ECM1 Gene

Name	extracellular matrix protein 1
Description	This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Extracellular matrix protein 1 (ECM1) is a multifunctional secreted glycoprotein that plays critical roles in tissue homeostasis, immune regulation, and disease pathogenesis. Genetic studies have identified ECM1 as a susceptibility locus for ulcerative colitis, although its variation does not extend to Crohn’s disease."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In the reproductive field, ECM1 expressed in the epididymis serves as a promising biomarker capable of distinguishing obstructive from nonobstructive azoospermia, with potential to reduce invasive diagnostic biopsies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Mutations in ECM1 are the molecular basis of lipoid proteinosis, a disorder characterized by abnormal skin basement membrane duplication and dermal hyalinization, thereby underscoring its essential role in maintaining skin structure."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " In the context of cancer, ECM1 has been implicated in enhancing tumor invasion and metastasis. In gastric, breast, and ovarian cancers, overexpression of ECM1 correlates with epithelial–mesenchymal transition, cancer stem cell maintenance, and poor clinical outcome."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "8"}]}, {"type": "t", "text": " Additionally, yeast two-hybrid studies have revealed interactions between ECM1 and key proteases such as MMP9, suggesting that ECM1 may modulate proteolytic activity and extracellular matrix composition, which in turn impacts tissue remodeling."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " Furthermore, increased ECM1 expression is part of a broader activation of the PI3K/AKT/mTOR signaling axis implicated in the invasive properties of ovarian cancer cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": " In inflammatory bowel disease, ECM1 produced by macrophages modulates M1 polarization via the GM-CSF/STAT5 pathway, thereby contributing to inflammatory progression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": " Complementarily, proteomic analyses in ovarian cancer have identified ECM1 among several extracellular matrix proteins differentially expressed between chemoresistant and chemosensitive tissues."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": " In the skin, binding studies indicate that ECM1 interacts with multiple basement membrane components, such as laminin and collagen IV, to enhance the structural integrity of the dermal–epidermal junction."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "13"}]}, {"type": "t", "text": " Finally, in the immune system ECM1 is highly and selectively expressed in T helper 2 cells, where it regulates cell migration by modulating the expression of key transcription factors and receptors involved in lymphocyte trafficking."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "14"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Sheila A Fisher, Mark Tremelling, Carl A Anderson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.145"}], "href": "https://doi.org/10.1038/ng.145"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18438406"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18438406"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Carl A Anderson, Dunecan C O Massey, Jeffrey C Barrett, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gastroenterology (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1053/j.gastro.2008.10.032"}], "href": "https://doi.org/10.1053/j.gastro.2008.10.032"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19068216"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19068216"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Andrei P Drabovich, Apostolos Dimitromanolakis, Punit Saraon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Differential diagnosis of azoospermia with proteomic biomarkers ECM1 and TEX101 quantified in seminal plasma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Transl Med (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/scitranslmed.3006260"}], "href": "https://doi.org/10.1126/scitranslmed.3006260"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24259048"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24259048"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Takahiro Hamada, Vesarat Wessagowit, Andrew P South, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Invest Dermatol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1046/j.1523-1747.2003.12073.x"}], "href": "https://doi.org/10.1046/j.1523-1747.2003.12073.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12603844"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12603844"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Ien Chan, Lu Liu, Takahiro Hamada, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Dermatol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1600-0625.2007.00608.x"}], "href": "https://doi.org/10.1111/j.1600-0625.2007.00608.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17927570"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17927570"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "L Gan, J Meng, M Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Extracellular matrix protein 1 promotes cell metastasis and glucose metabolism by inducing integrin β4/FAK/SOX2/HIF-1α signaling pathway in gastric cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/onc.2017.363"}], "href": "https://doi.org/10.1038/onc.2017.363"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29059156"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29059156"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Luping Wang, Jiyao Yu, Jian Ni, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Extracellular matrix protein 1 (ECM1) is over-expressed in malignant epithelial tumors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Lett (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0304-3835(03)00350-1"}], "href": "https://doi.org/10.1016/s0304-3835(03"}, {"type": "t", "text": "00350-1) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14550953"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14550953"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "K-m Lee, K Nam, S Oh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ECM1 regulates tumor metastasis and CSC-like property through stabilization of β-catenin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/onc.2015.54"}], "href": "https://doi.org/10.1038/onc.2015.54"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25746001"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25746001"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Norihiro Fujimoto, Joseph Terlizzi, Sirpa Aho, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Dermatol (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.0906-6705.2006.00409.x"}], "href": "https://doi.org/10.1111/j.0906-6705.2006.00409.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16512877"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16512877"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Huimin Bai, Haixia Li, Weihua Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The PI3K/AKT/mTOR pathway is a potential predictor of distinct invasive and migratory capacities in human ovarian cancer cell lines."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncotarget (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/oncotarget.4550"}], "href": "https://doi.org/10.18632/oncotarget.4550"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26267321"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26267321"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Yaguang Zhang, Xuezhen Li, Zhongguang Luo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ECM1 is an essential factor for the determination of M1 macrophage polarization in IBD in response to LPS stimulation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1912774117"}], "href": "https://doi.org/10.1073/pnas.1912774117"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31980528"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31980528"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Sheng Pan, Lihua Cheng, James T White, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Quantitative proteomics analysis integrated with microarray data reveals that extracellular matrix proteins, catenins, and p53 binding protein 1 are important for chemotherapy response in ovarian cancers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "OMICS (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1089/omi.2009.0008"}], "href": "https://doi.org/10.1089/omi.2009.0008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19422301"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19422301"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Sandy Sercu, Mei Zhang, Noritaka Oyama, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Interaction of extracellular matrix protein 1 with extracellular matrix components: ECM1 is a basement membrane protein of the skin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Invest Dermatol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.jid.5701231"}], "href": "https://doi.org/10.1038/sj.jid.5701231"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18200062"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18200062"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Zhenhu Li, Yuan Zhang, Zhiduo Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ECM1 controls T(H)2 cell egress from lymph nodes through re-expression of S1P(1)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Immunol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ni.1983"}], "href": "https://doi.org/10.1038/ni.1983"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21217760"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21217760"}]}]}]}
Synonyms	URBWD
Proteins	ECM1_HUMAN
NCBI Gene ID	1893
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ECM1 has 9,208 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 128 datasets.

Click the + buttons to view associations for ECM1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ECM1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ECM1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ECM1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ECM1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ECM1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ECM1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ECM1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ECM1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ECM1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ECM1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of ECM1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ECM1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ECM1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with ECM1 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ECM1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ECM1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ECM1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ECM1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ECM1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with ECM1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with ECM1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing ECM1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ECM1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ECM1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ECM1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ECM1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ECM1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ECM1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ECM1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ECM1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ECM1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ECM1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ECM1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ECM1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ECM1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ECM1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ECM1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ECM1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ECM1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ECM1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at ECM1 gene from the ENCODE Histone Modification Site Profiles dataset.