Property Summary

NCBI Gene PubMed Count 132
Grant Count 165
R01 Count 65
Funding $23,127,742.71
PubMed Score 878.76
PubTator Score 256.64

Knowledge Summary

Patent (38,459)

Expression

Synonym

Accession P37023 A6NGA8 SKR3
Symbols HHT
ALK1
HHT2
ORW2
SKR3
ALK-1
TSR-I
ACVRLK1

Gene

PDB

4FAO   2LCR   3MY0  

MLP Assay (2)

AID Type Active / Inconclusive / Inactive Description
1982 other 0 / 0 / 0 Kinase inhibition selectivity assay for compound SID-48409448
686923 other 8 / 0 / 2 In vitrocounter assay of key BMP4 Inhibitors

Gene RIF (110)

PMID Text
26821948 Report interaction between ALK1 signaling and connexin40 in the development of arteriovenous malformations.
26720610 Short hairpin-mediated downregulation of either ALK5 or ALK1 resulted in a strong inhibition of TGFbeta-induced chondrogenesis.
26677222 Data suggest ALK1 and ACVR2A/ACVR2B, acting as BMP9 co-receptors, rearrange pro-domains of BMP9--pro-domain dimer complex leading to displacement of pro-domains after receptor binding, release of mature non-dimer BPM9, and activation of signaling.
26176610 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.
25970827 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.
25847705 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.
25799559 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
25466244 P7170 inhibited the phosphorylation of AKT1.
25279424 endoglin and ALK1 have been identified as potential therapeutic targets for antibody treatment in various cancers.
24936649 Mutations in ACVRL1 gene is not associated with pulmonary arterial hypertension.
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AA Sequence

MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCG      1 - 70
NLHRELCRGRPTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGL     71 - 140
WHVRRRQEKQRGLHSELGESSLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVARQVALVECVGK    141 - 210
GRYGEVWRGLWHGESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYH    211 - 280
EHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQCCIADLG    281 - 350
LAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWAFGLVLWEIARRTIVNGIVED    351 - 420
YRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARLTALRIKKTLQ    421 - 490
KISNSPEKPKVIQ                                                             491 - 503
//

Text Mined References (131)

PMID Year Title
26821948 2016 Interaction Between ALK1 Signaling and Connexin40 in the Development of Arteriovenous Malformations.
26720610 2015 Activin Receptor-Like Kinase Receptors ALK5 and ALK1 Are Both Required for TGF?-Induced Chondrogenic Differentiation of Human Bone Marrow-Derived Mesenchymal Stem Cells.
26677222 2016 Rapid Activation of Bone Morphogenic Protein 9 by Receptor-mediated Displacement of Pro-domains.
26176610 2015 Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.
25970827 2016 Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.
25847705 2015 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.
25799559 2015 Serum induces transcription of Hey1 and Hey2 genes by Alk1 but not Notch signaling in endothelial cells.
25466244 2014 P7170, a novel inhibitor of mTORC1/mTORC2 and Activin receptor-like Kinase 1 (ALK1) inhibits the growth of non small cell lung cancer.
25279424 2014 TGF-? & BMP receptors endoglin and ALK1: overview of their functional role and status as antiangiogenic targets.
24936649 2014 Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.
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