Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | ACVRL1 |
| Gene Name: | ACVRL1 |
| Protein Full Name: | Serine/threonine-protein kinase receptor R3 |
| Alias: | Activin A receptor type II-like 1; Activin receptor-like kinase 1; ACVL1; ACVRL1; ACVRLK1; ALK-1; EC 2.7.11.30; HHT; HHT2; Kinase ALK1; ORW2; SKR3; TGF-B superfamily receptor type I; TSR-I |
| Mass (Da): | 56124 |
| Number AA: | 503 |
| UniProt ID: | P37023 |
| Locus ID: | 94 |
| COSMIC ID: | ACVRL1 |
| Gene location on chromosome: | 12q13.13 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 512 |
| Percent of cancer specimens with mutations: | 0.390625 |
| Normal role description: | ACVRL1 is a protein-serine/threonine kinase. Mutations in this gene can cause hereditary hemorrhagic telangiectasia type 2 (HHT2) and Osler-Rendu-Weber syndrome 2 (ORW2). As a receptor for TGF-beta, certain mutations in ACVRL1, in thoeory, may favour cell-growth via increased activation (or possibly consituitive activity) -- a gain of function, though the opposite -- loss of function -- is also possible. |
| Commentary on involvement of protein in cancer: | 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. Receptor for TGF-beta. May bind activin as well. |