Extracellular matrix protein 1

ECM1
Identifiers
Aliases	ECM1 , URBWD, extracellular matrix protein 1
External IDs	OMIM: 602201; MGI: 103060; HomoloGene: 3260; GeneCards: ECM1; OMA:ECM1 - orthologs
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 95,641,459 bp [2] End 95,646,881 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell mucosa of pharynx stromal cell of endometrium oral cavity tail of epididymis gallbladder amniotic fluid body of tongue epithelium of esophagus corpus epididymis Top expressed in esophagus adrenal gland urinary bladder lip zone of skin white adipose tissue human kidney right kidney liver duodenum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function interleukin-2 receptor binding signal transducer activity protease binding protein C-terminus binding protein binding enzyme binding laminin binding Cellular component extracellular matrix extracellular exosome extracellular region platelet dense granule lumen extracellular space 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 by RNA polymerase II 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: 95.64 – 95.65 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

• 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. "ECM1 (Extracellular matrix protein 1)"..
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. 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.