ACVR1 Antibody

Datasheet
Code CSB-PA281732
Size US$299
Image
  • The image on the left is immunohistochemistry of paraffin-embedded Human gastic cancer tissue using CSB-PA281732(ACVR1 Antibody) at dilution 1/60, on the right is treated with fusion protein. (Original magnification: ×200)
  • The image on the left is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using CSB-PA281732(ACVR1 Antibody) at dilution 1/60, on the right is treated with fusion protein. (Original magnification: ×200)
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Product Details

Uniprot No. Q04771
Target Names ACVR1
Alternative Names Activin A receptor type I antibody; Activin A receptor type II like kinase 2 antibody; Activin receptor type I antibody; Activin receptor type-1 antibody; Activin receptor-like kinase 2 antibody; ACTR-I antibody; ACTRI antibody; Acvr1 antibody; ACVR1_HUMAN antibody; ACVR1A antibody; ACVRLK2 antibody; ALK 2 antibody; ALK-2 antibody; ALK2 antibody; FOP antibody; Hydroxyalkyl protein kinase antibody; Serine/threonine-protein kinase receptor R1 antibody; SKR1 antibody; TGF-B superfamily receptor type I antibody; TGFB superfamily receptor type I antibody; TSR-I antibody; TSRI antibody
Raised in Rabbit
Species Reactivity Human,Mouse,Rat
Immunogen Fusion protein of Human ACVR1
Immunogen Species Homo sapiens (Human)
Conjugate Non-conjugated
Isotype IgG
Purification Method Antigen affinity purification
Concentration It differs from different batches. Please contact us to confirm it.
Buffer -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
Form Liquid
Tested Applications ELISA,IHC
Recommended Dilution
Application Recommended Dilution
ELISA 1:1000-1:5000
IHC 1:50-1:200
Protocols ELISA Protocol
Immunohistochemistry (IHC) Protocol
Troubleshooting and FAQs Antibody FAQs
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Target Data

Function 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 activin. May be involved for left-right pattern formation during embryogenesis (By similarity).
Gene References into Functions
  1. Identification of small molecule inhibitors of ALK2: a virtual screening, density functional theory, and molecular dynamics simulations study. PMID: 30159679
  2. Results showed that ACVR1 was a direct target of miR-384 and was involved in the inhibitory effects of miR-384 on breast cancer progression. Furthermore, the study indicated that ACVR1 activated the Wnt/beta-catenin signaling pathway in breast cancer. PMID: 29693185
  3. Study emphasizes about the role of ACVR1 which encoding a receptor for BMP proteins in fibrodysplasia ossificans progressiva (FOP). Most FOP patients carry the recurrent R206H substitution in the GS domain, whereas a few other mutations are responsible for limited cases. Mutations cause a dysregulation of the downstream BMP-dependent pathway making mutated ACVR1 responsive to a non-canonical ligand, Activin A. [review] PMID: 29587443
  4. The role of an ALK2 mutation (R258S) in IRIDA development in a patient also bearing compound heterozygous mutations in TMPRSS6 was demonstrated by reconstructing in vitro the proband's genotype, expressing mutants TMPRSS6 and ACVR1 in the presence of hemojuvelin and assessing hepcidin activation. ALK2(R258S) maintained high hepcidin expression in the presence of MT2(I212T). PMID: 28476747
  5. activation of AMPK upregulated Smad6 and Smurf1 and thereby enhanced their interactions, resulting in its proteosome-dependent degradation of ALK2. PMID: 28847510
  6. the Fibrodysplasia Ossificans Progressiva mutation ACVR1(R206H) is more sensitive to a number of natural ligands. PMID: 27713089
  7. both bone morphogenetic protein 2 (BMP2) and BMP6 are proangiogenic in vitro and ex vivo and that the BMP type I receptors, activin receptor-like kinase 3 (ALK3) and ALK2, play crucial and distinct roles in this process. PMID: 28733457
  8. Fibrodysplasia ossificans progressiva (FOP) syndrome is caused by mutation of the gene ACVR1. Developed is a simplified one-step procedure by simultaneously introducing reprogramming and gene-editing components into human fibroblasts derived from patient with FOP. The one-step-mediated ALK2 gene-corrected induced pluripotent stem cells restored global gene expression pattern. PMID: 27256111
  9. The ACVR1 R206H mutation may not directly increase the formation of mature chondrogenic or osteogenic cells. PMID: 27530160
  10. Authors demonstrated that the BMP type I receptor ALK-2 (encoded by the ACVR1 gene) has crucial roles in apoptosis induction of patient-derived glioma-initiating cells (GICs), TGS-01 and TGS-04. PMID: 28459464
  11. Data suggest BMP9/GDF2 and BMP10 synergize with TNFA to increase monocyte recruitment to vascular endothelial cells; process appears to be mediated mainly via ALK2/ACVR1 (which exhibits protein kinase activity). These studies used in vitro flow monocyte adhesion assay. (BMP9 = growth differentiation factor 2; BMP10 = bone morphogenetic protein 10; TNFA = tumor necrosis factor alpha; ALK2/ACVR1 = activin A receptor type 1) PMID: 28646109
  12. The effects of ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva are extended to the central nervous system. Brainstem hamartomatous lesions and dysmorphisms, variably associated with dentate nucleus and basal ganglia signal abnormalities and/or calcifications, may represent useful disease hallmarks. PMID: 27565519
  13. Low ALK2 expression is associated with invasiveness of breast cancer. PMID: 28075462
  14. Further investigation on clinical ESCC samples and non-tumorous adjacent tissue found that tumors with triple-positive BMP6, ALK2 and BMPRII had deeper growth than tumors with only BMP6 expression PMID: 27959431
  15. The clinical manifestations, the disease course, and the molecular findings of involvement of ACVR1 gene in this family are suggestive of "FOP variant" or an unusual ACVR1-related skeletal dysplasia PMID: 27182040
  16. Activin-A is increased in the airway of asthmatics and peaks during asthma exacerbations.Activin-A signalling pathways are dysregulated in severe asthma. PMID: 26869672
  17. Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders. PMID: 26776312
  18. The higher PE activin A concentrations resulted in abnormal endothelial functions, which may contribute to the systemic maternal vascular endothelial cell dysfunction observed in the disorder. PMID: 26597752
  19. A report of two patients has been presented with multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva caused by the ACVR1 c.772G>A; R258G mutation. PMID: 26097044
  20. Fibrodysplasia ossificans progressiva-ACVR1 abnormally transduces bone morphogenetic protein signaling in response to Activin-A. PMID: 26621707
  21. Changes in the binding site residue(e.g. pre-hinge region in ALK2) or side chain orientation (e.g. Tyr219 in caALK2 vs. wtALK2), or ligand modification (e.g. DMH1 vs. LDN193189) causes distinct binding profiles and selectivity among BMP inhibitors. PMID: 26133550
  22. heterozygous mutation i.e., c.617(G>A)in ACVR1 was detected in patients with rare genetic disorder - Fibrodysplasia ossificans progressiva PMID: 23918320
  23. miR-148a is an important mediator of ACVR1, thus offering a new potential target for the development of therapeutic agents against Fibrodysplasia ossificans progressiva. PMID: 22408438
  24. Genetic analysis of ACVR1 identified the recurrent allelic variant c.617 G>A; p.R206H in 12 of 14 Fibrodysplasia Ossificans Progressiva (FOP)patients. One of the remaining patients had a previously reported allele c.1067G>A; p.G356D in the 9th exon and the second allele c.983G>A; p.G328E in the 8th exon of ACVR1. PMID: 26058333
  25. clinically aggressive stem cell-like subtype of hepatocellular carcinoma characterized by miR-148a-ACVR1-BMP-Wnt circuit PMID: 25271001
  26. compounds demonstrated consistent binding to a panel of mutant and wild-type ALK2 proteins PMID: 25101911
  27. ALK2 (R206H) mutation increases osteoclast formation through TGF-beta. The activation of activin-like kinase signaling enhanced osteoclast formation through TGF-beta expression during heterotopic ossification in muscle tissues. PMID: 24798338
  28. The findings provide novel insights into the molecular mechanisms that regulate expression of the ACVR1 gene and that could be targets of new strategies for future therapeutic treatments. PMID: 24047559
  29. Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma. PMID: 24705250
  30. Recurrent somatic mutations in ACVR1 found in diffuse intrinsic pontine gliomas. PMID: 24705251
  31. Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma. PMID: 24705252
  32. ACVR1 mutations in diffuse intrinsic pontine gliomas were constitutively activating, leading to SMAD phosphorylation and increased expression of the downstream activin signaling targets ID1 and ID2. PMID: 24705254
  33. Glucocorticoids recruit Tgfbr3 and Smad1 to shift transforming growth factor-beta signaling from the Tgfbr1/Smad2/3 axis to the Acvrl1/Smad1 axis in lung fibroblasts. PMID: 24347165
  34. Presence of the 455C allele of BMP4 and the 8474T allele of ACVR1 gene was significantly associated with decreased left ventricular ejection fraction (LVEF) (p=0.0004 and p=0.046, respectively). PMID: 22971142
  35. ALK2 may be an important receptor in ET-1 production during BMPR2 knockdown PMID: 23142694
  36. Functional analysis of the 3'UTR region by Luciferase reporter assays showed that it plays an inhibitory role on ACVR1/Alk-2 gene expression. PMID: 23227223
  37. Fibrodysplasia ossificans progressiva has been linked to an autosomal dominant mutation on chromosome 2, to the gene encoding activin receptor-like kinase 2 (ALK2), a BMP type I receptor PMID: 22630080
  38. Disease causing mutations in the ACVR1 gene identified in Turkish patients diagnosed as fibrodysplasia ossificans progressiva. PMID: 23260810
  39. Constitutive activation of ALK2 such as that caused by the Fibrodysplasia Ossificans Progressiva mutation inhibits the generation and maintenance of human induced pluripotent stem cells. PMID: 22949078
  40. Luminal iron levels govern intestinal tumorigenesis after Apc loss in vivo. PMID: 22884369
  41. Study suggests that activin A contributes to the malignant phenotype of malignant pleural mesothelioma (MPM) cells via regulation of cyclin D and may represent a valuable candidate for therapeutic interference. PMID: 23169291
  42. miR-30c expression was increased during adipogenesis of multipotent adipose-derived stem cells; miRNA target prediction revealed 2 putative direct targets of miR-30c, PAI-1 and ALK2, both inversely regulated to miR-30c during adipogenesis and responsive to miR-30c overexpression PMID: 21878751
  43. The crystal structure of the cytoplasmic domain of ALK2 in complex with the inhibitors FKBP12 and dorsomorphin. PMID: 22977237
  44. Confirmation of the presence of this recurrent mutation facilitates diagnostic accuracy in affected persons in South Africa, and allows researchers to narrow the search for molecular targets for rational intervention to the ACVR1/ALK2 domain. PMID: 22748444
  45. copy number alterations at 2q24 can be involved in ACVR1 overexpression, which is associated with longer overall survival in laryngeal carcinomas PMID: 21668474
  46. Low activin A in the cytosol is associated with upper urinary tract urothelial carcinoma. PMID: 21617230
  47. These data indicate that in the context of a Down's syndrome background, ALK2-mediated reduction of BMP signaling may contribute to congenital heart defects. PMID: 21248739
  48. These findings suggest that ALK2(L196P) is an activated BMP receptor equivalent to ALK2(R206H) and that ALK2(L196P) activity may be suppressed in vivo by a novel molecular mechanism in fibrodysplasia ossificans progressiva patients with this mutation. PMID: 21377447
  49. in two cases of fibrodysplasia ossificans progressiva, heterozygous missense mutation 617G>A (R206H) was found PMID: 20736820
  50. Progressive heterotopic ossification along with congenital malformation of the great toes, the two major clinical features that define classic FOP, led to a suspicion of FOP and to the definitive screening of the ACVR1 gene PMID: 20577760
  51. ACVR1 is associated with acute lung injury in mice PMID: 21297076
  52. The R206H mutation in ALK2 confers constitutive activity to the mutant receptor, sensitizes mesenchymal cells to BMP-induced osteoblast differentiation, and stimulates new bone formation. PMID: 19929436
  53. The impact of ACVR1 R206H mutation on BMP signaling and its downstream signaling cascades in murine myogenic C2C12 cells and HEK 293 cells, was studied. PMID: 20463014
  54. a variant of fibrodysplasia ossificans progressiva phenotypes are associated with specific mutations in ACVR1 gene PMID: 19796185
  55. Endoglin is phosphorylated on cytosolic domain threonine residues by the TGF-beta type I receptors ALK2 in prostate cancer cells. In the presence of constitutively active ALK2, endoglin did not inhibit cell migration PMID: 19736306
  56. Of 51 microsatellite stable colon tumors, 7 (14%) lost ACVR2, 2 (4%) ACVR1, and 5 (10%) pSMAD2 expression. PMID: 20011542
  57. The discovery of the FOP metamorphogene reveals a highly conserved target for drug development and identifies a fundamental defect in the BMP signaling pathway that when triggered by injury and inflammation transforms one tissue into another. PMID: 19896889
  58. distribution in gestational tissues across human pregnancy and during labour PMID: 11969340
  59. We mapped fibrodysplasia ossificans progressiva to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G --> A; R206H) in the glycine-serine (GS) activation domain of ACVR1 PMID: 16642017
  60. Study examined 3 Japanese patients with Fibrodysplasia ossificans progressiva for ACVR1 mutations and identified the 617G>A mutation in all 3 patients; results suggest that the mutation in the ACVR1 gene is common and recurrent in the global population. PMID: 17351709
  61. knockdown of ALK2, but not TGFbetaRI (ALK5), abrogated endoglin-mediated decreases in cell motility and constitutively active ALK2 was sufficient to restore a low-motility phenotype in endoglin deficient cells PMID: 17496924
  62. In both the wild-type ACVR1 model and template crystal structures (TbetaRI), the conserved arginine appears to form a salt bridge with an invariant aspartate residue. PMID: 17572636
  63. Various mutations may occur in myositis ossificans nuclear families. PMID: 18019378
  64. Together, these findings show that TGFbeta superfamily activation of Smad2/3 is required for repression of spontaneous differentiation under strain. PMID: 18234825
  65. there was significant down-regulation of ALK-2 expression in asthma patients at baseline; allergy challenge was associated with upregulation PMID: 18292470
  66. ALK2(R206H) with Smad1 or Smad5 induced osteoblastic differentiation that could be inhibited by Smad7 or dorsomorphin. PMID: 18684712
  67. The novel amino-acid substitution is predicted to influence either the conformation/stability of the GS region or the binding affinity with FKBP12, resulting in a less stringent inhibitory control on the ACVR1 kinase activity. PMID: 18830232
  68. ALK2 signalling contributes to the disturbed folliculogenesis in polycystic ovary syndrome (PCOS) patients. PMID: 18854405
  69. ALK2(G356D) activities found in Japanese fibrodysplasia ossificans progressiva patient were weaker than those of ALK2(R206H), and they were suppressed by a specific inhibitor of the BMP-regulated Smad pathway. PMID: 18952055
  70. The serum activin A level, increased in AMI, was positively correlated with peak CK and CK-MB levels which are measures of infarction size. PMID: 19028479
  71. Study showed that all patients examined have heterozygous ACVR1 missense mutations in conserved amino acids. PMID: 19085907
  72. activin inhibits the growth of SNU-16 cells by inducing apoptosis through caspase activation. PMID: 19148527
  73. This study aimed to investigate the ACVR1 gene mutation in Chinese FOP patients. Direct sequence analysis of genomic DNA and restriction enzyme digestion demonstrated the presence of a single heterozygous mutation in the ACVR1 gene in both patients. PMID: 19300893
  74. two further unique mutations (c.605G>T and c.983G>A) in this gene in two FOP patients; disparate missense mutations mapped to the GS and kinase domains of the protein supports the disease model of mild kinase activation PMID: 19330033
  75. Data show that co-expressing constitutively active type I and type II receptors resulted in the phosphorylation of both R-Smad subclasses in a ligand-independent manner. PMID: 19335617
  76. NOG & 617G>A activin A type I receptor(ACVRI)mutations in 27 fibrodysplasia ossificans patients; 5 NOG mutations found in 7 patients; 617G>A mutation in ACVR1 gene found in 14 patients; with 1 exception, 617G>A & NOG mutations were mutually exclusive PMID: 19400542
  77. Dominant-negative ALK2 allele associates with congenital heart defects. PMID: 19506109
  78. ACVR1 gene mutations were found heterozygous point mutation of c.617G>A; p.R206H in Myositis Ossificans. PMID: 19543505
  79. BMP9 acts as a proliferative factor for immortalized ovarian surface epithelial cells and ovarian cancer cell lines, signaling predominantly through an ALK2/Smad1/Smad4 pathway, the major BMP9 receptor in endothelial cells. PMID: 19996292

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Involvement in disease Fibrodysplasia ossificans progressiva (FOP)
Subcellular Location Membrane, Single-pass type I membrane protein
Protein Families Protein kinase superfamily, TKL Ser/Thr protein kinase family, TGFB receptor subfamily
Tissue Specificity Expressed in normal parenchymal cells, endothelial cells, fibroblasts and tumor-derived epithelial cells.
Database Links

HGNC: 171

OMIM: 102576

KEGG: hsa:90

STRING: 9606.ENSP00000263640

UniGene: Hs.470316

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