Protein found in humans
Extracellular matrix protein 1 is a protein that in humans is encoded by the ECM1 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 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.[ 7]
Diseases ECM1 is implicated in breast cancer , thyroid cancer , hepatocellular carcinoma , and other cancers, and also in ulcerative colitis [ 8] 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 [ 9]
See also
References
^ 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 .
Further reading
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 .
