ACVR1

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]

Description

activin A receptor, type I

Protein family

Enzymes, Kinases, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Potentially secreted proteins

Chromosome

2:q24.1 (158592958 - 158732374)

Ensembl ID

ENSG00000115170  (ver. 71.37)

Orthologs

Mouse Acvr1: ENSMUSG00000026836

Human splice variants
Mouse splice variants