EMILIN1 Gene

HGNC Family	EMI domain containing
Name	elastin microfibril interfacer 1
Description	This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Elastin microfibril interfacer‐1 (EMILIN1) is an extracellular matrix glycoprotein that plays multiple roles in tissue homeostasis. Studies have shown that proper secretion and incorporation of EMILIN1 into the ECM are required for the correct assembly of elastic fibers and microfibrillar networks, as disruption leads to disorganized, coarse fibrils and cellular apoptosis in skin and connective tissues."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Structural analyses of its globular C1q domain have revealed that EMILIN1 forms a homotrimer and mediates cell adhesion by engaging α4β1 integrins through a critical glutamic acid residue, a mechanism relevant in processes ranging from blood pressure homeostasis to trophoblast invasion."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the vasculature, EMILIN1 functions as a negative regulator of transforming growth factor‐β (TGF‐β) signaling, a pathway that modulates vascular tone and extracellular matrix remodeling. Loss or mutation of EMILIN1 is associated with increased vascular stiffness and elevated blood pressure, as supported by both genetic association and knockout studies."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "5"}]}, {"type": "t", "text": " Similarly, in the aging heart, reduced EMILIN1 levels correlate with alterations in integrin-dependent adhesion and may contribute to myocardial stiffening, further linking its function to cardiovascular integrity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Furthermore, in specialized tissues EMILIN1 fulfills additional roles. In auditory hair cells, the intracellular region of EMILIN1 interacts with CNGA3 and β1 integrin, suggesting a role in linking cyclic nucleotide–mediated signaling with mechanotransduction."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " In the periodontal ligament, EMILIN1 is crucial for the formation and homeostasis of oxytalan fibers composed primarily of microfibrils, indicating its broader role in elastic fiber maturation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, in the context of tumor biology, EMILIN1 serves as an alternative ligand for VLA-4 integrin in chronic lymphocytic leukemia, where engagement of the EMILIN1 gC1q domain promotes cell adhesion and activates pro-survival signaling pathways."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " Additionally, downregulation of EMILIN1 in pulmonary vascular tissue has been observed in models of congenital diaphragmatic hernia, implicating it in pathological vascular remodeling associated with pulmonary hypertension."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Alessandra Capuano, Francesco Bucciotti, Kelly D Farwell, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.22920"}], "href": "https://doi.org/10.1002/humu.22920"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26462740"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26462740"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Giuliana Verdone, Roberto Doliana, Alessandra Corazza, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The solution structure of EMILIN1 globular C1q domain reveals a disordered insertion necessary for interaction with the alpha4beta1 integrin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M801085200"}], "href": "https://doi.org/10.1074/jbc.M801085200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18463100"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18463100"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Masanori Shimodaira, Tomohiro Nakayama, Naoyuki Sato, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association study of the elastin microfibril interfacer 1 (EMILIN1) gene in essential hypertension."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hypertens (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ajh.2010.16"}], "href": "https://doi.org/10.1038/ajh.2010.16"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20186130"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20186130"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Chibo Liu, Bo Xi "}, {"type": "b", "children": [{"type": "t", "text": "Pooled analyses of the associations of polymorphisms in the GRK4 and EMILIN1 genes with hypertension risk."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Med Sci (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7150/ijms.4171"}], "href": "https://doi.org/10.7150/ijms.4171"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22639547"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22639547"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Dong-qing MI, Bu-yun WANG, Hao Sun, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Association of EMILIN1 gene polymorphism with essential hypertension in Mongolian]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3760/cma.j.issn.1003-9406.2011.02.009"}], "href": "https://doi.org/10.3760/cma.j.issn.1003-9406.2011.02.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21462127"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21462127"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Rugmani Padmanabhan Iyer, Ying Ann Chiao, Elizabeth R Flynn, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Matrix metalloproteinase-9-dependent mechanisms of reduced contractility and increased stiffness in the aging heart."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proteomics Clin Appl (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/prca.201500038"}], "href": "https://doi.org/10.1002/prca.201500038"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26415707"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26415707"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Dakshnamurthy Selvakumar, Marian J Drescher, Jayme R Dowdall, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CNGA3 is expressed in inner ear hair cells and binds to an intracellular C-terminus domain of EMILIN1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20111255"}], "href": "https://doi.org/10.1042/BJ20111255"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22248097"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22248097"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Yuka Nakatomi, Eichi Tsuruga, Kazuki Nakashima, et al. "}, {"type": "b", "children": [{"type": "t", "text": "EMILIN-1 regulates the amount of oxytalan fiber formation in periodontal ligaments in vitro."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Connect Tissue Res (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3109/03008207.2010.502982"}], "href": "https://doi.org/10.3109/03008207.2010.502982"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20701466"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20701466"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Erika Tissino, Eliana Pivetta, Alessandra Capuano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Elastin MIcrofibriL INterfacer1 (EMILIN-1) is an alternative prosurvival VLA-4 ligand in chronic lymphocytic leukemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hematol Oncol (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/hon.2947"}], "href": "https://doi.org/10.1002/hon.2947"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34783040"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34783040"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Julia Zimmer, Toshiaki Takahashi, Alejandro D Hofmann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Downregulated Elastin Microfibril Interfacer 1 Expression in the Pulmonary Vasculature of Experimental Congenital Diaphragmatic Hernia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Pediatr Surg (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1055/s-0037-1604026"}], "href": "https://doi.org/10.1055/s-0037-1604026"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28701001"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28701001"}]}]}]}
Synonyms	GP115, EMI, EMILIN
Proteins	EMIL1_HUMAN
NCBI Gene ID	11117
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

EMILIN1 has 5,576 functional associations with biological entities spanning 8 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) extracted from 112 datasets.

Click the + buttons to view associations for EMILIN1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

EMILIN1 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 EMILIN1 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 EMILIN1 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 EMILIN1 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 EMILIN1 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 EMILIN1 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 EMILIN1 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 EMILIN1 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 EMILIN1 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 EMILIN1 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 EMILIN1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of EMILIN1 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 EMILIN1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with EMILIN1 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 EMILIN1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of EMILIN1 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 EMILIN1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with EMILIN1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of EMILIN1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of EMILIN1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing EMILIN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing EMILIN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with EMILIN1 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 EMILIN1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing EMILIN1 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of EMILIN1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with EMILIN1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with EMILIN1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by EMILIN1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving EMILIN1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with EMILIN1 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 EMILIN1 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 EMILIN1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with EMILIN1 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 EMILIN1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of EMILIN1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of EMILIN1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing EMILIN1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with EMILIN1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with EMILIN1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of EMILIN1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.