EMILIN1

Gene Information

Official Symbol: EMILIN1
Official Name: elastin microfibril interfacer 1
Aliases and Previous Symbols: N/A
Entrez ID: 11117
UniProt: Q9Y6C2
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez 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 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].
UniProt Summary: 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.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics 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

Essentiality in NALM6

Essentiality Rank: 4468
Expression level (log2 read counts): 1.02

Expression Distribution

Screen	Score
UNC2400 2μM R03 exp156	-1.81
Q15 2.7μM R02 exp79	1.79

Collagen
EMI
C1q

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