Cystatin E/M, also known as CST6, is a human gene. The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome The Mouse Genome Informatics (MGI website is run by The Jackson Laboratory. HomoloGene, a tool of the National Center for Biotechnology Information (NCBI is a system for automated detection of homologs (similarity attributable to descent The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent UniProt is the uni versal prot ein resource a central repository of Protein data created by combining Swiss-Prot, TrEMBL PubMed is a free search engine for accessing the MEDLINE database of citations and abstracts of biomedical research articles History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance [1]
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. This gene encodes a cystatin from the type 2 family, which is down-regulated in metastatic breast tumor cells as compared to primary tumor cells. Loss of expression is likely associated with the progression of a primary tumor to a metastatic phenotype. [1]
References
Further reading
- Brown WM, Dziegielewska KM (1997). "Friends and relations of the cystatin superfamily--new members and their evolution. ". Protein Sci. 6 (1): 5–12. PMID 9007972.
- Barka T, Asbell PA, van der Noen H, Prasad A (1991). "Cystatins in human tear fluid. ". Curr. Eye Res. 10 (1): 25–34. PMID 2029847.
- Saitoh E, Isemura S, Sanada K, et al. (1989). "Cystatin superfamily. Evidence that family II cystatin genes are evolutionarily related to family III cystatin genes. ". Biol. Chem. Hoppe-Seyler 369 Suppl: 191–7. PMID 3202964.
- Thiesse M, Millar SJ, Dickinson DP (1994). "The human type 2 cystatin gene family consists of eight to nine members, with at least seven genes clustered at a single locus on human chromosome 20. ". DNA Cell Biol. 13 (2): 97–116. PMID 8179826.
- Sotiropoulou G, Anisowicz A, Sager R (1997). "Identification, cloning, and characterization of cystatin M, a novel cysteine proteinase inhibitor, down-regulated in breast cancer. ". J. Biol. Chem. 272 (2): 903–10. PMID 8995380.
- Ni J, Abrahamson M, Zhang M, et al. (1997). "Cystatin E is a novel human cysteine proteinase inhibitor with structural resemblance to family 2 cystatins. ". J. Biol. Chem. 272 (16): 10853–8. PMID 9099741.
- Stenman G, Aström AK, Röijer E, et al. (1997). "Assignment of a novel cysteine proteinase inhibitor (CST6) to 11q13 by fluorescence in situ hybridization. ". Cytogenet. Cell Genet. 76 (1-2): 45–6. PMID 9154125.
- Zeeuwen PL, Van Vlijmen-Willems IM, Jansen BJ, et al. (2001). "Cystatin M/E expression is restricted to differentiated epidermal keratinocytes and sweat glands: a new skin-specific proteinase inhibitor that is a target for cross-linking by transglutaminase. ". J. Invest. Dermatol. 116 (5): 693–701. doi:10.1046/j.1523-1747.2001.01309.x. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 11348457.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 12477932.
- Zeeuwen PL, Dale BA, de Jongh GJ, et al. (2003). "The human cystatin M/E gene (CST6): exclusion candidate gene for harlequin ichthyosis. ". J. Invest. Dermatol. 121 (1): 65–8. doi:10.1046/j.1523-1747.2003.12312.x. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 12839564.
- Shridhar R, Zhang J, Song J, et al. (2004). "Cystatin M suppresses the malignant phenotype of human MDA-MB-435S cells. ". Oncogene 23 (12): 2206–15. doi:10.1038/sj.onc.1207340. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 14676833.
- Zhang J, Shridhar R, Dai Q, et al. (2004). "Cystatin m: a novel candidate tumor suppressor gene for breast cancer. ". Cancer Res. 64 (19): 6957–64. doi:10.1158/0008-5472.CAN-04-0819. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 15466187.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). ". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 15489334.
- Song J, Jie C, Polk P, et al. (2006). "The candidate tumor suppressor CST6 alters the gene expression profile of human breast carcinoma cells: down-regulation of the potent mitogenic, motogenic, and angiogenic factor autotaxin. ". Biochem. Biophys. Res. Commun. 340 (1): 175–82. doi:10.1016/j.bbrc.2005.11.171. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 16356477.
- Cheng T, Hitomi K, van Vlijmen-Willems IM, et al. (2006). "Cystatin M/E is a high affinity inhibitor of cathepsin V and cathepsin L by a reactive site that is distinct from the legumain-binding site. A novel clue for the role of cystatin M/E in epidermal cornification. ". J. Biol. Chem. 281 (23): 15893–9. doi:10.1074/jbc.M600694200. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 16565075.
- Ai L, Kim WJ, Kim TY, et al. (2007). "Epigenetic silencing of the tumor suppressor cystatin M occurs during breast cancer progression. ". Cancer Res. 66 (16): 7899–909. doi:10.1158/0008-5472.CAN-06-0576. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 16912163.
- Rivenbark AG, Jones WD, Coleman WB (2007). "DNA methylation-dependent silencing of CST6 in human breast cancer cell lines. ". Lab. Invest. 86 (12): 1233–42. doi:10.1038/labinvest.3700485. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 17043665.
- Schagdarsurengin U, Pfeifer GP, Dammann R (2007). "Frequent epigenetic inactivation of cystatin M in breast carcinoma. ". Oncogene 26 (21): 3089–94. doi:10.1038/sj.onc.1210107. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 17099723.
- Rivenbark AG, Livasy CA, Boyd CE, et al. (2007). "Methylation-dependent silencing of CST6 in primary human breast tumors and metastatic lesions. ". Exp. Mol. Pathol. 83 (2): 188–97. doi:10.1016/j.yexmp.2007.03.008. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 17540367.
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