ACVRL1 is a receptor in the TGF beta signaling pathway. It is also known as activin receptor-like kinase 1, or ALK1. This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands.

2024年12月24日 · ACVRL1 (Activin A Receptor Like Type 1) is a Protein Coding gene. Diseases associated with ACVRL1 include Telangiectasia, Hereditary Hemorrhagic, Type 2 and Hereditary Hemorrhagic Telangiectasia. Among its related pathways are Akt …

Alk1，又称ACVRL1，属于 TGF-β受体家族，其作为新近报道的抗血管生成靶点受到研究者关注。 尽管Alk1在多种信号通路中的调控机制尚未全面阐明，但陆续的研究揭示了ACVRL1（Alk1）在多种实体瘤和血管生成中发挥重要作用。 目前，针对ACVRL1的靶向策略已经在探索中，且靶向ACVRL1在改善相关疾病症状方面展示出研究潜力。 因此，ACVRL1（Alk1）作为全新的抗血管生成药物靶点，未来有望成为多种研究领域的有效靶点，为多种疾病的药物研究带来新的可能性 …

2025年2月8日 · A novel intron mutation in ACVRL1 gene is associated with familial hereditary hemorrhagic telangiectasia. The balance in signalling through either ALK-1 or ALK-5 regulates leptin expression in mesenchymal stem cells. ACVRL1 gene expression is significantly corellated with advanced tumor stages and it is a useful marker for prognosis.

The ACVRL1 gene provides instructions for making a protein called activin receptor-like kinase 1. This protein is found on the surface of cells, especially in the lining of developing arteries. The ACVRL1 protein is a receptor. It acts as a "lock" waiting for a specific protein, called its ligand, to serve as the "key."

2024年12月10日 · 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.

预计该基因编码的蛋白可启动多种功能，包括 ATP 绑定活动；激活素结合活性；和跨膜受体蛋白丝氨酸/苏氨酸激酶活性。 参与对缺氧的反应。 位于细胞表面；树突;和神经细胞体。 肺动脉高压和短暂性脑缺血的生物标志物。 该基因的人类直系同源物与遗传性出血性毛细血管扩张症和肺动脉高压有关。 与人类 ACVRL1（1 型激活素 A 受体）同源。 [由基因组资源联盟提供，2022 年 4 月]

HGNC Approved Gene Symbol: ACVRL1. Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38) : 12:51,906,944-51,923,361 (from NCBI) Activin A receptor, type II-like 1 (also called activin receptor-like kinase-1), is a type I cell-surface receptor for the TGF-beta superfamily of ligands (see TGFB1; 190180).

ALK-1, also known as ACVRL1, is a type I receptor for TGF-β superfamily with 2 ligands, BMP9 and BMP10. ALK-1 is predominantly expressed in endothelial cells and plays a critical role in regulating angiogenesis. ALK-1 is able to bind to TGF-β1 or activins in the presence of either TβR-II or activin type II receptors, respectively.

该基因编码 TGF-β 配体超家族的 I 型细胞表面受体。 它与其他 I 型受体在丝氨酸-苏氨酸激酶子结构域、激酶结构域之前的富含甘氨酸和丝氨酸的区域 (称为 GS 结构域) 以及短的 C 末端尾巴方面具有高度相似性。 编码的蛋白质，有时称为 ALK1，与其他密切相关的 ALK 或激活素受体样激酶蛋白质共享相似的域结构，形成受体丝氨酸/苏氨酸激酶的亚家族。 该基因的突变与 2 型出血性毛细血管扩张症有关，也称为 Rendu-Osler-Weber 综合征 2。 [RefSeq 提供，2008 年 7 月] This …