Extracellular matrix protein 1

Extracellular matrix protein 1 is a protein that in humans is encoded by the ECM1 gene.[5][6][7]

ECM1
Identifiers
Aliases	ECM1, URBWD, extracellular matrix protein 1
External IDs	OMIM: 602201 MGI: 103060 HomoloGene: 3260 GeneCards: ECM1
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q21.2 Start 150,508,062 bp[1] End 150,513,789 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 F2.1|3 40.91 cM Start 95,734,147 bp[2] End 95,739,569 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • interleukin-2 receptor binding • signal transducer activity • protease binding • protein C-terminus binding • GO:0001948 protein binding • enzyme binding • laminin binding Cellular component • extracellular matrix • proteinaceous extracellular matrix • extracellular exosome • extracellular region • platelet dense granule lumen • extracellular Biological process • regulation of T cell migration • negative regulation of peptidase activity • negative regulation of bone mineralization • positive regulation of endothelial cell proliferation • ossification • regulation of bone mineralization • regulation of transcription from RNA polymerase II promoter • biomineral tissue development • negative regulation of cytokine-mediated signaling pathway • positive regulation of angiogenesis • angiogenesis • positive regulation of I-kappaB kinase/NF-kappaB signaling • inflammatory response • regulation of type 2 immune response • platelet degranulation • signal transduction Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	1893	13601
Ensembl	ENSG00000143369	ENSMUSG00000028108
UniProt	Q16610	Q61508
RefSeq (mRNA)	NM_022664 NM_001202858 NM_004425	NM_001252653 NM_007899 NM_001355070
RefSeq (protein)	NP_001189787 NP_004416 NP_073155	NP_001239582 NP_031925 NP_001341999
Location (UCSC)	Chr 1: 150.51 – 150.51 Mb	Chr 3: 95.73 – 95.74 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

• Lipoid proteinosis

References

1. GRCh38: Ensembl release 89: ENSG00000143369 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028108 - 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.
5. 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.
6. 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.
7. "Entrez Gene: ECM1 extracellular matrix protein 1".
8. http://atlasgeneticsoncology.org/Genes/ECM1ID40398ch1q21.html
9. "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. 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.
• 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.
• 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.
• 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.