides related to the carboxyl terminus of human platelet factor IV with antibacterial activity. Darveau, R.P., Blake, J., Seachord, C.L., Cosand, W.L., Cunningham, M.D., Cassiano-Clough, L., Maloney, G. J. Clin. Invest. (1992) [Pubmed]
  6. Studies on the function of cell surface glycoproteins. I. Use of antisera to surface membranes in the identification of membrane components relevant to cell-substrate adhesion. Wylie, D.E., Damsky, C.H., Buck, C.A. J. Cell Biol. (1979) [Pubmed]
  7. Stereostructure of luminamicin, an anaerobic antibiotic, via molecular dynamics, NMR spectroscopy, and the modified Mosher method. Gouda, H., Sunazuka, T., Ui, H., Handa, M., Sakoh, Y., Iwai, Y., Hirono, S., Omura, S. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  8. Inhibition of glucose transport in human erythrocytes by cytochalasins: A model based on diffraction studies. Griffin, J.F., Rampal, A.L., Jung, C.Y. Proc. Natl. Acad. Sci. U.S.A. (1982) [Pubmed]
  9. Effects of tumor necrosis factor-alpha on peroxidation of plasma lipoprotein lipids in experimental animals and patients. McDonagh, J., Fossel, E.T., Kradin, R.L., Dubinett, S.M., Laposata, M., Hallaq, Y.A. Blood (1992) [Pubmed]
  10. Glycosaminoglycans and other carbohydrate groups bound to proteins of control and transformed cells. Baker, S.R., Blithe, D.L., Buck, C.A., Warren, L. J. Biol. Chem. (1980) [Pubmed]
  11. Spermidine/spermine N1-acetyltransferase transient overexpression restores sensitivity of resistant human ovarian cancer cells to N1,N12-bis(ethyl)spermine and to cisplatin. Marverti, G., Giuseppina Monti, M., Pegg, A.E., McCloskey, D.E., Bettuzzi, S., Ligabue, A., Caporali, A., D'Arca, D., Moruzzi, M.S. Carcinogenesis (2005) [Pubmed]
  12. Membrane glycopeptides from virus-transformed hamster fibroblasts and the normal counterpart. Glick, M.C. Biochemistry (1979) [Pubmed]
  13. Rifabutin- and furazolidone-based Helicobacter pylori eradication therapies after failure of standard first- and second-line eradication attempts in dyspepsia patients. Qasim, A., Sebastian, S., Thornton, O., Dobson, M., McLoughlin, R., Buckley, M., O'Connor, H., O'Morain, C. Aliment. Pharmacol. Ther. (2005) [Pubmed]
  14. Spermine toxicity and glutathione depletion in BHK-21/C13 cells. Brunton, V.G., Grant, M.H., Wallace, H.M. Biochem. Pharmacol. (1990) [Pubmed]
  15. Taxol metabolism by human liver microsomes: identification of cytochrome P450 isozymes involved in its biotransformation. Cresteil, T., Monsarrat, B., Alvinerie, P., Tréluyer, J.M., Vieira, I., Wright, M. Cancer Res. (1994) [Pubmed]
  16. Loss of controlled nuclear division in BHK21 cells passed in vivo. O'Neill, F.J. Cancer Res. (1976) [Pubmed]
  17. Metabolism of docetaxel by human cytochromes P450: interactions with paclitaxel and other antineoplastic drugs. Royer, I., Monsarrat, B., Sonnier, M., Wright, M., Cresteil, T. Cancer Res. (1996) [Pubmed]
  18. cis-Diamminedichloroplatinum(II) resistant human tumor cell lines are collaterally sensitive to PtCl4(Rh-123)2: evidence for mitochondrial involvement. Ara, G., Kusumoto, T., Korbut, T.T., Cullere-Luengo, F., Teicher, B.A. Cancer Res. (1994) [Pubmed]
  19. Allene oxide and aldehyde biosynthesis in starfish oocytes. Brash, A.R., Hughes, M.A., Hawkins, D.J., Boeglin, W.E., Song, W.C., Meijer, L. J. Biol. Chem. (1991) [Pubmed]
  20. Cytokine-dependent granulocytic differentiation. Regulation of proliferative and differentiative responses in a murine progenitor cell line. Valtieri, M., Tweardy, D.J., Caracciolo, D., Johnson, K., Mavilio, F., Altmann, S., Santoli, D., Rovera, G. J. Immunol. (1987) [Pubmed]
  21. Enhanced replicative bypass of platinum-DNA adducts in cisplatin-resistant human ovarian carcinoma cell lines. Mamenta, E.L., Poma, E.E., Kaufmann, W.K., Delmastro, D.A., Grady, H.L., Chaney, S.G. Cancer Res. (1994) [Pubmed]
  22. Protection against daunorubicin cytotoxicity by expression of a cloned human carbonyl reductase cDNA in K562 leukemia cells. Gonzalez, B., Akman, S., Doroshow, J., Rivera, H., Kaplan, W.D., Forrest, G.L. Cancer Res. (1995) [Pubmed]
  23. Inhibition of mammalian legumain by some cystatins is due to a novel second reactive site. Alvarez-Fernandez, M., Barrett, A.J., Gerhartz, B., Dando, P.M., Ni, J., Abrahamson, M. J. Biol. Chem. (1999) [Pubmed]
  24. Increased expression of dihydrodiol dehydrogenase induces resistance to cisplatin in human ovarian carcinoma cells. Deng, H.B., Parekh, H.K., Chow, K.C., Simpkins, H. J. Biol. Chem. (2002) [Pubmed]
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