CST6 (gene)

CST6
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4N6L, 4N6M, 4N6N, 4N6O
Identifiers
Aliases	CST6 , cystatin E/M, ECTD15
External IDs	OMIM: 601891; MGI: 1920970; HomoloGene: 1011; GeneCards: CST6; OMA:CST6 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	66,013,505 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	5,399,602 bp
RNA expression pattern
	Top expressed in
	skin of arm; ; skin of thigh; ; skin of abdomen; ; vulva; ; nipple; ; skin of hip; ; hair follicle; ; right uterine tube; ; Descending thoracic aorta; ; human penis;
	Top expressed in
	lip; ; skin of external ear; ; esophagus; ; skin of back; ; duodenum; ; ileum; ; muscle of thigh; ; intestinal villus; ; jejunum; ; lumbar spinal ganglion;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	peptidase inhibitor activity ; protease binding ; cysteine-type endopeptidase inhibitor activity ;
Cellular component	extracellular region ; extracellular exosome ; cornified envelope ; extracellular space ;
Biological process	anatomical structure morphogenesis ; negative regulation of peptidase activity ; epidermis development ; negative regulation of cysteine-type endopeptidase activity ; negative regulation of endopeptidase activity ;
	Sources:Amigo / QuickGO
Orthologs
	1474
	73720
	ENSG00000175315
	ENSMUSG00000024846
	Q15828
	Q9D1B1
	NM_001323
	NM_028623
	NP_001314
	NP_082899
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 09, 2024

Cystatin-M is a protein that in humans is encoded by the CST6 gene.^[5]^[6]^[7]

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.^[7]

Related Research Articles

Maspin is a protein that in humans is encoded by the SERPINB5 gene. This protein belongs to the serpin superfamily. SERPINB5 was originally reported to function as a tumor suppressor gene in epithelial cells, suppressing the ability of cancer cells to invade and metastasize to other tissues. Furthermore, and consistent with an important biological function, Maspin knockout mice were reported to be non-viable, dying in early embryogenesis. However, a subsequent study using viral transduction as a method of gene transfer was not able to reproduce the original findings and found no role for maspin in tumour biology. Furthermore, the latter study demonstrated that maspin knockout mice are viable and display no obvious phenotype. These data are consistent with the observation that maspin is not expressed in early embryogenesis. The precise molecular function of maspin is thus currently unknown.

Cathepsin L1 is a protein that in humans is encoded by the CTSL1 gene. The protein is a cysteine cathepsin, a lysosomal cysteine protease that plays a major role in intracellular protein catabolism.

<span class="mw-page-title-main">Cystatin A</span> Protein-coding gene in the species Homo sapiens

Cystatin-A is a protein that in humans is encoded by the CSTA gene.

<span class="mw-page-title-main">Cystatin B</span> Protein-coding gene in the species Homo sapiens

Cystatin-B is a protein that in humans is encoded by the CSTB gene.

Suppressor of tumorigenicity 14 protein, also known as matriptase, is a protein that in humans is encoded by the ST14 gene. ST14 orthologs have been identified in most mammals for which complete genome data are available.

Cathepsin H is a protein that in humans is encoded by the CTSH gene.

Cystatin-S is a protein that in humans is encoded by the CST4 gene.

Serpin B4 is a protein that in humans is encoded by the SERPINB4 gene.

Cystatin-SN is a protein that in humans is encoded by the CST1 gene.

Cystatin-SA is a protein that in humans is encoded by the CST2 gene.

Reversion-inducing-cysteine-rich protein with kazal motifs, also known as RECK, is a human gene, thought to be a metastasis suppressor.

Cystatin-F is a protein that in humans is encoded by the CST7 gene.

Cystatin-D is a protein that in humans is encoded by the CST5 gene.

Cathepsin L2 is a protein encoded in humans by the CTSV gene.

Cystatin-8 is a protein that in humans is encoded by the CST8 gene.

Cathepsin F is a protein that in humans is encoded by the CTSF gene.

Cystatin-9-like is a protein that in humans is encoded by the CST9L gene.

Cystatin-11 is a protein that in humans is encoded by the CST11 gene.

Neutrophil collagenase, also known as matrix metalloproteinase-8 (MMP-8) or PMNL collagenase (MNL-CL), is a collagen cleaving enzyme which is present in the connective tissue of most mammals. In humans, the MMP-8 protein is encoded by the MMP8 gene. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the enzyme encoded by this gene is stored in secondary granules within neutrophils and is activated by autolytic cleavage.

Cystatin-like 1 is a protein that in humans is encoded by the CSTL1 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000175315 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024846 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Stenman G, Astrom AK, Roijer E, Sotiropoulou G, Zhang M, Sager R (Jun 1997). "Assignment of a novel cysteine proteinase inhibitor (CST6) to 11q13 by fluorescence in situ hybridization". Cytogenet Cell Genet. 76 (1–2): 45–6. doi:10.1159/000134512. PMID 9154125.
↑ Ni J, Abrahamson M, Zhang M, Fernandez MA, Grubb A, Su J, Yu GL, Li Y, Parmelee D, Xing L, Coleman TA, Gentz S, Thotakura R, Nguyen N, Hesselberg M, Gentz R (May 1997). "Cystatin E is a novel human cysteine proteinase inhibitor with structural resemblance to family 2 cystatins". J Biol Chem. 272 (16): 10853–8. doi: 10.1074/jbc.272.16.10853 . PMID 9099741.
1 2 "Entrez Gene: CST6 cystatin E/M".

External links

The MEROPS online database for peptidases and their inhibitors: I25.006
Human CST6 genome location and CST6 gene details page in the UCSC Genome Browser .

Brown WM, Dziegielewska KM (1997). "Friends and relations of the cystatin superfamily--new members and their evolution". Protein Sci. 6 (1): 5–12. doi:10.1002/pro.5560060102. PMC 2143511 . 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. doi:10.3109/02713689109007608. 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. doi:10.1089/dna.1994.13.97. 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. doi: 10.1074/jbc.272.2.903 . PMID 8995380.
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 . 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . 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 . 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 . 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. PMID 15466187. S2CID 18279057.
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. PMC 528928 . 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. 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 . hdl: 2066/50224 . 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 . 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 . 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. PMID 17099723. S2CID 20497160.
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. PMC 2693953 . PMID 17540367.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000175315 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024846 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9154125-5] Stenman G, Astrom AK, Roijer E, Sotiropoulou G, Zhang M, Sager R (Jun 1997). "Assignment of a novel cysteine proteinase inhibitor (CST6) to 11q13 by fluorescence in situ hybridization". Cytogenet Cell Genet. 76 (1–2): 45–6. doi:10.1159/000134512. PMID 9154125.

[pmid9099741-6] Ni J, Abrahamson M, Zhang M, Fernandez MA, Grubb A, Su J, Yu GL, Li Y, Parmelee D, Xing L, Coleman TA, Gentz S, Thotakura R, Nguyen N, Hesselberg M, Gentz R (May 1997). "Cystatin E is a novel human cysteine proteinase inhibitor with structural resemblance to family 2 cystatins". J Biol Chem. 272 (16): 10853–8. doi: 10.1074/jbc.272.16.10853 . PMID 9099741.

[entrez-7] 1 2 "Entrez Gene: CST6 cystatin E/M".

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CST6 (gene)

Contents

Related Research Articles

References

External links

Further reading