Extracellular matrix protein 1 explained

Extracellular matrix protein 1 is a protein that in humans is encoded by the ECM1 gene.^{[1] [2] [3]}

This gene encodes an extracellular protein containing motifs with a cysteine pattern characteristic of the cysteine pattern of the ligand-binding "double-loop" domains of the albumin protein family. This gene maps outside the epidermal differentiation complex (EDC), a cluster of three gene families involved in epidermal differentiation. Alternatively spliced transcript variants encoding distinct isoforms have been described.^[4]

Diseases

ECM1 is implicated in breast cancer, thyroid cancer, hepatocellular carcinoma, and other cancers, and also in ulcerative colitis^[5] Germline mutations in ECM-1 cause the genetic disease lipoid proteinosis. Autoimmune attack on ECM-1 is responsible for lichen sclerosus.(see the Atlas of Genetics and Cytogenetics in Oncology and Haematology,^[6]).

See also

• Lipoid proteinosis

Further reading

• Viliavin GD, Panchenko KP, Nishanov F, Budaev KD . [Acid-producing function of the stomach in pyloric ulcers] . Sovetskaia Meditsina . 12 . 43–5 . 1978 . 601588 .
• Smits P, Poumay Y, Karperien M . Differentiation-dependent alternative splicing and expression of the extracellular matrix protein 1 gene in human keratinocytes. . J. Invest. Dermatol. . 114 . 4 . 718–24 . 2000 . 10733679 . 10.1046/j.1523-1747.2000.00916.x . etal. free .
• Hamada T, McLean WH, Ramsay M . Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). . Hum. Mol. Genet. . 11 . 7 . 833–40 . 2002 . 11929856 . 10.1093/hmg/11.7.833 . etal. free .
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2002PNAS...9916899M . etal. free .
• Hamada T, Wessagowit V, South AP . Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. . J. Invest. Dermatol. . 120 . 3 . 345–50 . 2003 . 12603844 . 10.1046/j.1523-1747.2003.12073.x . etal. free .
• Matsuda A, Suzuki Y, Honda G . Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. . Oncogene . 22 . 21 . 3307–18 . 2003 . 12761501 . 10.1038/sj.onc.1206406 . etal. free .
• Wang L, Yu J, Ni J . Extracellular matrix protein 1 (ECM1) is over-expressed in malignant epithelial tumors. . Cancer Lett. . 200 . 1 . 57–67 . 2003 . 14550953 . 10.1016/S0304-3835(03)00350-1 . etal.
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Horev L, Potikha T, Ayalon S . A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis. . Exp. Dermatol. . 14 . 12 . 891–7 . 2006 . 16274456 . 10.1111/j.1600-0625.2005.00374.x . 25598548 . etal.
• Liu T, Qian WJ, Gritsenko MA . Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. . J. Proteome Res. . 4 . 6 . 2070–80 . 2006 . 16335952 . 10.1021/pr0502065 . 1850943 . etal.
• Fujimoto N, Terlizzi J, Aho S . Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions. . Exp. Dermatol. . 15 . 4 . 300–7 . 2006 . 16512877 . 10.1111/j.0906-6705.2006.00409.x . 40715604 . etal.
• Lim J, Hao T, Shaw C . A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. . Cell . 125 . 4 . 801–14 . 2006 . 16713569 . 10.1016/j.cell.2006.03.032 . 13709685 . etal. free .
• Han B, Zhang X, Liu Q . Homozygous missense mutation in the ECM1 gene in Chinese siblings with lipoid proteinosis. . Acta Derm. Venereol. . 87 . 5 . 387–9 . 2007 . 17721643 . 10.2340/00015555-0292 . etal. free .

Notes and References

1. Smits P, Ni J, Feng P, Wauters J, Van Hul W, Boutaibi ME, Dillon PJ, Merregaert J . The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization . Genomics . 45 . 3 . 487–95 . Jan 1998 . 9367673 . 10.1006/geno.1997.4918 .
2. Johnson MR, Wilkin DJ, Vos HL, Ortiz de Luna RI, Dehejia AM, Polymeropoulos MH, Francomano CA . Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21 . Matrix Biol. . 16 . 5 . 289–92 . May 1998 . 9501329 . 10.1016/S0945-053X(97)90017-2 .
3. Web site: Entrez Gene: ECM1 extracellular matrix protein 1.
4. Web site: Entrez Gene: ECM1 extracellular matrix protein 1.
5. Web site: ECM1 (Extracellular matrix protein 1).
6. Web site: Atlas of Genetics and Cytogenetics in Oncology and Haematology. atlasgeneticsoncology.org.