The Binding Activity of Human ACVRL1 with Anti-ACVRL1 recombinant antibody Activity: Measured by its binding ability in a functional ELISA. Immobilized Human ACVRL1(CSB-BP001262HU1) at 2 μg/mL can bind Anti-ACVRL1 recombinant antibody, the EC50 is 2.417-2.971ng/mL.
The Binding Activity of Cynomolgus ACVRL1 with Anti-ACVRL1 recombinant antibody Activity: Measured by its binding ability in a functional ELISA.Immobilized Cynomolgus ACVRL1(CSB-BP5806MOV) at 2 μg/mL can bind Anti-ACVRL1 recombinant antibody. The EC50 is 6.893-8.194 ng/mL.
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For Research Use Only. Not for use in diagnostic or therapeutic procedures.
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.
基因功能參考文獻:
Heterozygous SNP, rs372023206, was found in all tested patients with idiopathic pulmonary hypertension (heterozygosity). PMID: 29350394
ENG, ACVRL1, and SMAD4 mutations result in different phenotypes in hereditary hemorrhagic telangiectasia PMID: 30251589
ENG mutation carriers were more likely than ACVRL1 mutation carriers to have pAVMs (P < 0.001) or multiple lesions (P = 0.03), and to undergo procedural intervention (P = 0.02). The HHT severity score was significantly higher in ENG than in ACVRL1 (P = 0.02). PMID: 29048420
These studies identified pathways mediating LDLR-independent uptake of LDL may provide unique opportunities to block the initiation of LDL accumulation in the vessel wall or augment hepatic LDLR-dependent clearance of LDL. PMID: 27869117
We have identified a novel role for ALK1 in cardiac remodeling PMID: 28820968
The present study showed that deletion-duplication mutations in the BMPR2 or ACVRL1 genes may not be associated with non-regression of Pulmonary arterial hypertension. PMID: 28290170
Study identified 2 non-synonymous missense mutations: c.C652T, p.R218W in ACVRL1, c.C717G, p.D239E in SGCD in Chinese population with total anomalous pulmonary venous return. PMID: 28412737
Mutations in ACVRL1 gene encoding for transforming growth factor (TGF)-[beta] superfamily have been identified in Pulmonary Arterial Hypertension. PMID: 28582316
Treatment-related telangiectasia was noted in 7% of patients, suggesting in vivo inhibition of the ALK-1 pathway. PMID: 26655846
Data indicate that simultaneous targeting of molecules that control distinct phases of angiogenesis, such as ALK1 and VEGFR, is a valid strategy for treatment of metastatic renal cell carcinoma (mRCC). PMID: 27248821
Study showed that rs706819, rs2293094, and rs11169953 polymorphisms in the ACVRL1 gene are associated with higher susceptibility to brain arteriovenous malformations. PMID: 28927913
c.1027C > T(p.Gln343) mutation within the ACVRL1 gene in family with hereditary hemorrhagic telangiectasia PMID: 27381467
Bone morphogenetic protein (BMP)9 and BMP10 are high affinity ligands for activin receptor-like kinase 1 (ALK1). PMID: 27528761
Activin receptor-like kinase (ALK)1 is a transforming growth factor beta (TGF-beta) type I receptor predominantly expressed in actively proliferating endothelial cells (ECs). PMID: 27528762
Two novel missense mutations and two recurrent mutations in the ACVRL1 gene are associated with pulmonary arterial hypertension in in Chinese families. PMID: 27316748
ALK1 expression and microvessel density are increased in oral lichen planus , particularly in atrophic/erosive OLP type. PMID: 26662187
The genetic-interactions among BMPR-2, ALK-1, and 5-HTT polymorphisms, elevated BMP-2 and 5-HT levels and differential gene expression substantiated the strong genetic contribution in high altitude pulmonary edema pathophysiology. PMID: 27196063
Study of four patients with pulmonary arterial hypertension associated with human immunodeficiency virus infection found predisposing mutations in the BMPR2, ACVRL1 and ENG genes. PMID: 26897508
The preponderance of ACVRL1 mutations was due to founder mutations, specifically, c.830C>A (p.Thr277Lys), which was found in 24 families from the same geographical area of Norway. PMID: 25970827
Report interaction between ALK1 signaling and connexin40 in the development of arteriovenous malformations. PMID: 26821948
Short hairpin-mediated downregulation of either ALK5 or ALK1 resulted in a strong inhibition of TGFbeta-induced chondrogenesis. PMID: 26720610
This work was designed to examine the pathogenicity of 23 nucleotide variations in ACVRL1 gene detected in more than 400 Hereditary Hemorrhagic Telangiectasia syndrome patients. PMID: 26176610
The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations. PMID: 25847705
bone morphogenic proteins within the serum of cell culture medium are potent inducers of endothelial Hey1 and Hey2 gene expression within the first few hours after medium change PMID: 25799559
endoglin and ALK1 have been identified as potential therapeutic targets for antibody treatment in various cancers. PMID: 25279424
Mutations in ACVRL1 gene is not associated with pulmonary arterial hypertension. PMID: 24936649
In chronic subdural hematomas, the expression of ALK-1 was slightly increased in the dura and markedly up-regulated in the outer membrane. PMID: 24305026
P7170 inhibited the phosphorylation of AKT1. PMID: 25466244
Endoglin and ACVRL1 contribute to several novel networks, including TGF-beta dependent and independent ones, critical for vascular function and potentially defective in hereditary hemorrhagic telangiectasia. PMID: 24319055
Results do not replicate the association between polymorphism in ACVRL1 protein and BAVM in this Dutch population. PMID: 24323303
Results show that mutations of ACVRL-1 protein is a genetic predisposing factor for HHT associated PH in Chinese patients PMID: 23919827
Consistent with the aberrant upregulation of ACVRL1 and downstream Smad signaling, abrogation of EDD led to deregulated vessel development and endothelial cell motility. PMID: 24189493
shows role of ALK-1 in many process related to cardiovascular homeostasis, and the involvement of this protein in the development of cardiovascular diseases, suggesting the possibility of using the ALK-1/smad-1 pathway as a powerful therapeutic target PMID: 23707512
A novel intron mutation in ACVRL1 gene is associated with familial hereditary hemorrhagic telangiectasia. PMID: 23460919
The balance in signalling through either ALK-1 or ALK-5 regulates leptin expression in mesenchymal stem cells. PMID: 22087763
ACVRL1 gene expression is significantly corellated with advanced tumor stages and it is a useful marker for prognosis. PMID: 23447486
Defective trafficking and retention in the endoplasmic reticulum of mutant ALK1 protein is a possible mechanism of hereditary haemorrhagic telangiectasia type 2 in some patients. PMID: 23124896
ALK1 is upregulated in endothelial cells during vascular injury by a synergistic cooperative mechanism between KLF6 and specificity protein 1. PMID: 23048070
Alk1 interacts with cav-1 in human dermal fibroblasts and Transforming Growth Factor beta enhances this association. PMID: 22277251
Inheritance of ACVRL1 single nucleotide polymorphisms marginally contributed to the risk of cutaneous telangiectasiae. PMID: 22677372
The abnormal expression of ALK1 and TGFbR2 were found to be independent contributors to nasopharyngeal carcinogenesis. PMID: 22391627
Patients with childhood idiopathic pulmonary arterial hypertension or heritable pulmonary arterial hypertension with ALK1 mutation carriers tended to have worse outcomes than mutation noncarriers. PMID: 22632830
The structure reveals that the high specificity of ALK1 for BMP9/10 is determined by a novel orientation of ALK1 with respect to BMP9, which leads to a unique set of receptor-ligand interactions PMID: 22718755
Alk1 extracellular domain binds with high affinity to BMP-9. PMID: 22799562
data suggest that both the VEGF/VEGF receptor and the BMP9/ALK1 pathways are essential for stimulating angiogenesis, and targeting both pathways simultaneously may be an attractive strategy to overcome resistance to antiangiogenesis therapy PMID: 22493445
PTPN14 has a role in angiogenesis and/or arteriovenous fate, acting via EphrinB2 and ACVRL1/activin receptor-like kinase 1 PMID: 22233626
Two angiogenesis-associated transcripts (Egfl7 and Acvrl1) showed lower expression in early-onset PE versus late-onset pre-eclampsia and versus gestational age-matched controls. PMID: 22013081
insight into the potential structure of ALK1(EC) and into the structural effects of type 2 Hereditary Haemorrhagic Telangiectasia associated mutations PMID: 22028876
A novel endoglin mutation (c.1-127C > T); and a novel ACVRL1 mutation (c.252_253insC; p.Val85fsX168). It was shown for the first time that a 5'-UTR mutation can prevent translation of endoglin among hereditary hemorrhagic telangiectasia patients. PMID: 21967607
Studies indicate that mutations in at least five genes are thought to result in hereditary hemorrhagic telangiectasia, but mutations in ENG and ACVRL1/ALK1 cause approximately 85% of cases. PMID: 21546842
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相關疾病:
Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
亞細胞定位:
Cell membrane; Single-pass type I membrane protein.
蛋白家族:
Protein kinase superfamily, TKL Ser/Thr protein kinase family, TGFB receptor subfamily