ACVR1 Antibody – Rabbit Polyclonal

Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric 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 all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]

ALK2: 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. Receptor for activin. May be involved for left-right pattern formation during embryogenesis. Interacts with FKBP1A. Interacts with FCHO1. Expressed in normal parenchymal cells, endothelial cells, fibroblasts and tumor-derived epithelial cells. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.

Protein type: Kinase, protein; Protein kinase, Ser/Thr (receptor); Protein kinase, TKL; EC 2.7.11.30; Membrane protein, integral; TKL group; STKR family; Type1 subfamily

Chromosomal Location of Human Ortholog: 2q23-q24

Cellular Component: activin receptor complex; apical part of cell; integral to plasma membrane

Molecular Function: activin binding; activin receptor activity, type I; ATP binding; metal ion binding; peptide hormone binding; protein binding; protein homodimerization activity; protein kinase activity; protein serine/threonine kinase activity; receptor signaling protein serine/threonine kinase activity; SMAD binding; transforming growth factor beta binding; transforming growth factor beta receptor activity, type I; transmembrane receptor protein serine/threonine kinase activity

Biological Process: activin receptor signaling pathway; acute inflammatory response; BMP signaling pathway; determination of left/right symmetry; G1/S transition of mitotic cell cycle; gastrulation with mouth forming second; germ cell development; in utero embryonic development; mesoderm formation; negative regulation of activin receptor signaling pathway; negative regulation of signal transduction; neural crest cell migration; patterning of blood vessels; peptidyl-threonine phosphorylation; pharyngeal system development; positive regulation of bone mineralization; positive regulation of cell migration; positive regulation of osteoblast differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; protein amino acid phosphorylation; regulation of ossification; smooth muscle cell differentiation; transforming growth factor beta receptor signaling pathway

Disease: Fibrodysplasia Ossificans Progressiva