InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ACVRL1

Summary

InnateDB Protein

IDBP-33832.5

Last Modified

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

Gene Symbol

ACVRL1

Protein Name

activin A receptor type II-like 1

Synonyms

ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3; TSR-I;

Species

Homo sapiens

Ensembl Protein

ENSP00000373574

InnateDB Gene

IDBG-33826 (ACVRL1)

Protein Structure

UniProt Annotation

Function

Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well. {ECO:0000269PubMed:22718755, ECO:0000269PubMed:22799562}.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]: 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:10694922, ECO:0000269PubMed:10767348, ECO:0000269PubMed:11170071, ECO:0000269PubMed:11484689, ECO:0000269PubMed:14684682, ECO:0000269PubMed:15024723, ECO:0000269PubMed:15712270, ECO:0000269PubMed:16525724, ECO:0000269PubMed:16752392, ECO:0000269PubMed:20414677, ECO:0000269PubMed:8640225, ECO:0000269PubMed:9245985}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	31 [view]
Protein-Protein	31 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004672	protein kinase activity
GO:0004674	protein serine/threonine kinase activity
GO:0004675	transmembrane receptor protein serine/threonine kinase activity
GO:0004702	receptor signaling protein serine/threonine kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0005024	transforming growth factor beta-activated receptor activity
GO:0005025	transforming growth factor beta receptor activity, type I
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016361	activin receptor activity, type I
GO:0016772	transferase activity, transferring phosphorus-containing groups
GO:0019901	protein kinase binding
GO:0046332	SMAD binding
GO:0046872	metal ion binding
GO:0048185	activin binding
GO:0050431	transforming growth factor beta binding

Biological Process

GO:0001525	angiogenesis
GO:0001701	in utero embryonic development
GO:0001936	regulation of endothelial cell proliferation
GO:0001937	negative regulation of endothelial cell proliferation
GO:0001938	positive regulation of endothelial cell proliferation
GO:0001946	lymphangiogenesis
GO:0001955	blood vessel maturation
GO:0001974	blood vessel remodeling
GO:0002043	blood vessel endothelial cell proliferation involved in sprouting angiogenesis
GO:0006275	regulation of DNA replication
GO:0006355	regulation of transcription, DNA-templated
GO:0006468	protein phosphorylation
GO:0007162	negative regulation of cell adhesion
GO:0007165	signal transduction
GO:0007179	transforming growth factor beta receptor signaling pathway
GO:0008015	blood circulation
GO:0008217	regulation of blood pressure
GO:0008285	negative regulation of cell proliferation
GO:0010596	negative regulation of endothelial cell migration
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0030308	negative regulation of cell growth
GO:0030336	negative regulation of cell migration
GO:0030509	BMP signaling pathway
GO:0030513	positive regulation of BMP signaling pathway
GO:0032332	positive regulation of chondrocyte differentiation
GO:0032924	activin receptor signaling pathway
GO:0035313	wound healing, spreading of epidermal cells
GO:0043535	regulation of blood vessel endothelial cell migration
GO:0043537	negative regulation of blood vessel endothelial cell migration
GO:0045602	negative regulation of endothelial cell differentiation
GO:0045603	positive regulation of endothelial cell differentiation
GO:0045766	positive regulation of angiogenesis
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048514	blood vessel morphogenesis
GO:0051291	protein heterooligomerization
GO:0051895	negative regulation of focal adhesion assembly
GO:0060836	lymphatic endothelial cell differentiation
GO:0060840	artery development
GO:0060841	venous blood vessel development
GO:0061154	endothelial tube morphogenesis
GO:0061298	retina vasculature development in camera-type eye
GO:0071560	cellular response to transforming growth factor beta stimulus
GO:0071773	cellular response to BMP stimulus
GO:2000279	negative regulation of DNA biosynthetic process

Cellular Component

GO:0005887	integral component of plasma membrane
GO:0009986	cell surface
GO:0016020	membrane
GO:0030425	dendrite
GO:0043025	neuronal cell body

Protein Structure and Domains

PDB ID

InterPro

IPR000333 Ser/Thr protein kinase, TGFB receptor
IPR000719 Protein kinase domain
IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain
IPR003605 TGF beta receptor, GS motif
IPR011009 Protein kinase-like domain
IPR020635 Tyrosine-protein kinase, catalytic domain

PFAM

PF00069
PF07714
PF08515

PRINTS

PR00653
PR00109

PIRSF

SMART

SM00220
SM00467
SM00219

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt