Overview:

ALK1 is a serine/threonine-protein kinase receptor R3 precursor that mediates signal by TGFβ superfamily (1). ALK1 functions as a TGFβ type I receptor in endothelial cells and is responsible for human hereditary hemorrhagic telangiectasia (HHT) type II. Distinct Smad proteins (i.e., Smad2/Smad3 and Smad1/Smad5) show interaction with ALK1 and mediate TGFβ signaling. Northern blot and RT-PCR analysis show that ALK1 specifically induces expression of Smad6, Smad7, Id1, Id2, endoglin, STAT1, and interleukin 1 receptor in endothelial cells. ALK1 expression in inflammatory myofibroblastic tumor of the urinary bladder have also has been reported (2).

Gene Aliases:

ACVRL1, ACVRLK1, ALK1, HHT, HHT2, ORW2, SKR3, ALK1, TSR-I

Genbank Number:

NM_000020

References:

1.Ota, T. et al: Targets of transcriptional regulation by two distinct type I receptors for transforming growth factor-beta in human umbilical vein endothelial cells. J. Cell Physiol. 2002;193(3):299-318.

2.Tsuzuki, T. et al: ALK1 expression in inflammatory myofibroblastic tumor of the urinary bladder. Am. J. Surg. Pathol. 2004; 28(12):1609-14.