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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.
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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
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