Property Summary

NCBI Gene PubMed Count 59
PubMed Score 127.65
PubTator Score 124.95

Knowledge Summary


No data available


  Differential Expression (15)

Disease log2 FC p
interstitial lung disease 1.100 1.6e-02
malignant mesothelioma 1.300 2.1e-06
esophageal adenocarcinoma -3.100 1.9e-02
psoriasis -1.700 2.8e-04
atypical teratoid / rhabdoid tumor 1.100 4.4e-03
glioblastoma 1.300 3.7e-03
intraductal papillary-mucinous neoplasm ... 1.800 2.8e-03
pancreatic cancer 1.700 6.9e-05
cystic fibrosis 1.900 3.1e-03
pilocytic astrocytoma 2.000 1.5e-06
lung adenocarcinoma 1.500 1.8e-03
Endometriosis 1.060 4.7e-02
breast carcinoma 1.300 6.9e-11
Breast cancer 2.200 1.5e-06
gastric carcinoma 1.400 1.4e-02

 OMIM Phenotype (1)

Gene RIF (43)

26564090 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 homeostasis
25824756 High extracellular matrix protein-1 expression is associated with the growth, metastasis and angiogenesis of laryngeal carcinoma
25812648 MMP-2 protein and ECM1 gene are useful preoperative markers for defining malignancy in suspicious thyroid nodules
25746001 association between beta-catenin and the MUC1 cytoplasmic tail was increased by ECM1
25529926 This large cohort revealed extensive phenotypic variability in individuals with the same mutation in ECM1.
25518807 Lipoidproteinosis results from a large homozygous deletion of ECM1 gene in a Chinese family.
25517360 Report a global loss of 5hmC identified three new genes (ECM1, ATF5, and EOMES) with potential anti-cancer functions that may promote the understanding of the molecular mechanisms of hepatocellular carcinoma development and progression.
25446258 ECM1 induced the expression of genes that promote the Warburg effect, such as glucose transporter 1 (GLUT1), lactate dehydrogenase A (LDHA), and hypoxia-inducible factor 1 alpha (HIF-1alpha).
24779890 High extracellular matrix protein 1 expression is correlated to carcinogenesis and lymphatic metastasis of gastric cancer
24742657 Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution
24708644 homozygous missense mutation p.C220G of ECM1 was identified by Sanger sequencing, which is a major allele in Chinese patients with LP
24413997 The data supports the conclusion that the c.742G>T mutation nonsense mutation in ECM1 is the pathological cause of lipoid proteinosis.
24259048 Clinical assays for ECM1 and TEX101 have the potential to replace most of the diagnostic testicular biopsies and facilitate the prediction of outcome of sperm retrieval procedures, increasing the reliability and success of assisted reproduction techniques
24079542 Genetic testing of theECM1 gene showed a homozygous nonsense mutation c.1441C > T (p.Arg481X) in exon 10, confirming the diagnosis of lipoid proteinosis.
24023917 role for TFAP2C in melanoma via its regulation of ECM1
23696932 Suggest that ECM1 plays promotive roles in the occurrence, development and metastasis of laryngeal carcinoma.
23682690 splicing mutation in Chinese lipoid proteinosis family
23534907 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.
22489696 Overexpression of ECM1 contributes to migration and invasion in cholangiocarcinoma.
21791056 Case Report: a novel mutation in Pakistani family extends the body of evidence that supports the importance of ECM1 gene for the development of lipoid proteinosis.
21349189 neurologic and neuroradiologic characteristics and ECM1 gene mutations of seven individuals with lipoid proteinosis (LP) from three unrelated consanguineous families
21128013 The expression of ECM1 was found to be an independent factor for predicting overall and disease-free survival of hepatocellular carcinoma.
20870722 PLSCR1 interacts with the tandem repeat region of ECM1a in the dermal epidermal junction zone of human skin.
20805453 The ECM/SULF1 and ECM/COLLAGEN metagenes showed inconsistent association with DMFS in the three prognostic data sets in both breast neoplasm subtypes, and the combined P values were not significant.
20014019 Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19861958 Observational study of gene-disease association. (HuGE Navigator)
19734986 Identify novel mutations in the human ECM-1 gene in lipoid proteinosis and report lack of genotype-phenotype correlation. (Case report)
19521735 Overexpression of ECM1 is associated with invasive breast carcinomas.
19519837 A novel homozygous 62-bp insertion in exon 8 of ECM1 in this Pakistani family is a rare mutation affecting both alleles and it may help in further understanding the multifunctional role of ECM1
19275936 ECM1 is a multifunctional binding core and/or a scaffolding protein interacting with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis.
19230975 Functional and structural characterisation of human colostrum free secretory component.
19219685 ECM proteins such as EDBFN and collagen are upregulated in ERM and PDR, and are regulated by TGF-beta.
19068216 ECM1 variation was not associated with Crohn's disease.
18443958 A survey of ECM1 expression in different tumors indicated that ECM1, although not tumor specific, is significantly elevated in many malignant epithelial tumors that give rise to metastases, emphasizing its relevance in the cancer process. Review.
18438406 Single Nucleotide Polymorphism in ECM1 gene is associated with ulcerative colitis
18200062 ECM1 is a basement membrane protein of the skin
17927570 This article provides an update on the molecular pathology of lipoid proteinosis, including the addition of 15 new mutations in ECM1 to the mutation database [review]
17721643 We report here mutation analysis of the ECM1 gene in a Chinese family with lipoid proteinosis.
16646403 ECM1 played an important role in the growth, metastasis and angiogenesis of laryngeal carcinoma.
16512877 it is reported here that ECM1 interacts with MMP9 and that such interactions diminish the proteolytic activity of MMP9
16274456 Frther emphasizes the role of ECM-1 in lipoid proteinosis and highlights unresolved genotype-phenotype correlation in this disease.
14550953 These results indicate that ECM1 tends to be preferentially expressed by metastatic epithelial tumors.
12603844 Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. Seven new homozygous nonsense or frameshift mutations. Exons 6 and 7 most common sites for ECM1 mutations.

AA Sequence


Text Mined References (62)

PMID Year Title
26564090 2015 Lipoid proteinosis.
25824756 2015 Study on the correlation between extracellular matrix protein-1 and the growth, metastasis and angiogenesis of laryngeal carcinoma.
25812648 2015 Expression of ECM1 and MMP-2 in follicular thyroid lesions among Egyptians.
25746001 2015 ECM1 regulates tumor metastasis and CSC-like property through stabilization of ?-catenin.
25529926 2015 Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.
25518807 2015 Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA.
25517360 2014 Integrated analyses of DNA methylation and hydroxymethylation reveal tumor suppressive roles of ECM1, ATF5, and EOMES in human hepatocellular carcinoma.
25446258 2015 ECM1 promotes the Warburg effect through EGF-mediated activation of PKM2.
24779890 2014 Extracellular matrix protein 1 is correlated to carcinogenesis and lymphatic metastasis of human gastric cancer.
24708644 2014 Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients.
24413997 2014 Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24259048 2013 Differential diagnosis of azoospermia with proteomic biomarkers ECM1 and TEX101 quantified in seminal plasma.
24079542 2015 Familial Moniliform Blepharosis: Clinical, Histopathological and Genetic Correlation.
24023917 2013 Human Melanoma cells over-express extracellular matrix 1 (ECM1) which is regulated by TFAP2C.
23696932 2013 Correlation of ECM1 expression level with the pathogenesis and metastasis of laryngeal carcinoma.
23682690 2013 Identification of a novel splicing mutation of ECM1 in a rare lipoid proteinosis family.
23534907 Epidermodysplasia verruciformis in lipoid proteinosis: case report and discussion of pathophysiology.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22489696 2012 Overexpression of ECM1 contributes to migration and invasion in cholangiocarcinoma cell.
21791056 2011 Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family.
21349189 2011 Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.
21128013 2011 Extracellular matrix protein 1, a novel prognostic factor, is associated with metastatic potential of hepatocellular carcinoma.
20870722 2010 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.
20805453 2010 Molecular anatomy of breast cancer stroma and its prognostic value in estrogen receptor-positive and -negative cancers.
20014019 2010 Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease.
19861958 2010 Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk.
19734986 2009 Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation.
19521735 2009 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.
19519837 2009 A novel homozygous 62-bp insertion in ECM1 causes lipoid proteinosis in a multigeneration Pakistani family.
19275936 2009 ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain.
19230975 2009 Functional and structural characterisation of human colostrum free secretory component.
19219685 2009 Extracellular matrix proteins in epiretinal membranes and in diabetic retinopathy.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
19139490 2009 A strategy for precise and large scale identification of core fucosylated glycoproteins.
19068216 2009 Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.
18443958 2008 The extracellular matrix protein 1: its molecular interaction and implication in tumor progression.
18438406 2008 Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
18200062 2008 Interaction of extracellular matrix protein 1 with extracellular matrix components: ECM1 is a basement membrane protein of the skin.
17927570 2007 The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.
17721643 2007 Homozygous missense mutation in the ECM1 gene in Chinese siblings with lipoid proteinosis.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16646403 2006 [The relationship between ECM1 and the angiogenesis and metastasis of laryngeal carcinoma].
16512877 2006 Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
16274456 2005 A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14550953 2003 Extracellular matrix protein 1 (ECM1) is over-expressed in malignant epithelial tumors.
12761501 2003 Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways.
12604605 2003 Perlecan protein core interacts with extracellular matrix protein 1 (ECM1), a glycoprotein involved in bone formation and angiogenesis.
12603844 2003 Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11929856 2002 Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
11292659 2001 Extracellular matrix protein 1 (ECM1) has angiogenic properties and is expressed by breast tumor cells.
11165938 2001 Recombinant human extracellular matrix protein 1 inhibits alkaline phosphatase activity and mineralization of mouse embryonic metatarsals in vitro.
10733679 2000 Differentiation-dependent alternative splicing and expression of the extracellular matrix protein 1 gene in human keratinocytes.
9501329 1997 Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21.
9367673 1997 The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization.
601588 1977 [Acid-producing function of the stomach in pyloric ulcers].