EMILIN1 (elastin microfibril interfacer 1)

Gene

• Entrez ID: 11117
• Gene name: Elastin microfibril interfacer 1
• Gene symbol: EMILIN1
• Synonyms (NCBI Gene): ATBFS, EMI, EMILIN, HMN10, HMND10, gp115
• Chromosome: 2
• Chromosome location: 2p23.3
• Summary: 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 wit

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT962003	hsa-miR-1915	CLIP-seq
MIRT962004	hsa-miR-3960	CLIP-seq
MIRT962005	hsa-miR-4466	CLIP-seq
MIRT962006	hsa-miR-4685-5p	CLIP-seq
MIRT962007	hsa-miR-675	CLIP-seq
MIRT1985055	hsa-miR-1236	CLIP-seq
MIRT1985056	hsa-miR-1277	CLIP-seq
MIRT962003	hsa-miR-1915	CLIP-seq
MIRT1985057	hsa-miR-3157-5p	CLIP-seq
MIRT1985055	hsa-miR-1236	CLIP-seq
MIRT1985056	hsa-miR-1277	CLIP-seq
MIRT1985057	hsa-miR-3157-5p	CLIP-seq
MIRT2219869	hsa-miR-4632	CLIP-seq
MIRT2219870	hsa-miR-4707-3p	CLIP-seq
MIRT2219871	hsa-miR-626	CLIP-seq
MIRT2219872	hsa-miR-665	CLIP-seq
MIRT1985055	hsa-miR-1236	CLIP-seq
MIRT1985056	hsa-miR-1277	CLIP-seq
MIRT1985057	hsa-miR-3157-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003180	Process	Aortic valve morphogenesis	IEA
GO:0003180	Process	Aortic valve morphogenesis	ISS
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231
GO:0005515	Function	Protein binding	IPI	11278945, 16189514, 19447967, 21516116, 25416956, 26627825, 26871637, 29892012, 31515488, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	IMP	26462740
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	10358019
GO:0007160	Process	Cell-matrix adhesion	IMP	18463100
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	ISO
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0010811	Process	Positive regulation of cell-substrate adhesion	IEA
GO:0016477	Process	Cell migration	IMP	18463100
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0016525	Process	Negative regulation of angiogenesis	ISS
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	IBA
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	IEA
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	RCA	20551380, 23979707, 25037231, 27068509, 28327460, 28675934
GO:0030194	Process	Positive regulation of blood coagulation	ISS
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030336	Process	Negative regulation of cell migration	ISS
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	ISS
GO:0030948	Process	Negative regulation of vascular endothelial growth factor receptor signaling pathway	IEA
GO:0030948	Process	Negative regulation of vascular endothelial growth factor receptor signaling pathway	ISS
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 23979707, 25037231, 27068509, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	IMP	26462740
GO:0032966	Process	Negative regulation of collagen biosynthetic process	IEA
GO:0032966	Process	Negative regulation of collagen biosynthetic process	ISS
GO:0033627	Process	Cell adhesion mediated by integrin	IEA
GO:0033627	Process	Cell adhesion mediated by integrin	ISO
GO:0034668	Component	Integrin alpha4-beta1 complex	IMP	18463100
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042127	Process	Regulation of cell population proliferation	ISO
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	10821830, 18463100, 25416956, 32296183
GO:0043065	Process	Positive regulation of apoptotic process	ISS
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045766	Process	Positive regulation of angiogenesis	ISO
GO:0048251	Process	Elastic fiber assembly	IEA
GO:0048251	Process	Elastic fiber assembly	ISS
GO:0050866	Process	Negative regulation of cell activation	IEA
GO:0050866	Process	Negative regulation of cell activation	ISS
GO:0060090	Function	Molecular adaptor activity	IMP	18463100
GO:0060392	Process	Negative regulation of SMAD protein signal transduction	IEA
GO:0060392	Process	Negative regulation of SMAD protein signal transduction	ISS
GO:0070062	Component	Extracellular exosome	HDA	21362503
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IEA
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	ISS
GO:0098640	Function	Integrin binding involved in cell-matrix adhesion	IMP	18463100
GO:1900426	Process	Positive regulation of defense response to bacterium	IDA	17988845
GO:1900747	Process	Negative regulation of vascular endothelial growth factor signaling pathway	IEA
GO:1900747	Process	Negative regulation of vascular endothelial growth factor signaling pathway	ISS
GO:1901203	Process	Positive regulation of extracellular matrix assembly	IEA
GO:1901203	Process	Positive regulation of extracellular matrix assembly	ISS
GO:1901731	Process	Positive regulation of platelet aggregation	ISS
GO:1904027	Process	Negative regulation of collagen fibril organization	IEA
GO:1904027	Process	Negative regulation of collagen fibril organization	ISS
GO:1905522	Process	Negative regulation of macrophage migration	IEA
GO:1905522	Process	Negative regulation of macrophage migration	ISS
GO:1990971	Component	EMILIN complex	IMP	18463100
GO:1990971	Component	EMILIN complex	IPI	10821830

Other IDs

• MIM: 130660
• HGNC: 19880
• e!Ensembl: ENSG00000138080

Protein

• UniProt ID: Q9Y6C2
• Protein name: EMILIN-1 (Elastin microfibril interface-located protein 1) (Elastin microfibril interfacer 1)
• Protein function: Involved in elastic and collagen fibers formation. It is required for EFEMP2 deposition into the extracellular matrix, and collagen network assembly and cross-linking via protein-lysine 6-oxidase/LOX activity (PubMed:36351433). May be responsibl
• PDB: 2KA3, 2OII
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07546	EMI	57 → 126	EMI domain	Domain
  PF01391	Collagen	812 → 870	Collagen triple helix repeat (20 copies)	Repeat
  PF00386	C1q	872 → 1007	C1q domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Distributed in tissues where resilience and elastic recoil are prominent. Highest levels in the adult small intestine, aorta, lung, uterus, and appendix and in the fetal spleen, kidney, lung, and heart; intermediate expression was dete
• Sequence:

  MAPRTLWSCYLCCLLTAAAGAASYPPRGFSLYTGSSGALSPGGPQAQIAPRPASRHRNWC
  AYVVTRTVSCVLEDGVETYVKYQPCAWGQPQCPQSIMYRRFLRPRYRVAYKTVTDMEWRC
  CQGYGGDDCAESPAPALGPASSTPRPLARPARPNLSGSSAGSPLSGLGGEGPGESEKVQQ
  LEEQVQSLTKELQGLRGVLQGLSGRLAEDVQRAVETAFNGRQQPADAAARPGVHETLNEI
  QHQLQLLDTRVSTHDQELGHLNNHHGGSSSSGGSRAPAPASAPPGPSEELLRQLEQRLQE
  SCSVCLAGLDGFRRQQQEDRERLRAMEKLLASVEERQRHLAGLAVGRRPPQECCSPELGR
  RLAELERRLDVVAGSVTVLSGRRGTELGGAAGQGGHPPGYTSLASRLSRLEDRFNSTLGP
  SEEQEESWPGAPGGLSHWLPAARGRLEQLGGLLANVSGELGGRLDLLEEQVAGAMQACGQ
  LCSGAPGEQDSQVSEILSALERRVLDSEGQLRLVGSGLHTVEAAGEARQATLEGLQEVVG
  RLQDRVDAQDETAAEFTLRLNLTAARLGQLEGLLQAHGDEGCGACGGVQEELGRLRDGVE
  RCSCPLLPPRGPGAGPGVGGPSRGPLDGFSVFGGSSGSALQALQGELSEVILSFSSLNDS
  LNELQTTVEGQGADLADLGATKDRIISEINRLQQEATEHATESEERFRGLEEGQAQAGQC
  PSLEGRLGRLEGVCERLDTVAGGLQGLREGLSRHVAGLWAGLRETNTTSQMQAALLEKLV
  GGQAGLGRRLGALNSSLQLLEDRLHQLSLKDLTGPAGEAGPPGPPGLQGPPGPAGPPGSP
  GKDGQEGPIGPPGPQGEQGVEGAPAAPVPQVAFSAALSLPRSEPGTVPFDRVLLNDGGYY
  DPETGVFTAPLAGRYLLSAVLTGHRHEKVEAVLSRSNQGVARVDSGGYEPEGLENKPVAE
  SQPSPGTLGVFSLILPLQAGDTVCVDLVMGQLAHSEEPLTIFSGALLYGDPELEHA

• Sequence length: 1016

Pathways

Reactome:

Molecules associated with elastic fibres

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Arterial tortuosity	Pathogenic	rs2465598493, rs976135721, rs758895857, rs2465592536, rs1445463863	RCV002282607 RCV002282608 RCV002282610 RCV002282685 RCV002282686	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arterial tortuosity-bone fragility syndrome	Pathogenic	rs2465598493, rs976135721, rs758895857, rs2465592536	RCV004601538 RCV004601539 RCV004601540 RCV004603154	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, autosomal dominant 10	Pathogenic	rs1194309134	RCV002292405	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CONTRACTURAL ARACHNODACTYLY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMILIN-1-related connective tissue disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMILIN1-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aortic Aneurysm	Aortic aneurysm	Pubtator	40222083	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	29158612	Associate	★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	28812215		★☆☆☆☆ Found in Text Mining only
Arterial Tortuosity Syndrome	Arterial tortuosity syndrome	Pubtator	40222083	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	30737471	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27581738	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39958347	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	27581738	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19922630	Associate	★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	28088687	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	40222083	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31479698		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31479698		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	29746167		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	28701001		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	26462740		★☆☆☆☆ Found in Text Mining only
EMILIN-1-related connective tissue disease	Connective Tissue Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Hypertension	Hypertension	BEFREE	19922630, 20186130, 21753788		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	19922630	Associate	★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19922630	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16530041, 17698584, 19922630, 22639547, 30354220		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27581738	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31479698		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24513040		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31242895		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31479698		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24513040, 26226845, 28177903, 31479698		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23063503		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31242895		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31242895	Associate	★☆☆☆☆ Found in Text Mining only