Activin A receptor, type I (ACVR1) is a protein which in humans is encoded by the ACVR1 gene; it is also known as ALK-2 (activin receptor-like kinase-2). [5] ACVR1 has been linked to the 2q23-24 region of the genome. [6]

Dec 24, 2024 · ACVR1 (Activin A Receptor Type 1) is a Protein Coding gene. Diseases associated with ACVR1 include Fibrodysplasia Ossificans Progressiva and Epicanthus. Among its related pathways are Akt Signaling and NF-kappaB Pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity.

The ACVR1 gene provides instructions for making the activin receptor type-1 (ACVR1) protein, which is a member of a protein family called bone morphogenetic protein (BMP) type I receptors. Learn about this gene and related health conditions.

Feb 8, 2025 · Pathogenic ACVR1(R206H) activation by Activin A-induced receptor clustering and autophosphorylation. ACVR1(R206H) extends inflammatory responses in human induced pluripotent stem cell-derived macrophages. Structural basis for ALK2/BMPR2 receptor complex signaling through kinase domain oligomerization.

Activin receptor type I (ACVR1) is a transmembrane kinase receptor belonging to bone morphogenic protein receptors (BMPs). ACVR1 plays an important role in hematopoiesis and anemia via the BMP6/ACVR1/SMAD pathway, which regulates expression of hepcidin, the master regulator of iron homeostasis.

Oct 31, 2019 · Activin A receptor type I (ACVR1) encodes for a bone morphogenetic protein type I receptor of the TGFβ receptor superfamily. It is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system development and regulation.

In this article, we present a speculative analysis of two aspects of the FOP pathogenesis related to the ACVR1 mutation itself: (a) why a single mutation has such a high prevalence in FOP patients; and (b) how the expression of ACVR1 can be modulated by cis -acting variants in the surrounding genomic region of the gene in human chromosome 2q, th...

The same antibodies could block heterotopic ossification (HO) in mice with wildtype Acvr1, but they exacerbated HO in a mouse model of FOP with a knockin R206H mutation in Acvr1 by activating signaling of the Acvr1 mutant.

Mar 2, 2024 · 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 …

Upon binding of ligands such as BMP7 or GDF2/BMP9 to the heteromeric complexes, type II receptors transphosphorylate ACVR1 intracellular domain (PubMed: 25354296). In turn, ACVR1 kinase domain is activated and subsequently phosphorylates SMAD1/5/8 proteins that transduce the signal (PubMed: 9748228).