Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11117
Gene name	Elastin microfibril interfacer 1
Gene symbol	EMILIN1
Synonyms (NCBI Gene)	ATBFSEMIEMILINHMN10HMND10gp115
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

Show/Hide all (19)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all (70)

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

MIM	HGNC	e!Ensembl
130660	19880	ENSG00000138080

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

Interactions

View interactions

	Reactome
			Molecules associated with elastic fibres

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arterial tortuosity	Pathogenic	rs2465598493, rs976135721, rs758895857, rs2465592536, rs1445463863	RCV002282607 RCV002282608 RCV002282610 RCV002282685 RCV002282686
Arterial tortuosity-bone fragility syndrome	Pathogenic	rs2465598493, rs976135721, rs758895857, rs2465592536	RCV004601538 RCV004601539 RCV004601540 RCV004603154
Neuronopathy, distal hereditary motor, autosomal dominant 10	Pathogenic	rs1194309134	RCV002292405

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs150596062	RCV005922290
Cervical cancer	Likely benign	rs150596062	RCV005922293
Cholangiocarcinoma	Likely benign	rs150596062	RCV005922296
EMILIN-1-related connective tissue disease	Uncertain significance	rs200339477	RCV001825219
EMILIN1-related disorder	Likely benign; Uncertain significance; Benign	rs150596062, rs746388086, rs369625702, rs141405321, rs11693182, rs34638599, rs75246647, rs111860478, rs36045790, rs10186315, rs202187885, rs138622931, rs200873278, rs36035398, rs36069611	RCV003921346 RCV003402393 RCV003954222 RCV003909409 RCV003904168 RCV003906851 RCV003964485 RCV003952002 RCV003917114 RCV003949303 RCV003956806 RCV003971512 RCV003969052 RCV003916117 RCV003968295
Familial cancer of breast	Likely benign	rs150596062	RCV005922289
Lung cancer	Likely benign	rs150596062	RCV005922297
Lymphoma	Likely benign	rs150596062	RCV005922294
Malignant tumor of esophagus	Likely benign	rs150596062	RCV005922291
Nonpapillary renal cell carcinoma	Likely benign	rs150596062	RCV005922292
Ovarian serous cystadenocarcinoma	Likely benign; Uncertain significance	rs150596062, rs761282085	RCV005922295 RCV005928912
Prostate cancer	Uncertain significance	rs753987568	RCV000206196

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aortic Aneurysm	Associate	40222083
Aortic Aneurysm Thoracic	Associate	29158612
Arterial Tortuosity Syndrome	Associate	40222083
Brain Neoplasms	Associate	30737471
Breast Neoplasms	Inhibit	27581738
Breast Neoplasms	Associate	39958347
Carcinoma Ductal Breast	Associate	27581738
Carcinoma Renal Cell	Associate	19922630
Carcinosarcoma	Associate	28088687
Cardiovascular Diseases	Associate	40222083
Essential Hypertension	Associate	19922630
Hypertension	Associate	19922630
Hypoxia	Associate	27581738
Neoplasms	Associate	26226845, 27581738, 28088687, 29207374, 30544909
Neoplasms	Inhibit	31242895
Stomach Neoplasms	Associate	31242895

EMILIN1 (elastin microfibril interfacer 1)