ACVRL1

Entrez Summary: 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].
UniProt Summary: 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. {ECO:0000269|PubMed:22718755, ECO:0000269|PubMed:22799562, ECO:0000269|PubMed:26176610}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

activin receptor activity, type I
endocardial cushion to mesenchymal transition
BMP receptor activity
transforming growth factor beta receptor activity, type I
blood vessel endothelial cell proliferation involved in sprouting angiogenesis
activin receptor complex
lymphatic endothelial cell differentiation
transmembrane receptor protein serine/threonine kinase activity
dorsal aorta morphogenesis
blood vessel maturation
negative regulation of endothelial cell differentiation
dorsal aorta development
wound healing, spreading of epidermal cells
endothelial tube morphogenesis
lymphangiogenesis
morphogenesis of an endothelium
activin binding
lymph vessel morphogenesis
venous blood vessel development
transforming growth factor beta-activated receptor activity
positive regulation of endothelial cell differentiation
retina vasculature development in camera-type eye
negative regulation of focal adhesion assembly
negative regulation of adherens junction organization
positive regulation of chondrocyte differentiation
lymph vessel development
transforming growth factor beta binding
endothelial cell proliferation
negative regulation of cell junction assembly
wound healing, spreading of cells
epiboly involved in wound healing
activin receptor signaling pathway
epiboly
cardiac epithelial to mesenchymal transition
aorta morphogenesis
positive regulation of BMP signaling pathway
negative regulation of blood vessel endothelial cell migration
growth factor binding
blood vessel remodeling
positive regulation of cartilage development