ACVRL1 Recombinant Monoclonal Antibody

Uniprot Id

P37023

Target Species

Human

Target Name

ACVRL1

Target Full Name

Activin receptor type-1-like

Target 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.

Target Involvement

Telangiectasia, hereditary hemorrhagic, 2 (HHT2)

Target Subcellular Location

Cell membrane; Single-pass type I membrane protein.

Target Protein Families

Protein kinase superfamily, TKL Ser/Thr protein kinase family, TGFB receptor subfamily

Target Synonyms

ACVRL1; ACVRLK1; ALK1; Serine/threonine-protein kinase receptor R3; SKR3; Activin receptor-like kinase 1; ALK-1; TGF-B superfamily receptor type I; TSR-I

Target Background

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.