• Gene id: 11117

Gene Summary

• Gene Symbol: EMILIN1   Gene   UCSC   Ensembl
• Aliases: EMI, EMILIN, gp115
• Gene name: elastin microfibril interfacer 1
• Alternate names: EMILIN-1, elastin microfibril interface-located protein 1,
• Gene location: 2p23.3 (27078614: 27086402)     Exons: 8     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 138333

Protein Summary

• Protein general information: Q9Y6C2  
  • Name: EMILIN 1 (Elastin microfibril interface located protein 1) (Elastin microfibril interfacer 1)
  • Length: 1016  
  • Mass: 106695
  • 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:

  MAPRTLWSCYLCCLLTAAAGAASYPPRGFSLYTGSSGALSPGGPQAQIAPRPASRHRNWCAYVVTRTVSCVLEDG
  VETYVKYQPCAWGQPQCPQSIMYRRFLRPRYRVAYKTVTDMEWRCCQGYGGDDCAESPAPALGPASSTPRPLARP
  ARPNLSGSSAGSPLSGLGGEGPGESEKVQQLEEQVQSLTKELQGLRGVLQGLSGRLAEDVQRAVETAFNGRQQPA
  DAAARPGVHETLNEIQHQLQLLDTRVSTHDQELGHLNNHHGGSSSSGGSRAPAPASAPPGPSEELLRQLEQRLQE
  SCSVCLAGLDGFRRQQQEDRERLRAMEKLLASVEERQRHLAGLAVGRRPPQECCSPELGRRLAELERRLDVVAGS
  VTVLSGRRGTELGGAAGQGGHPPGYTSLASRLSRLEDRFNSTLGPSEEQEESWPGAPGGLSHWLPAARGRLEQLG
  GLLANVSGELGGRLDLLEEQVAGAMQACGQLCSGAPGEQDSQVSEILSALERRVLDSEGQLRLVGSGLHTVEAAG
  EARQATLEGLQEVVGRLQDRVDAQDETAAEFTLRLNLTAARLGQLEGLLQAHGDEGCGACGGVQEELGRLRDGVE
  RCSCPLLPPRGPGAGPGVGGPSRGPLDGFSVFGGSSGSALQALQGELSEVILSFSSLNDSLNELQTTVEGQGADL
  ADLGATKDRIISEINRLQQEATEHATESEERFRGLEEGQAQAGQCPSLEGRLGRLEGVCERLDTVAGGLQGLREG
  LSRHVAGLWAGLRETNTTSQMQAALLEKLVGGQAGLGRRLGALNSSLQLLEDRLHQLSLKDLTGPAGEAGPPGPP
  GLQGPPGPAGPPGSPGKDGQEGPIGPPGPQGEQGVEGAPAAPVPQVAFSAALSLPRSEPGTVPFDRVLLNDGGYY
  DPETGVFTAPLAGRYLLSAVLTGHRHEKVEAVLSRSNQGVARVDSGGYEPEGLENKPVAESQPSPGTLGVFSLIL
  PLQAGDTVCVDLVMGQLAHSEEPLTIFSGALLYGDPELEHA

• Structural information:
  • Protein Domains: (56..13-)
    (/note="EMI-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00384-)
    (814..86-)
    (/note="Collagen-like-)
    (866..101-)
    (/note="C1q-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00368"-)
  • Interpro: IPR001073  IPR008160  IPR011489  IPR008983  
  • Prosite: PS50871 PS51041
  • PDB: 2KA3 2OII
  • PDBsum: 2KA3 2OII
  • DIP: 35733
  • STRING: ENSP00000369677
• Other Databases: GeneCards:  EMILIN1  Malacards:  EMILIN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030023	extracellular matrix constituent conferring elasticity	IBA	molecular function
GO:0005615	extracellular space	IMP	cellular component
GO:0062023	collagen-containing extracellular matrix	IMP	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005581	collagen trimer	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1905522	negative regulation of macrophage migration	IEA	biological process
GO:1904027	negative regulation of collagen fibril organization	IEA	biological process
GO:1901203	positive regulation of extracellular matrix assembly	IEA	biological process
GO:0060394	negative regulation of pathway-restricted SMAD protein phosphorylation	IEA	biological process
GO:0050866	negative regulation of cell activation	IEA	biological process
GO:0032966	negative regulation of collagen biosynthetic process	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0030948	negative regulation of vascular endothelial growth factor receptor signaling pathway	IEA	biological process
GO:0030023	extracellular matrix constituent conferring elasticity	IEA	molecular function
GO:0016525	negative regulation of angiogenesis	IEA	biological process
GO:0010811	positive regulation of cell-substrate adhesion	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0048251	elastic fiber assembly	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0003180	aortic valve morphogenesis	IEA	biological process
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:1901203	positive regulation of extracellular matrix assembly	ISS	biological process
GO:0032966	negative regulation of collagen biosynthetic process	ISS	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0016525	negative regulation of angiogenesis	ISS	biological process
GO:0030948	negative regulation of vascular endothelial growth factor receptor signaling pathway	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0050866	negative regulation of cell activation	ISS	biological process
GO:0050866	negative regulation of cell activation	ISS	biological process
GO:0060394	negative regulation of pathway-restricted SMAD protein phosphorylation	ISS	biological process
GO:1904027	negative regulation of collagen fibril organization	ISS	biological process
GO:1905522	negative regulation of macrophage migration	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0003180	aortic valve morphogenesis	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	ISS	biological process
GO:0048251	elastic fiber assembly	ISS	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:1990971	EMILIN complex	IMP	cellular component
GO:0007160	cell-matrix adhesion	IMP	biological process
GO:0034668	integrin alpha4-beta1 complex	IMP	cellular component
GO:0098640	integrin binding involved in cell-matrix adhesion	IMP	molecular function
GO:0016477	cell migration	IMP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030023	extracellular matrix constituent conferring elasticity	IBA	molecular function
GO:0005615	extracellular space	IMP	cellular component
GO:0062023	collagen-containing extracellular matrix	IMP	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005581	collagen trimer	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1905522	negative regulation of macrophage migration	IEA	biological process
GO:1904027	negative regulation of collagen fibril organization	IEA	biological process
GO:1901203	positive regulation of extracellular matrix assembly	IEA	biological process
GO:0060394	negative regulation of pathway-restricted SMAD protein phosphorylation	IEA	biological process
GO:0050866	negative regulation of cell activation	IEA	biological process
GO:0032966	negative regulation of collagen biosynthetic process	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0030948	negative regulation of vascular endothelial growth factor receptor signaling pathway	IEA	biological process
GO:0030023	extracellular matrix constituent conferring elasticity	IEA	molecular function
GO:0016525	negative regulation of angiogenesis	IEA	biological process
GO:0010811	positive regulation of cell-substrate adhesion	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0048251	elastic fiber assembly	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0003180	aortic valve morphogenesis	IEA	biological process
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:1901203	positive regulation of extracellular matrix assembly	ISS	biological process
GO:0032966	negative regulation of collagen biosynthetic process	ISS	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0016525	negative regulation of angiogenesis	ISS	biological process
GO:0030948	negative regulation of vascular endothelial growth factor receptor signaling pathway	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0050866	negative regulation of cell activation	ISS	biological process
GO:0050866	negative regulation of cell activation	ISS	biological process
GO:0060394	negative regulation of pathway-restricted SMAD protein phosphorylation	ISS	biological process
GO:1904027	negative regulation of collagen fibril organization	ISS	biological process
GO:1905522	negative regulation of macrophage migration	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0003180	aortic valve morphogenesis	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	ISS	biological process
GO:0048251	elastic fiber assembly	ISS	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:1990971	EMILIN complex	IMP	cellular component
GO:0007160	cell-matrix adhesion	IMP	biological process
GO:0034668	integrin alpha4-beta1 complex	IMP	cellular component
GO:0098640	integrin binding involved in cell-matrix adhesion	IMP	molecular function
GO:0016477	cell migration	IMP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq