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 Signaling by NODAL and TGF-beta signaling pathway (KEGG). 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 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.