InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ENG

Summary

InnateDB Protein

IDBP-86586.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ENG

Protein Name

endoglin

Synonyms

END; HHT1; ORW1;

Species

Homo sapiens

Ensembl Protein

ENSP00000341917

InnateDB Gene

IDBG-86582 (ENG)

Protein Structure

UniProt Annotation

Function

Major glycoprotein of vascular endothelium. Involved in the regulation of angiogenesis. May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors. Acts as TGF-beta coreceptor and is involved in the TGF- beta/BMP signaling cascade. Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGF-beta1 signaling through SMAD3. {ECO:0000269PubMed:21737454, ECO:0000269PubMed:23300529}.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]: A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain. {ECO:0000269PubMed:10545596, ECO:0000269PubMed:10625079, ECO:0000269PubMed:10982033, ECO:0000269PubMed:15024723, ECO:0000269PubMed:15712270, ECO:0000269PubMed:16525724, ECO:0000269PubMed:16752392, ECO:0000269PubMed:20414677, ECO:0000269PubMed:9157574, ECO:0000269PubMed:9245986, ECO:0000269PubMed:9554745}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Endoglin is restricted to endothelial cells in all tissues except bone marrow.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	34 [view]
Protein-Protein	32 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004888	transmembrane signaling receptor activity
GO:0005024	transforming growth factor beta-activated receptor activity
GO:0005072	transforming growth factor beta receptor, cytoplasmic mediator activity
GO:0005114	type II transforming growth factor beta receptor binding
GO:0005515	protein binding
GO:0005534	galactose binding
GO:0005539	glycosaminoglycan binding
GO:0034713	type I transforming growth factor beta receptor binding
GO:0042803	protein homodimerization activity
GO:0048185	activin binding
GO:0050431	transforming growth factor beta binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001300	chronological cell aging
GO:0001569	patterning of blood vessels
GO:0001570	vasculogenesis
GO:0001666	response to hypoxia
GO:0001934	positive regulation of protein phosphorylation
GO:0001937	negative regulation of endothelial cell proliferation
GO:0001947	heart looping
GO:0003084	positive regulation of systemic arterial blood pressure
GO:0006355	regulation of transcription, DNA-templated
GO:0007155	cell adhesion
GO:0007179	transforming growth factor beta receptor signaling pathway
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0016477	cell migration
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway
GO:0022009	central nervous system vasculogenesis
GO:0022617	extracellular matrix disassembly
GO:0030155	regulation of cell adhesion
GO:0030336	negative regulation of cell migration
GO:0030509	BMP signaling pathway
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030513	positive regulation of BMP signaling pathway
GO:0031953	negative regulation of protein autophosphorylation
GO:0035556	intracellular signal transduction
GO:0042060	wound healing
GO:0042127	regulation of cell proliferation
GO:0042325	regulation of phosphorylation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048745	smooth muscle tissue development
GO:0048844	artery morphogenesis
GO:0048845	venous blood vessel morphogenesis
GO:0048870	cell motility
GO:0051001	negative regulation of nitric-oxide synthase activity
GO:0060326	cell chemotaxis
GO:0060394	negative regulation of pathway-restricted SMAD protein phosphorylation
GO:0070483	detection of hypoxia

Cellular Component

GO:0005615	extracellular space
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0009897	external side of plasma membrane
GO:0009986	cell surface
GO:0070022	transforming growth factor beta receptor homodimeric complex