Aliases for ACVRL1 Gene
External Ids for ACVRL1 Gene
Previous HGNC Symbols for ACVRL1 Gene
Previous GeneCards Identifiers for ACVRL1 Gene
This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
GeneCards Summary for ACVRL1 Gene
ACVRL1 (Activin A Receptor Like Type 1) is a Protein Coding gene. Diseases associated with ACVRL1 include Telangiectasia, Hereditary Hemorrhagic, Type 2 and Hereditary Hemorrhagic Telangiectasia. Among its related pathways are TGF-beta Signaling Pathways and DREAM Repression and Dynorphin Expression. 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 ACVR1.
UniProtKB/Swiss-Prot Summary for ACVRL1 Gene
Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well.