activin A receptor type 1
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Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedAutosomal recessive primary hypertrophic osteoarthropathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEhlers Danlos syndrome with a likely monogenic cause
Iron metabolism disorders - NOT common HFE mutations
BIALLELIC, autosomal or pseudoautosomalThoracic aortic aneurysm or dissection
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted+1 more panels — install the extension to see the full list inline on any page.
fibrodysplasia ossificans progressiva
myelofibrosis
neoplasm
primary myelofibrosis
neurodegenerative disease
hereditary disease
bone disorder
pancreatic ductal adenocarcinoma
acquired polycythemia vera
Splenomegaly
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Activin receptor type-1
Bone morphogenetic protein (BMP) type I receptor that is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system development and regulation (PubMed:20628059, PubMed:22977237). As a type I receptor, forms heterotetrameric receptor complexes with the type II receptors AMHR2, ACVR2A or ACVR2B (PubMed:17911401). 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). In addition to its role in mediating BMP pathway-specific signaling, suppresses TGFbeta/activin pathway signaling by interfering with the binding of activin to its type II receptor (PubMed:17911401). Besides canonical SMAD signaling, can activate non-canonical pathways such as p38 mitogen-activated protein kinases/MAPKs (By similarity). May promote the expression of HAMP, potentially via its interaction with BMP6 (By similarity)
Curated MONDO disease pages that list ACVR1 among their top associated genes.
ACVR1 · Q04771
Mean pLDDT
83.1/ 100
Confident
509 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
