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Extracellular matrix protein 1

{{Short description|Protein found in humans}}

{{Infobox_gene}}

Extracellular matrix protein 1 is a protein that in humans is encoded by the ECM1 gene.{{cite journal | vauthors = Smits P, Ni J, Feng P, Wauters J, Van Hul W, Boutaibi ME, Dillon PJ, Merregaert J | title = The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization | journal = Genomics | volume = 45 | issue = 3 | pages = 487–95 |date=Jan 1998 | pmid = 9367673 | doi = 10.1006/geno.1997.4918 }}{{cite journal | vauthors = Johnson MR, Wilkin DJ, Vos HL, Ortiz de Luna RI, Dehejia AM, Polymeropoulos MH, Francomano CA | title = Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21 | journal = Matrix Biol. | volume = 16 | issue = 5 | pages = 289–92 |date=May 1998 | pmid = 9501329 | doi =10.1016/S0945-053X(97)90017-2 | url = https://zenodo.org/record/1260153 }}{{cite web | title = Entrez Gene: ECM1 extracellular matrix protein 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1893}}

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.{{cite web | title = Entrez Gene: ECM1 extracellular matrix protein 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1893}}

Diseases

ECM1 is implicated in breast cancer, thyroid cancer, hepatocellular carcinoma, and other cancers, and also in ulcerative colitis{{Cite web|url=http://atlasgeneticsoncology.org/Genes/ECM1ID40398ch1q21.html|title = ECM1 (Extracellular matrix protein 1)}}. 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{{cite web|url=http://Atlasgeneticsoncology.org|title=Atlas of Genetics and Cytogenetics in Oncology and Haematology|work=atlasgeneticsoncology.org}}).

See also

References

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Further reading

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  • {{cite journal | vauthors=Viliavin GD, Panchenko KP, Nishanov F, Budaev KD |title=[Acid-producing function of the stomach in pyloric ulcers] |journal=Sovetskaia Meditsina |issue= 12 |pages= 43–5 |year= 1978 |pmid= 601588 }}
  • {{cite journal | vauthors=Smits P, Poumay Y, Karperien M |title=Differentiation-dependent alternative splicing and expression of the extracellular matrix protein 1 gene in human keratinocytes. |journal=J. Invest. Dermatol. |volume=114 |issue= 4 |pages= 718–24 |year= 2000 |pmid= 10733679 |doi= 10.1046/j.1523-1747.2000.00916.x |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Hamada T, McLean WH, Ramsay M |title=Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). |journal=Hum. Mol. Genet. |volume=11 |issue= 7 |pages= 833–40 |year= 2002 |pmid= 11929856 |doi=10.1093/hmg/11.7.833 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Hamada T, Wessagowit V, South AP |title=Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. |journal=J. Invest. Dermatol. |volume=120 |issue= 3 |pages= 345–50 |year= 2003 |pmid= 12603844 |doi= 10.1046/j.1523-1747.2003.12073.x |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Matsuda A, Suzuki Y, Honda G |title=Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. |journal=Oncogene |volume=22 |issue= 21 |pages= 3307–18 |year= 2003 |pmid= 12761501 |doi= 10.1038/sj.onc.1206406 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Wang L, Yu J, Ni J |title=Extracellular matrix protein 1 (ECM1) is over-expressed in malignant epithelial tumors. |journal=Cancer Lett. |volume=200 |issue= 1 |pages= 57–67 |year= 2003 |pmid= 14550953 |doi=10.1016/S0304-3835(03)00350-1 |display-authors=etal}}
  • {{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Horev L, Potikha T, Ayalon S |title=A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis. |journal=Exp. Dermatol. |volume=14 |issue= 12 |pages= 891–7 |year= 2006 |pmid= 16274456 |doi= 10.1111/j.1600-0625.2005.00374.x |s2cid=25598548 |display-authors=etal}}
  • {{cite journal | vauthors=Liu T, Qian WJ, Gritsenko MA |title=Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. |journal=J. Proteome Res. |volume=4 |issue= 6 |pages= 2070–80 |year= 2006 |pmid= 16335952 |doi= 10.1021/pr0502065 | pmc=1850943 |display-authors=etal}}
  • {{cite journal | vauthors=Fujimoto N, Terlizzi J, Aho S |title=Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions. |journal=Exp. Dermatol. |volume=15 |issue= 4 |pages= 300–7 |year= 2006 |pmid= 16512877 |doi= 10.1111/j.0906-6705.2006.00409.x |s2cid=40715604 |display-authors=etal}}
  • {{cite journal | vauthors=Lim J, Hao T, Shaw C |title=A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. |journal=Cell |volume=125 |issue= 4 |pages= 801–14 |year= 2006 |pmid= 16713569 |doi= 10.1016/j.cell.2006.03.032 |s2cid=13709685 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Han B, Zhang X, Liu Q |title=Homozygous missense mutation in the ECM1 gene in Chinese siblings with lipoid proteinosis. |journal=Acta Derm. Venereol. |volume=87 |issue= 5 |pages= 387–9 |year= 2007 |pmid= 17721643 |doi= 10.2340/00015555-0292 |display-authors=etal|doi-access=free }}

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{{Fibrous proteins}}

Category:Extracellular matrix proteins

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