Recombinant Human ALK3 (Q233D) Protein

Beta LifeScience SKU/CAT #: BL-0343SG

Recombinant Human ALK3 (Q233D) Protein

Beta LifeScience SKU/CAT #: BL-0343SG
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Product Overview

Tag GST
Host Species Human
Accession NM_004329
Synonym ALK3; BMPR1A; 10q23del; ACVRLK3; CD292; SKR5
Background BMPR1A (also known as bone morphogenetic protein receptor 1A) is a member of the transmembrane serine/threonine kinase family that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. BMPR1A act as a minor susceptibility gene for PTEN-mutation-negative Cowden syndrome. BMPR1A regulates the PTEN protein levels by decreasing PTEN's association with the degradative pathway (1). BMPR1A trafficking plays a significant role in FOP pathogenesis and is also involved in human T-cell differentiation (2).
Description Recombinant human ALK3 (Q233D) (187-end) was produced by baculovirus in Sf9 insect cells, fused with a GST tag at N-terminus. This protein is purified with our unique purification methods.
Source Sf9 insect cells
AA Sequence 187a.a.-end
Molecular Weight 66 kDa
Purity For specific purity information on a given lot, see related COA.
Endotoxin < 1.0 EU per μg of the protein as determined by the LAL method
Bioactivity Active
Formulation Recombinant protein is supplied in 50mM Tris-HCl, pH 7.5, 50mM NaCl, 10mM Glutathione, 0.25mM DTT, 0.1mM EDTA, 0.1mM PMSF and 25% glycerol.
Stability The recombinant protein is stable for up to 12 months at -70°C
Usage For Research Use Only
Storage Recombinant Human ALK3 (Q233D) Protein should be stored should be stored at < -70°C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.

Target Details

Target 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 BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction. Mediates induction of adipogenesis by GDF6.
Subcellular Location Cell membrane; Single-pass type I membrane protein. Cell surface.
Protein Families Protein kinase superfamily, TKL Ser/Thr protein kinase family, TGFB receptor subfamily
Database References

HGNC: 1076

OMIM: 174900

KEGG: hsa:657

STRING: 9606.ENSP00000224764

UniGene: PMID: 29458345

  • BMPR1A mutation in superior coloboma PMID: 29522511
  • Knockdown of BMPR1a of breast cancer cells suppresses their production of RANKL via p38 pathway and inhibits cancer-induced osteoclastogenesis. PMID: 29495003
  • BMPR1A and the ubiquitous isoform of BMPR1B differed in mode of translocation into the endoplasmic reticulum; and (ii) BMPR1A was N-glycosylated while BMPR1B was not, resulting in greater efficiency of processing and plasma membrane expression of BMPR1A. PMID: 28357470
  • Several germline variants in Hamartomatous Polyposis Syndrome genes were detected, among them three in ENG, two in BMPR1A, one in PTEN, and one in SMAD4. Although some of the detected variants have been reported previously none could be definitely pathogenic or likely pathogenic. PMID: 27146957
  • The present study suggests that HNF-4alpha has a suppressive effect on hepcidin expression by inactivating the BMP pathway, specifically via BMPR1A, in HepG2 cells. PMID: 27660075
  • Data show that protein kinase LKB1 physically interacts with BMP type I receptors and requires Smad7 protein to promote downregulation of the receptor. PMID: 26701726
  • BMPR1A(+) ASCs show an enhanced ability for adipogenesis in vitro, as shown by gene expression and histological staining. PMID: 26585335
  • Duplication of 10q22.3-q23.3 encompassing BMPR1A gene is associated with congenital heart disease, microcephaly, and mild intellectual disability PMID: 26383923
  • Authors analyzed human databases from TCGA and survival data from microarrays to confirm BMPR1a tumor promoting functions, and found that high BMPR1a gene expression correlates with decreased survival regardless of molecular breast cancer subtype. PMID: 26274893
  • About half of BMPR1A-related polyps displayed loss of heterozygosity, predominantly in the epithelial compartment, compatible with BMPR1A acting as a tumour suppressor gene. PMID: 26171675
  • Results support a novel role for miR-885-3p in tumor angiogenesis by targeting BMPR1A, which regulates a proangiogenic factor. PMID: 24882581
  • Decreased expression of BMPR1A was associated malignant gallbladder lesions. PMID: 23531103
  • The mRNA/protein expressions of BMPR1alpha was higher in the stenotic colon segment tissue than in the normal colon segment tissue of Hirschsrung disease patients. PMID: 24966941
  • High BMPR1A expression is associated with glioma tumorigenesis. PMID: 24480809
  • Data show that USP15 enhances BMP-induced phosphorylation of SMAD1 by interacting with and deubiquitylating ALK3. PMID: 24850914
  • This is the first case report to document coding exon 3 duplication in the BMPR1A gene in a patient with juvenile polyposis syndrome. PMID: 25129392
  • results provide evidence that HFE induces hepcidin expression via the BMP pathway: HFE interacts with ALK3 to stabilize ALK3 protein and increase ALK3 expression at the cell surface. PMID: 24904118
  • BMP15 down-regulates StAR expression and decreases progesterone production in human granulosa cells, likely via ALK3-mediated SMAD1/5/8 signaling. PMID: 24140593
  • BMPR1a and BMPR2 are downregulated in cardiac remodeling and heart failure PMID: 24398041
  • Bone morphogenetic protein receptor type 1A missense mutations occurring in patients with juvenile polyposis affected cellular localization in an in vitro model. PMID: 23433720
  • findings show that a reduction in the expression of BMPRIA is associated with a poorer prognosis in pancreatic cancer PMID: 23969729
  • BMP receptor antagonists and silencing of BMP type I receptors with siRNA induced cell death, inhibited cell growth, and caused a significant decrease in the expression of inhibitor of differentiation (Id1, Id2, and Id3) family members. PMID: 23593444
  • Seventy-seven patients (13%) were found to have colorectal polyposis-associated mutations, including 20 in BMPR1A (3.3%) PMID: 23399955
  • Results suggest that rs7922846 BMPR1A polymorphism may account for subtle variation in kidney size at birth, reflecting congenital nephron endowment. PMID: 22886282
  • lack of associations between LVM, values of blood pressure, and the BMP4, BMPR1A, BMPR1B, and ACVR1 genotypes PMID: 22971142
  • These data support the role of BMPR-1A as an indicator ofosteoarthritis progression in human knees with circumscribed cartilage lesions. PMID: 22519633
  • Crystals of GDF5 and BMP receptor IA complex belonged to a monoclinic space group: either I2, with unit-cell parameters a = 63.81, b = 62.85, c = 124.99 A, beta = 95.9 degrees , or C2, with unit-cell parameters a = 132.17, b = 62.78, c = 63.53 A, beta = 112.8 degrees PMID: 21543859
  • generation of TGF-beta and BMP receptor homo- and hetero-oligomers and its roles as a mechanism capable of fast regulation of signaling by these crucial cytokines [review] PMID: 22293501
  • analysis of promiscuity and specificity in BMP receptor activation [review] PMID: 22710174
  • Sp1 was found to be a candidate factor that likely plays a role in the transcriptional regulation of BMPR1A. PMID: 21872883
  • Letter: Report the phenotypic spectrum of BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency. PMID: 21640116
  • Data show that blocking both endogenous BMPR1A and BMPR1B almost offset the effect of BMP7 on the proliferation of NCI-H460 cell completely. PMID: 20673479
  • Juvenile polyps with a SMAD4 germline mutation were predominantly type B, whereas type A was more common among juvenile polyps with a BMPR1A germline mutation. PMID: 21412070
  • identified the promoter for BMPR1A, in which mutations may be responsible for as many as 10% of juvenile polyposis cases with unknown mutations PMID: 20843829
  • BMPR1A were detected in the human retina and retinoblastoma cell lines. PMID: 21152263
  • Crystals BMP receptor type IA bound to the antibody Fab fragment belonged to the monoclinic space group P2(1), with unit-cell parameters a=89.32, b=129.25, c=100.24 A, beta=92.27 degrees PMID: 20693682
  • we describe the significance of a bone morphogenetic protein receptor type 1A gene mutation in an Irish family with hereditary mixed polyposis syndrome. PMID: 19438883
  • Germline BMPR1A defect is the disease-causing mutation in 50% of the HMPS families. PMID: 19773747
  • BMPR1A can act as a minor susceptibility gene for PTEN mutation negative Cowden syndrome PMID: 12620973
  • BMPR-IA may interact with and modulate the activity of a developmentally relevant splicing factor PMID: 15351706
  • A defect in BMPRIA internalization and increased activation of downstream signaling, suggesting that altered BMP receptor trafficking underlies ectopic bone formation in fibrodysplasia ossificans progressiva. PMID: 15940369
  • BMPR1A is a promising marker for evaluating ganglion cells in the enteric nervous system. PMID: 16226113
  • Human granulosa-like tumor cell line KGN expressed BMP type I (BMPR1A and BMPR1B) and type II receptors (BMPR2) and the BMP signaling molecules SMADs (SMAD1 and SMAD5). PMID: 16436528
  • BMPR1A mutation accounts for hereditary mixed polyposis syndrome and inactivating this gene can initiate colorectal tumourigenesis PMID: 16525031
  • Cooperation between this gene and PTEN gene is deleted on chromoome 10 in juvenile polyposis coli. PMID: 17101085
  • SF3b4, known to be localized in the nucleus and involved in RNA splicing, binds BMPR-IA and specifically inhibits BMP-mediated osteochondral cell differentiation PMID: 17513295
  • Linkage analysis suggested a cryptic BMPR1A mutation or the presence of another gene in close proximity to the BMPR1A locus. PMID: 17573831
  • 5 nonsense, 2 frameshift, 4 missense and 2 splice site mutations were associated with juvenile polyposis syndrome. A 65-BP deletion in intron 4 included -2 of the splice acceptor side of exon 5. PMID: 17873119
  • Large genomic deletions of SMAD4, BMPR1A and PTEN are a common cause of JPS. PMID: 18178612
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