ACVRL1 Antibody – Rabbit Polyclonal

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]

ALK1: a kinase of the STKR family. A type I cell-surface receptor for the TGF-beta superfamily of ligands including Activin A. Highly expressed in human placenta and lung. Deficiency causes hemorrhagic telangiectasia type 2 also known as Rendu-Osler-Weber syndrome 2.

Protein type: Membrane protein, integral; Protein kinase, TKL; Kinase, protein; EC 2.7.11.30; Protein kinase, Ser/Thr (receptor); TKL group; STKR family; Type1 subfamily

Chromosomal Location of Human Ortholog: 12q13.13

Cellular Component: cell surface; cell soma; integral to plasma membrane; dendrite

Molecular Function: transforming growth factor beta receptor activity; protein serine/threonine kinase activity; protein binding; activin receptor activity, type I; transforming growth factor beta binding; transforming growth factor beta receptor activity, type I; metal ion binding; activin binding; SMAD binding; protein kinase binding; transmembrane receptor protein serine/threonine kinase activity; ATP binding; receptor signaling protein serine/threonine kinase activity

Biological Process: protein heterooligomerization; blood circulation; positive regulation of transcription, DNA-dependent; activin receptor signaling pathway; negative regulation of cell adhesion; regulation of blood vessel endothelial cell migration; signal transduction; protein amino acid phosphorylation; BMP signaling pathway; negative regulation of cell proliferation; positive regulation of endothelial cell differentiation; negative regulation of endothelial cell differentiation; regulation of transcription, DNA-dependent; transforming growth factor beta receptor signaling pathway; regulation of blood pressure; lymphangiogenesis; angiogenesis; negative regulation of cell migration; positive regulation of BMP signaling pathway; regulation of DNA replication; regulation of endothelial cell proliferation; in utero embryonic development; negative regulation of focal adhesion formation; negative regulation of blood vessel endothelial cell migration; blood vessel maturation; blood vessel endothelial cell proliferation during sprouting angiogenesis; positive regulation of angiogenesis; positive regulation of chondrocyte differentiation; negative regulation of endothelial cell proliferation; positive regulation of endothelial cell proliferation; blood vessel remodeling; positive regulation of transcription from RNA polymerase II promoter; negative regulation of cell growth; wound healing, spreading of epidermal cells

Disease: Telangiectasia, Hereditary Hemorrhagic, Type 2