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 Type II-Like 1) is a Protein Coding gene. Diseases associated with ACVRL1 include acvrl1-related hereditary hemorrhagic telangiectasia and telangiectasia, hereditary hemorrhagic, type 2. Among its related pathways are Akt Signaling and PAK Pathway. 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 TGFBR2.
UniProtKB/Swiss-Prot 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.