ECM1

Summary

Gene Symbol: ECM1
Description: extracellular matrix protein 1
Alias: URBWD, extracellular matrix protein 1, secretory component p85, testicular tissue protein Li 61
Species: human
Products:     ECM1

Top Publications

  1. Xiong G, Zhang J, Gu S, Wu Y, Liu J. Overexpression of ECM1 contributes to migration and invasion in cholangiocarcinoma cell. Neoplasma. 2012;59:409-15 pubmed publisher
    Although the expression of extracellular matrix protein-1 (ECM1) has been documented in several tumor models, the function of ECM1 has remained unclear...
  2. Wang L, Yu J, Ni J, Xu X, Wang J, Ning H, et al. Extracellular matrix protein 1 (ECM1) is over-expressed in malignant epithelial tumors. Cancer Lett. 2003;200:57-67 pubmed
    The extracellular matrix protein 1 (ECM1) is a secreted protein that has been implicated with cell proliferation, angiogenesis and differentiation...
  3. Horev L, Potikha T, Ayalon S, Molho Pessach V, Ingber A, Gany M, et al. A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis. Exp Dermatol. 2005;14:891-7 pubmed
    ..This case further emphasizes the role of ECM-1 in LP and highlights the unresolved genotype-phenotype correlation in this disease. ..
  4. Sercu S, Zhang L, Merregaert J. The extracellular matrix protein 1: its molecular interaction and implication in tumor progression. Cancer Invest. 2008;26:375-84 pubmed publisher
    The extracellular matrix protein 1 (ECM1) is expressed around blood vessels, which suggest a role for ECM1 in angiogenesis...
  5. Chen H, Jia W, Li J, Wang W, Xu G, Ma J, et al. Extracellular matrix protein 1, a novel prognostic factor, is associated with metastatic potential of hepatocellular carcinoma. Med Oncol. 2011;28 Suppl 1:S318-25 pubmed publisher
    b>Extracellular matrix protein 1 (ECM1) is a glycoprotein involved in a number of biologic processes...
  6. Smits P, Ni J, Feng P, Wauters J, Van Hul W, Boutaibi M, et al. The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization. Genomics. 1997;45:487-95 pubmed
    The Ecm1 gene encodes an 85-kDa protein of unknown function that was originally identified as a secretory protein of the murine osteogenic stromal cell line MN7...
  7. Hamada T, McLean W, Ramsay M, Ashton G, Nanda A, Jenkins T, et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet. 2002;11:833-40 pubmed
    ..sequencing of genomic DNA, we identified six different homozygous loss-of-function mutations in the extracellular matrix protein 1 gene (ECM1)...
  8. Han Z, Ni J, Smits P, Underhill C, Xie B, Chen Y, et al. Extracellular matrix protein 1 (ECM1) has angiogenic properties and is expressed by breast tumor cells. FASEB J. 2001;15:988-94 pubmed
    ..The present study found that extracellular matrix protein 1 (ECM1), a newly described secretory glycoprotein, promotes angiogenesis...
  9. Nasir M, Latif A, Ajmal M, Qamar R, Naeem M, Hameed A. Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family. Diagn Pathol. 2011;6:69 pubmed publisher
    ..and hoarseness appearing in early childhood that is caused by homozygous or compound heterozygous mutations in the ECM1 gene located on chromosome 1q21...

More Information

Publications96

  1. Chan I, Liu L, Hamada T, Sethuraman G, McGrath J. The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Exp Dermatol. 2007;16:881-90 pubmed
    ..1q21 and pathogenic mutations were identified in the ECM1 gene, which encodes for the glycoprotein extracellular matrix protein 1 (ECM1). ECM1 has since been shown to have several important biological functions...
  2. Lal G, Hashimi S, Smith B, Lynch C, Zhang L, Robinson R, et al. Extracellular matrix 1 (ECM1) expression is a novel prognostic marker for poor long-term survival in breast cancer: a Hospital-based Cohort Study in Iowa. Ann Surg Oncol. 2009;16:2280-7 pubmed publisher
    Previous work in a small, unselected series showed that up to 83% of breast carcinomas overexpress ECM1 by immunohistochemistry (IHC) and that tumors with lymph node metastases are more likely to be ECM1-positive...
  3. Smits P, Poumay Y, Karperien M, Tylzanowski P, Wauters J, Huylebroeck D, et al. Differentiation-dependent alternative splicing and expression of the extracellular matrix protein 1 gene in human keratinocytes. J Invest Dermatol. 2000;114:718-24 pubmed
    The human extracellular matrix protein 1 (Ecm1) gene is located at chromosome band 1q21 close to the epidermal differentiation complex and is transcribed in two discrete mRNAs: a full length Ecm1a and a shorter, alternatively spliced, ..
  4. Horev L, Wollina D, Potikha T, Hafner A, Ingber A, Liu L, et al. Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation. Acta Derm Venereol. 2009;89:528-9 pubmed publisher
  5. Han B, Zhang X, Liu Q, Chen X, Zhu X. Homozygous missense mutation in the ECM1 gene in Chinese siblings with lipoid proteinosis. Acta Derm Venereol. 2007;87:387-9 pubmed
    Lipoid proteinosis is caused by loss-of-function mutations in the glycoprotein extracellular matrix protein 1 (ECM1). We report here mutation analysis of the ECM1 gene in a Chinese family with lipoid proteinosis...
  6. Nasir M, Latif A, Ajmal M, Ismail M, Hameed A. A novel homozygous 62-bp insertion in ECM1 causes lipoid proteinosis in a multigeneration Pakistani family. Br J Dermatol. 2009;161:688-90 pubmed publisher
  7. Hamada T, Wessagowit V, South A, Ashton G, Chan I, Oyama N, et al. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol. 2003;120:345-50 pubmed
    The autosomal recessive disorder lipoid proteinosis results from mutations in extracellular matrix protein 1 (ECM1), a glycoprotein expressed in several tissues (including skin) and composed of two alternatively spliced isoforms, ECM1a ..
  8. Deckers M, Smits P, Karperien M, Ni J, Tylzanowski P, Feng P, et al. Recombinant human extracellular matrix protein 1 inhibits alkaline phosphatase activity and mineralization of mouse embryonic metatarsals in vitro. Bone. 2001;28:14-20 pubmed
    Two mRNAs are transcribed from the extracellular matrix protein 1 gene (Ecm1): Ecm1a and an alternatively spliced Ecm1b...
  9. Johnson M, Wilkin D, Vos H, Ortiz de Luna R, Dehejia A, Polymeropoulos M, et al. Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21. Matrix Biol. 1997;16:289-92 pubmed
    Ecm1, the mouse gene encoding extracellular matrix protein 1, is highly expressed in bone and cartilage as well as in osteogenic, preosteoblastic and chondroblastic cell lines...
  10. Zhang K, Liu J, Li C, Peng X, Li H, Li Z. Identification and validation of potential target genes in papillary thyroid cancer. Eur J Pharmacol. 2019;843:217-225 pubmed publisher
    ..PPI network and module analysis identified seven-hub genes, including FN1, SERPINA1, ECM1, MMRN1, PROS1, CFD, TIMP1...
  11. Alur V, Raju V, Vastrad B, Vastrad C. Mining Featured Biomarkers Linked with Epithelial Ovarian CancerBased on Bioinformatics. Diagnostics (Basel). 2019;9: pubmed publisher
    ..genes such as E2F4, SRPK2, A2M, CDH1, MAP1LC3A, UCHL1, HLA-C (major histocompatibility complex, class I, C) , VAT1, ECM1 and SNRPN (small nuclear ribonucleoprotein polypeptide N) were associated in pathogenesis of EOC...
  12. Hassani F, Oryan S, Eftekhari Yazdi P, Bazrgar M, Moini A, Nasiri N, et al. Downregulation of Extracellular Matrix and Cell Adhesion Molecules in Cumulus Cells of Infertile Polycystic Ovary Syndrome Women with and without Insulin Resistance. Cell J. 2019;21:35-42 pubmed publisher
    ..Overall, comparison of PCOS cases with controls showed downregulation of extracellular matrix protein 1 (ECM1); catenin (cadherin-associated protein), alpha 1 (CTNNA1); integrin, alpha 5 (ITGA5); laminin, ..
  13. Cecati M, Corradetti A, Sartini D, Pozzi V, Giannubilo S, Saccucci F, et al. Expression of extracellular matrix and adhesion proteins in pelvic organ prolapse. Cell Mol Biol (Noisy-le-grand). 2018;64:142-148 pubmed
    ..Real-Time PCR results showed a significant upregulation for extracellular matrix protein 1 (ECM1) and integrin beta 3 (ITGB3) and a significant downregulation for FBLN5 in POP group...
  14. Heinbockel L, Marwitz S, Schromm A, Watz H, Kugler C, Ammerpohl O, et al. Identification of novel target genes in human lung tissue involved in chronic obstructive pulmonary disease. Int J Chron Obstruct Pulmon Dis. 2018;13:2255-2259 pubmed publisher
    ..Six candidate genes were selected for further investigations: Aquaporin 3 (AQP3), extracellular matrix protein 1 (ECM1), four and a half LIM domain 1 (FHL1), milk fat globule epidermal growth factor 8 (..
  15. Muttach F, Muthmann N, Reichert D, Anhäuser L, Rentmeister A. A benzylic linker promotes methyltransferase catalyzed norbornene transfer for rapid bioorthogonal tetrazine ligation. Chem Sci. 2017;8:7947-7953 pubmed publisher
    ..We show that benzylic moieties are transferred by Ecm1 with higher catalytic efficiency than the natural AdoMet...
  16. Poma A, Giannini R, Piaggi P, Ugolini C, Materazzi G, Miccoli P, et al. A six-gene panel to label follicular adenoma, low- and high-risk follicular thyroid carcinoma. Endocr Connect. 2018;7:124-132 pubmed publisher
    ..Twenty-five genes were differentially expressed (FDR <0.05) between FAs and WI-FTCs. Six of these (ECM1, RXRG, SDPR, SLC26A4, TIFF3, TIMP1) were also differently expressed among MI-..
  17. Riby J, Mobley J, Zhang J, Bracci P, Skibola C. Serum protein profiling in diffuse large B-cell lymphoma. Proteomics Clin Appl. 2016;10:1113-1121 pubmed publisher
    ..cluster of differentiation 14 (CD14), heparin sulfate proteoglycan core protein (HSPG2), extracellular matrix 1 (ECM1), and alpha-1-antichymotrypsin (ACT). These proteins were statistically significantly elevated by 68.8, 37.0, 61...
  18. Lee K, Nam K, Oh S, Lim J, Kim Y, Lee J, et al. Extracellular matrix protein 1 regulates cell proliferation and trastuzumab resistance through activation of epidermal growth factor signaling. Breast Cancer Res. 2014;16:479 pubmed publisher
    b>Extracellular matrix protein 1 (ECM1) is a secreted glycoprotein with putative functions in cell proliferation, angiogenesis and differentiation...
  19. Schulten H, Al Mansouri Z, Baghallab I, Bagatian N, Subhi O, Karim S, et al. Comparison of microarray expression profiles between follicular variant of papillary thyroid carcinomas and follicular adenomas of the thyroid. BMC Genomics. 2015;16 Suppl 1:S7 pubmed publisher
    ..upregulated genes in FVPTCs were GABA B receptor, 2 (GABBR2), neuronal cell adhesion molecule (NRCAM), extracellular matrix protein 1 (ECM1), heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), and retinoid X receptor, gamma (RXRG)...
  20. He L, Gu W, Wang M, Chang X, Sun X, Zhang Y, et al. Extracellular matrix protein 1 promotes follicular helper T cell differentiation and antibody production. Proc Natl Acad Sci U S A. 2018;115:8621-8626 pubmed publisher
    ..Here, we demonstrate that a secreted protein extracellular matrix protein 1 (ECM1) is critical for TFH differentiation and antibody response...
  21. Oguz Akarsu E, Dinçsoy Bir F, Baykal C, Taşdemir V, Kara B, Bebek N, et al. The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations. Clin EEG Neurosci. 2018;49:192-196 pubmed publisher
    ..We included 7 consecutive patients with LP with typical intracranial calcifications out of 16 patients with ECM1 mutations and investigated the semiologic features, ictal and interictal EEG findings, and long-term prognosis of ..
  22. Li Y, Zhang W, Zhao J, Li S, Shan L, Zhu J, et al. Establishing a dual knock-out cell line by lentivirus based combined CRISPR/Cas9 and Loxp/Cre system. Cytotechnology. 2018;70:1595-1605 pubmed publisher
    ..To prove the principle, two candidate genes, extracellular matrix protein 1 (ECM1) and progranulin (PGRN), both highly expressed in MDA-MB-231 cells, were selected for testing ..
  23. Shi J, Zhou L, Zhernakova A, Qian J, Zhu F, Sun G, et al. Haplotype-based analysis of ulcerative colitis risk loci identifies both IL2 and IL21 as susceptibility genes in Han Chinese. Inflamm Bowel Dis. 2011;17:2472-9 pubmed publisher
    ..polymorphisms (SNPs), which cover the major haplotypes of the chromosome regions containing IL10, IL2/IL21, MYO9B, ECM1, MST1, and IL23R in Han Chinese...
  24. Plevy S, Silverberg M, Lockton S, Stockfisch T, Croner L, Stachelski J, et al. Combined serological, genetic, and inflammatory markers differentiate non-IBD, Crohn's disease, and ulcerative colitis patients. Inflamm Bowel Dis. 2013;19:1139-48 pubmed publisher
    ..markers (ASCA-IgA, ASCA-IgG, ANCA, pANCA, OmpC, CBir1, A4-Fla2, and FlaX), 4 genetic markers (ATG16L1, NKX2-3, ECM1, and STAT3), and 5 inflammatory markers (CRP, SAA, ICAM-1, VCAM-1, and VEGF)...
  25. Viliavin G, Panchenko K, Nishanov F, Budaev K. [Acid-producing function of the stomach in pyloric ulcers]. Sov Med. 1977;:43-5 pubmed
  26. Luo X, Li Q, Tan Q, Yang H, Xiang J, Miao J, et al. Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene. J Dermatol. 2016;43:804-7 pubmed publisher
    ..is a rare recessive genetic disorder caused by loss-of-function mutations to chromosome 1 at 1q21, the extracellular matrix protein 1 (ECM1) gene...
  27. Balestri M, Cappelletti S, Valeriani M, Vigevano F. Structural focal temporal lobe seizures in a child with lipoproteinosis. Pediatr Neurol. 2015;52:104-6 pubmed publisher
    Lipoproteinosis is a rare autosomal recessive disorder caused by a mutation in a gene (ECM1) on chromosome 1q21. Alterations of membrane and vessels in the dermal-epidermal junction represent the pathologic background of the disease...
  28. Wu Q, Chen D, Luo Q, Yang Q, Zhao C, Zhang D, et al. Extracellular matrix protein 1 recruits moesin to facilitate invadopodia formation and breast cancer metastasis. Cancer Lett. 2018;437:44-55 pubmed publisher
    ..b>Extracellular matrix protein 1 (ECM1) has long been regarded as a secretory protein, but the mechanism of its precise functions in ..
  29. Al Shareef Z, Kardooni H, Murillo Garzón V, Domenici G, Stylianakis E, Steel J, et al. Protective effect of stromal Dickkopf-3 in prostate cancer: opposing roles for TGFBI and ECM-1. Oncogene. 2018;37:5305-5324 pubmed publisher
    ..Increased ECM1 and DKK3 mRNA expression in prostate tumors was associated with increased relapse-free survival...
  30. Santasusagna S, Moreno I, Navarro A, Castellano J, Martinez F, Hernandez R, et al. Proteomic Analysis of Liquid Biopsy from Tumor-Draining Vein Indicates that High Expression of Exosomal ECM1 Is Associated with Relapse in Stage I-III Colon Cancer. Transl Oncol. 2018;11:715-721 pubmed publisher
    ..Findings were confirmed by Western blot. Exosomal ECM1 protein was more highly expressed in patients than in controls and was 13...
  31. Challa T, Straub L, Balaz M, Kiehlmann E, Donze O, Rudofsky G, et al. Regulation of De Novo Adipocyte Differentiation Through Cross Talk Between Adipocytes and Preadipocytes. Diabetes. 2015;64:4075-87 pubmed publisher
    ..Among the secreted factors, Slc27a1, Vim, Cp, and Ecm1 promoted adipocyte differentiation, whereas Got2, Cpq, interleukin-1 receptor-like 1/ST2-IL-33, Sparc, and Lgals3bp ..
  32. Kong L, Zhao Y, Tian Q, Feng J, Kobayashi T, Merregaert J, et al. Extracellular matrix protein 1, a direct targeting molecule of parathyroid hormone-related peptide, negatively regulates chondrogenesis and endochondral ossification via associating with progranulin growth factor. FASEB J. 2016;30:2741-54 pubmed publisher
    ..Here, we report that extracellular matrix protein 1 (ECM1) is a previously unrecognized regulator of chondrogenesis...
  33. Plubell D, Wilmarth P, Zhao Y, Fenton A, Minnier J, Reddy A, et al. Extended Multiplexing of Tandem Mass Tags (TMT) Labeling Reveals Age and High Fat Diet Specific Proteome Changes in Mouse Epididymal Adipose Tissue. Mol Cell Proteomics. 2017;16:873-890 pubmed publisher
    ..g. C3, C4b, C8, C9, CFB, CFH, FGA), extracellular remodeling (e.g. EFEMP1, FBN1, FBN2, LTBP4, FERMT2, ECM1, EMILIN2, ITIH3) and apoptosis (e.g. YAP1, HIP1, NDRG1, PRKCD, MUL1) pathways...
  34. Lu Y, Ye Y, Yang Q, Shi S. Single-cell RNA-sequence analysis of mouse glomerular mesangial cells uncovers mesangial cell essential genes. Kidney Int. 2017;92:504-513 pubmed publisher
    ..Importantly, 11 (Angpt2, Anxa5, Axl, Ecm1, Eng, Fn1, Mfge8, Msn, Nrp1, Serpine2, and Sparc) were upregulated, while 2 (Apoe and Fgf1) were downregulated in ..
  35. Izadi F, Mahjoubi F, Farhadi M, Kalayinia S, Bidmeshkipour A, Tavakoli M, et al. Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis. Indian J Med Res. 2016;143:303-7 pubmed publisher
    ..Mutations in the ECM1 gene on 1q21.2 are responsible for this disease...
  36. Tucker A, Mithoo J, Cleary P, Woodhead M, MacPherson P, Wingfield T, et al. Quantifying the need for enhanced case management for TB patients as part of TB cohort audit in the North West of England: a descriptive study. BMC Public Health. 2017;17:881 pubmed publisher
    ..Of 1714 notified cases 99.8% were assigned an ECM level: 31% ECM1, 19% ECM2 and 14% ECM3. The most common factors indicating need for ECM were language barriers (20...
  37. Ye H, Yu X, Xia J, Tang X, Tang L, Chen F. MiR-486-3p targeting ECM1 represses cell proliferation and metastasis in cervical cancer. Biomed Pharmacother. 2016;80:109-114 pubmed publisher
    ..b>ECM1 was predicted and velified as a target gene of miR-486-3p...
  38. Bai H, Li H, Li W, Gui T, Yang J, Cao D, et al. The PI3K/AKT/mTOR pathway is a potential predictor of distinct invasive and migratory capacities in human ovarian cancer cell lines. Oncotarget. 2015;6:25520-32 pubmed publisher
    ..PI3K/AKT/mTOR pathway components, PIK3CA, PIK3CD, AKT3, ECM1, GPCR, mTOR and PRKCB were increased but that the Nur77 and PTEN were decreased in A-H/S-H cells, identified by RNA-..
  39. Lee M, Wang H, Han Y, Zhou Y, Zhao J, Duo L, et al. Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA. Acta Derm Venereol. 2015;95:608-10 pubmed publisher
  40. Graubner F, Boos A, Aslan S, Kücükaslan I, Kowalewski M. Uterine and placental distribution of selected extracellular matrix (ECM) components in the dog. Reproduction. 2018;155:403-421 pubmed publisher
    ..We found that canine free-floating embryos affect gene expression of FN1, ECM1 and TIMP4 This seems to be associated with modulation of trophoblast invasion, and proliferative and ..
  41. Korbakis D, Schiza C, Brinc D, Soosaipillai A, Karakosta T, Légaré C, et al. Preclinical evaluation of a TEX101 protein ELISA test for the differential diagnosis of male infertility. BMC Med. 2017;15:60 pubmed publisher
    ..The combination of a concentration of TEX101?>?0.9 ng/mL and epididymis-specific protein ECM1?>?2...
  42. Holstein J, Anhäuser L, Rentmeister A. Modifying the 5'-Cap for Click Reactions of Eukaryotic mRNA and To Tune Translation Efficiency in Living Cells. Angew Chem Int Ed Engl. 2016;55:10899-903 pubmed publisher
    ..for the efficient production of a range of N7-modified caps based on the highly promiscuous methyltransferase Ecm1. We show that these, as well as N(2) -modified 5'-caps, can be used to tune translation of the respective mRNAs ..
  43. Izkhakov E, Somjen D, Sharon O, Knoll E, Aizic A, Fliss D, et al. Vitamin D receptor expression is linked to potential markers of human thyroid papillary carcinoma. J Steroid Biochem Mol Biol. 2016;159:26-30 pubmed publisher
    ..The mRNA expression levels of two of them, the ECM protein-1 (ECM1) and the type II transmembrane serine protease-4 (TMPRSS4), were shown to be an independent predictor of an ..
  44. Afifi H, Amr K, Tosson A, Hassan T, Mehrez M, El Kamah G. Lipoid proteinosis: A clinical and molecular study in Egyptian patients. Gene. 2017;628:308-314 pubmed publisher
    Lipoid proteinosis (LP) is an autosomal recessive disorder caused by the loss of function of ECM1 gene. Clinical features include varying degrees of skin thickening, hoarseness of voice and less frequently neuropsychiatric abnormalities...
  45. Gao F, Xia Y, Wang J, Lin Z, Ou Y, Liu X, et al. Integrated analyses of DNA methylation and hydroxymethylation reveal tumor suppressive roles of ECM1, ATF5, and EOMES in human hepatocellular carcinoma. Genome Biol. 2014;15:533 pubmed publisher
    ..Six genes were selected as tumor suppressor gene candidates, among which, ECM1, ATF5 and EOMES are confirmed via siRNA experiments to have potential anti-cancer functions.
  46. Merregaert J, Van Langen J, Hansen U, Ponsaerts P, El Ghalbzouri A, Steenackers E, et al. Phospholipid scramblase 1 is secreted by a lipid raft-dependent pathway and interacts with the extracellular matrix protein 1 in the dermal epidermal junction zone of human skin. J Biol Chem. 2010;285:37823-37 pubmed publisher
    We examined the interaction of ECM1 (extracellular matrix protein 1) using yeast two-hybrid screening and identified the type II transmembrane protein, PLSCR1 (phospholipid scramblase 1), as a binding partner...
  47. Li Y, Li Y, Zhao J, Wang D, Mao Q, Xia H. Production and characterization of domain-specific monoclonal antibodies against human ECM1. Protein Expr Purif. 2016;121:103-11 pubmed publisher
    ..b>ECM1 has been implicated in multiple biological functions, which are potentially mediated by the interaction of ..
  48. Youssefian L, Vahidnezhad H, Daneshpazhooh M, Abdollahzadeh S, Talari H, Khoshnevisan A, et al. Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1. Exp Dermatol. 2015;24:220-2 pubmed publisher
    Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the ECM1 gene, and previous studies have noted phenotypic variability...
  49. Sercu S, Zhang M, Oyama N, Hansen U, Ghalbzouri A, Jun G, et al. Interaction of extracellular matrix protein 1 with extracellular matrix components: ECM1 is a basement membrane protein of the skin. J Invest Dermatol. 2008;128:1397-408 pubmed publisher
    The extracellular matrix protein 1 (ECM1) is a secreted glycoprotein, which plays an important role in the structural and functional biology of the skin as demonstrated by the identification of loss-of-function mutations in ECM1 as cause ..
  50. Lee K, Nam K, Oh S, Lim J, Lee T, Shin I. ECM1 promotes the Warburg effect through EGF-mediated activation of PKM2. Cell Signal. 2015;27:228-35 pubmed publisher
    ..b>Extracellular matrix protein 1 (ECM1) is a secreted glycoprotein that is overexpressed in various types of carcinoma...
  51. Li Z, Zhang Y, Liu Z, Wu X, Zheng Y, Tao Z, et al. ECM1 controls T(H)2 cell egress from lymph nodes through re-expression of S1P(1). Nat Immunol. 2011;12:178-85 pubmed publisher
    ..Here we demonstrate that extracellular matrix protein-1 (ECM1) is highly and selectively expressed in T(H)2 cells...
  52. Mongiat M, Fu J, Oldershaw R, Greenhalgh R, Gown A, Iozzo R. Perlecan protein core interacts with extracellular matrix protein 1 (ECM1), a glycoprotein involved in bone formation and angiogenesis. J Biol Chem. 2003;278:17491-9 pubmed
    ..Among the strongest interacting clones, we isolated a approximately 1.6-kb cDNA insert that encoded extracellular matrix protein 1 (ECM1), a secreted glycoprotein involved in bone formation and angiogenesis...
  53. Lal G, Contreras P, Kulak M, Woodfield G, BAIR T, Domann F, et al. Human Melanoma cells over-express extracellular matrix 1 (ECM1) which is regulated by TFAP2C. PLoS ONE. 2013;8:e73953 pubmed publisher
    Extracellular matrix 1 (ECM1) is over-expressed in multiple epithelial malignancies. However, knowledge regarding the expression of ECM1 in melanomas and the mechanisms of ECM1 regulation is limited...
  54. O Blenes C, Pasternak S, Issekutz A, Gillis J, Chowdhury D, Finlayson L. Epidermodysplasia verruciformis in lipoid proteinosis: case report and discussion of pathophysiology. Pediatr Dermatol. 2015;32:118-21 pubmed publisher
    Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis caused by mutations in extracellular matrix protein 1 (ECM1) that involves deposition of basement membrane-like material in the skin and other organs...
  55. Drabovich A, Dimitromanolakis A, Saraon P, Soosaipillai A, Batruch I, Mullen B, et al. Differential diagnosis of azoospermia with proteomic biomarkers ECM1 and TEX101 quantified in seminal plasma. Sci Transl Med. 2013;5:212ra160 pubmed publisher
    ..samples from men with normal spermatogenesis and azoospermia, and identified two proteins, epididymis-expressed ECM1 and testis-expressed TEX101, which differentiated OA and NOA with high specificities and sensitivities...
  56. Jia C, Zhang F, Zhu Y, Qi X, Wang Y. Public data mining plus domestic experimental study defined involvement of the old-yet-uncharacterized gene matrix-remodeling associated 7 (MXRA7) in physiopathology of the eye. Gene. 2017;632:43-49 pubmed publisher
    ..induced in Balb/c mice, and mRNA levels of Mxra7 as well as several matrix-remodeling related genes (Mmp3, Mmp13, Ecm1, Timp1) were monitored with RT-PCR...
  57. Lee K, Nam K, Oh S, Lim J, Kim R, Shim D, et al. ECM1 regulates tumor metastasis and CSC-like property through stabilization of β-catenin. Oncogene. 2015;34:6055-65 pubmed publisher
    b>Extracellular Matrix Protein 1 (ECM1) is a marker for tumorigenesis and is correlated with invasiveness and poor prognosis in various types of cancer. However, the functional role of ECM1 in cancer metastasis is unclear...
  58. Fujimoto N, Terlizzi J, Brittingham R, Fertala A, McGrath J, Uitto J. Extracellular matrix protein 1 interacts with the domain III of fibulin-1C and 1D variants through its central tandem repeat 2. Biochem Biophys Res Commun. 2005;333:1327-33 pubmed
    b>Extracellular matrix protein 1 (ECM1), a widely expressed glycoprotein, has been shown to harbor mutations in lipoid proteinosis (LP), an autosomal recessive disorder characterized by profound alterations in the extracellular matrix of ..
  59. Su P, Chen S, Zheng Y, Zhou H, Yan C, Yu F, et al. Novel Function of Extracellular Matrix Protein 1 in Suppressing Th17 Cell Development in Experimental Autoimmune Encephalomyelitis. J Immunol. 2016;197:1054-64 pubmed publisher
    ..In this article, we report the effect of a Th2 cell product, extracellular matrix protein 1 (ECM1), on the differentiation of Th17 cells and the development of EAE...
  60. Won K, Im J, Kim B, Ban H, Jung Y, Jung K, et al. Stability of the cancer target DDIAS is regulated by the CHIP/HSP70 pathway in lung cancer cells. Cell Death Dis. 2017;8:e2554 pubmed publisher
  61. Bianchini G, Qi Y, Alvarez R, Iwamoto T, Coutant C, Ibrahim N, et al. Molecular anatomy of breast cancer stroma and its prognostic value in estrogen receptor-positive and -negative cancers. J Clin Oncol. 2010;28:4316-23 pubmed publisher
    ..Other stromal metagenes had inconsistent prognostic value. Among ER-negative and ER-positive highly proliferative cancers, a subset of tumors with high expression of a B-cell/plasma cell metagene carries a favorable prognosis. ..
  62. George B, Chen S, Chaudhary V, Gonder J, Chakrabarti S. Extracellular matrix proteins in epiretinal membranes and in diabetic retinopathy. Curr Eye Res. 2009;34:134-44 pubmed publisher
    ..Elevated serum EDBFN in the PDR may potentially be further explored as a possible molecular marker for the early detection of diabetic end organ damages. ..
  63. Gu M, Guan J, Zhao L, Ni K, Li X, Han Z. Correlation of ECM1 expression level with the pathogenesis and metastasis of laryngeal carcinoma. Int J Clin Exp Pathol. 2013;6:1132-7 pubmed
    To investigate the expression of extracellular matrix protein 1 (ECM1) in benign laryngeal lesions, precancerous lesions and malignant laryngeal lesions and analyze the clinical significance of ECM1 changes in the pathogenesis and ..
  64. Dubinsky M, Mei L, Friedman M, Dhere T, Haritunians T, Hakonarson H, et al. Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease. Inflamm Bowel Dis. 2010;16:1357-66 pubmed publisher
    ..Defining predictors of response to anti-TNFalpha may allow the identification of patients who will not benefit from this class of therapy. ..
  65. Sercu S, Lambeir A, Steenackers E, El Ghalbzouri A, Geentjens K, Sasaki T, et al. ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain. Matrix Biol. 2009;28:160-9 pubmed publisher
    The extracellular matrix protein 1 (ECM1) is an 85 kDa secreted glycoprotein, comprising four variants and playing a pivotal role in endochondral bone formation, angiogenesis, and tumour biology...
  66. Almogren A, Bonner A, Perkins S, Kerr M. Functional and structural characterisation of human colostrum free secretory component. Mol Immunol. 2009;46:1534-41 pubmed publisher
    ..The FSC modelling accounts for the lack of effect of the C-terminal linker on the known functions of FSC. ..
  67. Repnik K, Potočnik U. eQTL analysis links inflammatory bowel disease associated 1q21 locus to ECM1 gene. J Appl Genet. 2016;57:363-72 pubmed publisher
    ..eQTL analysis of selected chromosomal regions, we confirmed a link between SNP and gene for four (SLC22A5 on 5q, ECM1 on 1q, ORMDL3 on 17q, and PUS10 on 2p locus) out of five selected regions...
  68. McGrath J. Lipoid proteinosis. Handb Clin Neurol. 2015;132:317-22 pubmed publisher
    Lipoid proteinosis is a rare autosomal recessive disorder caused by mutations in ECM1, encoding extracellular matrix protein 1, a glycoprotein expressed in many organs and which has important protein-protein interactions in tissue ..
  69. Ranjan P, Mishra D, Plesec T, Pratap V, Singh A. Familial Moniliform Blepharosis: Clinical, Histopathological and Genetic Correlation. Ophthalmic Genet. 2015;36:160-4 pubmed publisher
    ..Loss of function mutations in the extracellular matrix protein 1 (ECM1) gene have been identified as the causative factor, and their identification confirms the ..
  70. Festen E, Stokkers P, van Diemen C, van Bodegraven A, Boezen H, Crusius B, et al. Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk. Am J Gastroenterol. 2010;105:395-402 pubmed publisher
    ..We found 12 SNPs tagging ten loci, including HLA-DRA, IL10, IL23R, JAK2, S100Z, ARPC2, and ECM1, to be associated with UC...
  71. Nasir M, Rahman S, Sieber C, Mir A, Latif A, Ahmad N, et al. Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis. Mol Biol Rep. 2014;41:2085-92 pubmed publisher
    ..include beaded eyelid papules, laryngeal infiltration and hoarseness of voice caused by pathogenic mutations in the ECM1 gene located on 1q21.2...
  72. Chen H, Jia W, Li J. ECM1 promotes migration and invasion of hepatocellular carcinoma by inducing epithelial-mesenchymal transition. World J Surg Oncol. 2016;14:195 pubmed publisher
    b>Extracellular matrix protein 1 (ECM1) is a glycoprotein involved in many biologic processes...
  73. Fisher S, Tremelling M, Anderson C, Gwilliam R, Bumpstead S, Prescott N, et al. Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nat Genet. 2008;40:710-2 pubmed publisher
    ..of a nonsynonymous SNP scan for ulcerative colitis and identify a previously unknown susceptibility locus at ECM1. We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-..
  74. Adalı G, Ersoy Tunalı N, Yorulmaz E, Tiryakioğlu N, Mungan S, Ulaşoğlu C, et al. Extracellular matrix protein 1 gene rs3737240 single nucleotide polymorphism is associated with ulcerative colitis in Turkish patients. Turk J Gastroenterol. 2017;28:254-259 pubmed publisher
    ..Genetic, immunologic, and microbial factors play an important role in their pathogenesis. Extracellular matrix protein 1 (ECM1), a gene related to mucosal barrier function, has been shown to be associated with UC...
  75. Meng X, Liu J, Lv F, Liu M, Wan J. Study on the correlation between extracellular matrix protein-1 and the growth, metastasis and angiogenesis of laryngeal carcinoma. Asian Pac J Cancer Prev. 2015;16:2313-6 pubmed
    To investigate the correlation between extracellular matrix protein-1 (ECM1) and the growth, metastasis and angiogenesis of laryngeal carcinoma...
  76. Gan L, Meng J, Xu M, Liu M, Qi Y, Tan C, et al. Extracellular matrix protein 1 promotes cell metastasis and glucose metabolism by inducing integrin β4/FAK/SOX2/HIF-1α signaling pathway in gastric cancer. Oncogene. 2018;37:744-755 pubmed publisher
    b>Extracellular matrix protein 1 (ECM1) is related to strong invasiveness and poor prognosis in major malignancies, but the underlying mechanism remains unknown...
  77. Han Z, Lin G, Huang J, Chi F, Zhang L. [The relationship between ECM1 and the angiogenesis and metastasis of laryngeal carcinoma]. Lin Chuang Er Bi Yan Hou Ke Za Zhi. 2006;20:116-8, 121 pubmed
    To investigate the expressions of extracellular matrix protein-1 (ECM1) in laryngeal carcinoma and their relationships with the growth, metastasis and angiogenesis of tumor...
  78. Gomez Contreras P, Ramiro Díaz J, Sierra A, Stipp C, Domann F, Weigel R, et al. Extracellular matrix 1 (ECM1) regulates the actin cytoskeletal architecture of aggressive breast cancer cells in part via S100A4 and Rho-family GTPases. Clin Exp Metastasis. 2017;34:37-49 pubmed publisher
    b>ECM1 overexpression is an independent predictor of poor prognosis in primary breast carcinomas, however the mechanisms by which ECM1 affects tumor progression have not been completely elucidated...
  79. Gao D, Lian P, Wang R, Zhang L, Wang X, Chen J. Identification of a novel splicing mutation of ECM1 in a rare lipoid proteinosis family. J Dermatol. 2013;40:675-7 pubmed publisher
  80. Fujimoto N, Terlizzi J, Aho S, Brittingham R, Fertala A, Oyama N, et al. Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions. Exp Dermatol. 2006;15:300-7 pubmed
    b>Extracellular matrix protein 1 (ECM1), an approximately 85-kDa glycoprotein with broad tissue distribution, harbors mutations in lipoid proteinosis (LP), a heritable disease characterized by reduplication of basement membranes and ..
  81. Anderson C, Massey D, Barrett J, Prescott N, Tremelling M, Fisher S, et al. Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. Gastroenterology. 2009;136:523-9.e3 pubmed publisher
    ..Furthermore, the recently identified UC locus at ECM1 requires formal testing for association with CD...
  82. Abdel Salam R, El Badry N, Rizk A, El Sedfy A, Kamel N, El Abd E. Expression of ECM1 and MMP-2 in follicular thyroid lesions among Egyptians. Cancer Biomark. 2015;15:441-58 pubmed publisher
    ..The study aims to investigate the potential use of ECM1 gene and MMP-2 protein as preoperative tumor markers in suspicious follicular thyroid lesions...
  83. Grimaux X, Ayoubi R, Rabin M, Martin L, Bonneau D, Bouyx F, et al. [An atypical case of lipoid proteinosis]. Ann Pathol. 2017;37:425-428 pubmed publisher
    ..The detection of a mutation in the ECM1 gene confirmed the diagnosis of lipoid proteinosis of atypical clinical presentation.
  84. Salih M, Abu Amero K, Alrasheed S, Alorainy I, Liu L, McGrath J, et al. Molecular and neurological characterizations of three Saudi families with lipoid proteinosis. BMC Med Genet. 2011;12:31 pubmed publisher
    ..It is caused by homozygous or compound heterozygous mutations in the ECM1 gene...
  85. Zhang R, Liu Y, Xue Y, Wang Y, Wang X, Shi S, et al. Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients. J Transl Med. 2014;12:85 pubmed publisher
    Lipoid proteinosis (LP) is known to be resulted from mutations of the extracellular matrix protein 1 gene (ECM1). However, no effective or sustained therapeutic methods to alleviate LP symptoms have been reported...
  86. Wu Q, Li X, Yang H, Lu C, You J, Zhang Z. Extracellular matrix protein 1 is correlated to carcinogenesis and lymphatic metastasis of human gastric cancer. World J Surg Oncol. 2014;12:132 pubmed publisher
    Tumor-induced lymphangiogenesis is a crucial step in malignant invasion and metastasis. Extracellular matrix protein 1 (ECM1) was recently reported to play a role in lymphangiogenesis...