Activins are a type of dimeric growth and differentiation factor that belong to the transforming growth factor-beta (TGF-beta) superfamily of signaling proteins. They signal through a complex of receptor serine kinases, which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are transmembrane proteins that have a ligand-binding extracellular domain with a cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling, while type II receptors are required for binding ligands and for the expression of type I receptors. Upon ligand binding, type I and II receptors form a stable complex, resulting in the phosphorylation of type I receptors by type II receptors. The ACVR1 gene encodes activin A type I receptor, which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene have been linked to Fibrodysplasia Ossificans Progressiva (FOP), a rare genetic disorder characterized by the formation of bone in muscles, tendons, and other connective tissues, as well as Epicanthus.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: activin A receptor type II-like 1; activin A receptor type IL; activin A receptor, type II-like kinase 1; Activin receptor-like kinase 1; ALK-1; Serine/threonine-protein kinase receptor R3; SKR3; TGF-B superfamily receptor type I; TSR-I
Gene Aliases: ACVRL1; ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3; TSR-I
UniProt ID: (Human) P37023
Entrez Gene ID: (Human) 94
Molecular Function: serine/threonine protein kinase receptor