EMILIN1 [The Human Chemical-Genetic Interaction Map Project]

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======= EMILIN1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: EMILIN1
  * **<color #00a2e8>Official Name</color>**: elastin microfibril interfacer 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=11117|11117]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9Y6C2|Q9Y6C2]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=EMILIN1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EMILIN1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/130660|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Collagen|
|EMI|
|C1q|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|EMILIN complex|
|integrin alpha4-beta1 complex|
|negative regulation of collagen fibril organization|
|integrin binding involved in cell-matrix adhesion|
|regulation of collagen fibril organization|
|positive regulation of extracellular matrix assembly|
|elastic fiber assembly|
|regulation of extracellular matrix assembly|
|extracellular matrix constituent conferring elasticity|
|negative regulation of collagen biosynthetic process|
|negative regulation of macrophage migration|
|negative regulation of collagen metabolic process|
|negative regulation of extracellular matrix organization|
|negative regulation of pathway-restricted SMAD protein phosphorylation|
|negative regulation of vascular endothelial growth factor receptor signaling pathway|
|extracellular matrix assembly|
|positive regulation of extracellular matrix organization|
|aortic valve morphogenesis|
|aortic valve development|
|protein homotrimerization|
|regulation of vascular endothelial growth factor receptor signaling pathway|
|regulation of collagen biosynthetic process|
|regulation of macrophage migration|
|semi-lunar valve development|
|regulation of extracellular matrix organization|
|regulation of collagen metabolic process|
|negative regulation of leukocyte migration|
|heart valve morphogenesis|
|protein trimerization|
|collagen trimer|
|regulation of pathway-restricted SMAD protein phosphorylation|
|heart valve development|
|negative regulation of ERK1 and ERK2 cascade|
|negative regulation of transforming growth factor beta receptor signaling pathway|
|negative regulation of cellular response to transforming growth factor beta stimulus|
|negative regulation of angiogenesis|
|negative regulation of blood vessel morphogenesis|
|regulation of transforming growth factor beta receptor signaling pathway|
|negative regulation of vasculature development|
|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|regulation of cellular response to transforming growth factor beta stimulus|
|positive regulation of cell-substrate adhesion|
|cell-matrix adhesion|
|negative regulation of supramolecular fiber organization|
|extracellular matrix structural constituent|
|negative regulation of cellular response to growth factor stimulus|
|negative regulation of MAPK cascade|
|cell-substrate adhesion|
|regulation of leukocyte migration|
|negative regulation of cell activation|
|regulation of cell-substrate adhesion|
|extracellular matrix|
|regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|negative regulation of cell migration|
|regulation of cellular response to growth factor stimulus|
|negative regulation of cell motility|
|regulation of angiogenesis|
|regulation of ERK1 and ERK2 cascade|
|negative regulation of cellular component movement|
|regulation of vasculature development|
|negative regulation of locomotion|
|protein homooligomerization|
|extracellular matrix organization|
|regulation of supramolecular fiber organization|
|collagen-containing extracellular matrix|
|extracellular structure organization|
|positive regulation of cell adhesion|
|negative regulation of protein phosphorylation|
|negative regulation of immune system process|
|negative regulation of phosphorylation|
|supramolecular fiber organization|
|negative regulation of intracellular signal transduction|
|protein complex oligomerization|
|positive regulation of cellular component biogenesis|
|heart development|
|negative regulation of phosphate metabolic process|
|negative regulation of phosphorus metabolic process|
|negative regulation of protein modification process|
|regulation of cell activation|
|regulation of cell adhesion|
|negative regulation of cellular component organization|
|regulation of MAPK cascade|
|regulation of cell migration|
|circulatory system development|
|regulation of cell motility|
|cell adhesion|
|biological adhesion|
|negative regulation of developmental process|
|regulation of cellular component biogenesis|
|cell migration|
|regulation of locomotion|
|regulation of cellular component movement|
|negative regulation of cellular protein metabolic process|
|regulation of anatomical structure morphogenesis|
|identical protein binding|
|localization of cell|
|cell motility|
|negative regulation of protein metabolic process|
|negative regulation of multicellular organismal process|
|positive regulation of cellular component organization|
|negative regulation of signal transduction|
|locomotion|
|negative regulation of cell communication|
|negative regulation of signaling|
|regulation of protein phosphorylation|
|negative regulation of biosynthetic process|
|movement of cell or subcellular component|
|protein-containing complex assembly|
|regulation of phosphorylation|
|extracellular space|
|negative regulation of response to stimulus|
|regulation of immune system process|
|negative regulation of gene expression|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of intracellular signal transduction|
|regulation of protein modification process|
|protein-containing complex subunit organization|
|extracellular region|
|positive regulation of gene expression|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp156|UNC2400 2μM R03 exp156]]|-1.81|
|[[:results:exp79|Q15 2.7μM R02 exp79]]|1.79|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 4468
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.02 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='EMILIN1 Expression in NALM6 Cells: 1.02'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>