ACVRL1

This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2.

Full Name

Activin A Receptor Like Type 1

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.

Biological Process

Angiogenesis
Artery development
Blood circulation
Blood vessel endothelial cell proliferation involved in sprouting angiogenesis
Blood vessel maturation
Blood vessel remodeling
BMP signaling pathway
Cellular response to BMP stimulus
Cellular response to growth factor stimulus
Cellular response to transforming growth factor beta stimulus
Dorsal/ventral pattern formation
Dorsal aorta morphogenesis
Endocardial cushion morphogenesis
Endothelial tube morphogenesis
Heart development
Lymphangiogenesis
Lymphatic endothelial cell differentiation
Negative regulation of blood vessel endothelial cell migration
Negative regulation of cell adhesion
Negative regulation of cell growth
Negative regulation of cell migration
Negative regulation of cell population proliferation
Negative regulation of DNA biosynthetic process
Negative regulation of endothelial cell migration
Negative regulation of focal adhesion assembly
Negative regulation of gene expression
Positive regulation of BMP signaling pathway
Positive regulation of chondrocyte differentiation
Positive regulation of pathway-restricted SMAD protein phosphorylation
Positive regulation of transcription, DNA-templated
Positive regulation of transcription by RNA polymerase II
Protein phosphorylation
Regulation of blood pressure
Regulation of blood vessel endothelial cell migration
Regulation of DNA replication
Regulation of endothelial cell proliferation
Regulation of transcription, DNA-templated
Retina vasculature development in camera-type eye
Signal transduction
Transforming growth factor beta receptor signaling pathway
Venous blood vessel development
Wound healing, spreading of epidermal cells

Cellular Location

Cell membrane

Involvement in disease

Telangiectasia, hereditary hemorrhagic, 2 (HHT2): 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.

Topology

Extracellular: 22-118 aa
Helical: 119-141 aa
Cytoplasmic: 142-503 aa