Protein found in humans
Extracellular matrix protein 1 is aprotein that in humans is encoded by theECM1 gene .[ 5] [ 6] [ 7]
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 theepidermal differentiation complex (EDC), a cluster of three gene families involved in epidermal differentiation. Alternatively spliced transcript variants encoding distinct isoforms have been described.[ 7]
ECM1 is implicated inbreast cancer ,thyroid cancer ,hepatocellular carcinoma , and other cancers, and also inulcerative colitis [ 8] Germline mutations in ECM-1 cause the genetic diseaselipoid proteinosis . Autoimmune attack on ECM-1 is responsible forlichen sclerosus . (see theAtlas of Genetics and Cytogenetics in Oncology and Haematology [ 9]
^a b c GRCh38: Ensembl release 89: ENSG00000143369 –Ensembl , May 2017^a b c GRCm38: Ensembl release 89: ENSMUSG00000028108 –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 .^ Smits P, Ni J, Feng P, Wauters J, Van Hul W, Boutaibi ME, Dillon PJ, Merregaert J (Jan 1998). "The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization".Genomics .45 (3):487– 95.doi :10.1006/geno.1997.4918 .PMID 9367673 . ^ Johnson MR, Wilkin DJ, Vos HL, Ortiz de Luna RI, Dehejia AM, Polymeropoulos MH, Francomano CA (May 1998)."Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21" .Matrix Biol .16 (5):289– 92.doi :10.1016/S0945-053X(97)90017-2 .PMID 9501329 . ^a b "Entrez Gene: ECM1 extracellular matrix protein 1" .^ "ECM1 (Extracellular matrix protein 1)" .^ "Atlas of Genetics and Cytogenetics in Oncology and Haematology" .atlasgeneticsoncology.org .Viliavin GD, Panchenko KP, Nishanov F, Budaev KD (1978). "[Acid-producing function of the stomach in pyloric ulcers]".Sovetskaia Meditsina (12):43– 5.PMID 601588 . Smits P, Poumay Y, Karperien M, et al. (2000)."Differentiation-dependent alternative splicing and expression of the extracellular matrix protein 1 gene in human keratinocytes" .J. Invest. Dermatol .114 (4):718– 24.doi :10.1046/j.1523-1747.2000.00916.x PMID 10733679 . Hamada T, McLean WH, Ramsay M, et al. (2002)."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.doi :10.1093/hmg/11.7.833 PMID 11929856 . 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 . Hamada T, Wessagowit V, South AP, et al. (2003)."Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation" .J. Invest. Dermatol .120 (3):345– 50.doi :10.1046/j.1523-1747.2003.12073.x PMID 12603844 . Matsuda A, Suzuki Y, Honda G, et al. (2003)."Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways" .Oncogene .22 (21):3307– 18.doi :10.1038/sj.onc.1206406 PMID 12761501 . Wang L, Yu J, Ni J, et al. (2003). "Extracellular matrix protein 1 (ECM1) is over-expressed in malignant epithelial tumors".Cancer Lett .200 (1):57– 67.doi :10.1016/S0304-3835(03)00350-1 .PMID 14550953 . Ota T, Suzuki Y, Nishikawa T, et al. (2004)."Complete sequencing and characterization of 21,243 full-length human cDNAs" .Nat. Genet .36 (1):40– 5.doi :10.1038/ng1285 PMID 14702039 . Horev L, Potikha T, Ayalon S, et al. (2006). "A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis".Exp. Dermatol .14 (12):891– 7.doi :10.1111/j.1600-0625.2005.00374.x .PMID 16274456 .S2CID 25598548 . Liu T, Qian WJ, Gritsenko MA, et al. (2006)."Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry" .J. Proteome Res .4 (6):2070– 80.doi :10.1021/pr0502065 .PMC 1850943 PMID 16335952 . Fujimoto N, Terlizzi J, Aho S, et al. (2006). "Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions".Exp. Dermatol .15 (4):300– 7.doi :10.1111/j.0906-6705.2006.00409.x .PMID 16512877 .S2CID 40715604 . Lim J, Hao T, Shaw C, et al. (2006)."A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration" .Cell .125 (4):801– 14.doi :10.1016/j.cell.2006.03.032 PMID 16713569 .S2CID 13709685 . Han B, Zhang X, Liu Q, et al. (2007)."Homozygous missense mutation in the ECM1 gene in Chinese siblings with lipoid proteinosis" .Acta Derm. Venereol .87 (5):387– 9.doi :10.2340/00015555-0292 PMID 17721643 .
