Gene Summary: ACVRL1 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 ACVRL1 gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]General information above from NCBI
Catalytic activity: ATP + [receptor-protein] = ADP + [receptor- protein] phosphate.
Cofactor: Magnesium or manganese (By similarity).
Subcellular location: Membrane; Single-pass type I membrane protein.
Involvement in disease: Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]: Autosomal dominant multisystemic vascular dysplasia, characterized by recurrent epistaxis, muco-cutaneous telangiectases, gastro-intestinal hemorrhage, and pulmonary, cerebral and hepatic arteriovenous malformations; all secondary manifestations of the underlying vascular dysplasia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Contains 1 GS domain.
Contains 1 protein kinase domain.
General information above from UniProt