Aliases for ACVR1C Gene
External Ids for ACVR1C Gene
Previous GeneCards Identifiers for ACVR1C Gene
ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]
GeneCards Summary for ACVR1C Gene
ACVR1C (Activin A Receptor Type 1C) is a Protein Coding gene. Diseases associated with ACVR1C include Myositis Ossificans. Among its related pathways are Developmental Biology and Signaling pathways regulating pluripotency of stem cells. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TGFBR1.
UniProtKB/Swiss-Prot Summary for ACVR1C Gene
Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and apoptosis.
Activin receptors transduce signals carried by the TGF-beta family of ligands. Such ligands include activin and bone morphogenetic proteins (BMPs). Members of this family are involved in a range of processes, including embryogenesis and tissue homeostasis.