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  4. Recombinant Human Bone morphogenetic protein receptor type-1A (BMPR1A)

Recombinant Human Bone morphogenetic protein receptor type-1A (BMPR1A)

  • 货号：
    CSB-CF002748HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
  • Uniprot No.：
  • 别名：
    10q23del; Activin A receptor type II like kinase 3; Activin receptor like kinase 3; Activin receptor-like kinase 3; ACVRLK 3; ACVRLK3; ALK 3; ALK-3; ALK3; BMP type-1A receptor; BMPR 1A; Bmpr; BMPR-1A; Bmpr1a; BMR1A_HUMAN; Bone morphogenetic protein receptor type IA; Bone morphogenetic protein receptor type IA precursor; Bone morphogenetic protein receptor type-1A; BR 1a; BR1a; CD 292; CD292; CD292 antigen; EC 2.7.11.30; Serine threonine protein kinase receptor R5; Serine threonine protein kinase receptor R5 precursor; Serine/threonine-protein kinase receptor R5; SKR 5; SKR5; zBMPR IA; zBMPRIA
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    24-532
  • 氨基酸序列
    QNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNGHCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQLRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISMAVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQVGKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDFLKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNTRVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLRPIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    10xHis-SUMO-tag
  • 产品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    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.
  • 基因功能参考文献：
    1. Single nucleotide polymorphisms of the BMPR-1A gene were significantly associated with the development of ossification of the posterior longitudinal ligament of the cervical spine. PMID: 29458345
    2. BMPR1A mutation in superior coloboma PMID: 29522511
    3. Knockdown of BMPR1a of breast cancer cells suppresses their production of RANKL via p38 pathway and inhibits cancer-induced osteoclastogenesis. PMID: 29495003
    4. 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
    5. 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
    6. 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
    7. 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
    8. BMPR1A(+) ASCs show an enhanced ability for adipogenesis in vitro, as shown by gene expression and histological staining. PMID: 26585335
    9. Duplication of 10q22.3-q23.3 encompassing BMPR1A gene is associated with congenital heart disease, microcephaly, and mild intellectual disability PMID: 26383923
    10. s 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
    11. 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
    12. Results support a novel role for miR-885-3p in tumor angiogenesis by targeting BMPR1A, which regulates a proangiogenic factor. PMID: 24882581
    13. Decreased expression of BMPR1A was associated malignant gallbladder lesions. PMID: 23531103
    14. 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
    15. High BMPR1A expression is associated with glioma tumorigenesis. PMID: 24480809
    16. Data show that USP15 enhances BMP-induced phosphorylation of SMAD1 by interacting with and deubiquitylating ALK3. PMID: 24850914
    17. 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
    18. 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
    19. BMP15 down-regulates StAR expression and decreases progesterone production in human granulosa cells, likely via ALK3-mediated SMAD1/5/8 signaling. PMID: 24140593
    20. BMPR1a and BMPR2 are downregulated in cardiac remodeling and heart failure PMID: 24398041
    21. Bone morphogenetic protein receptor type 1A missense mutations occurring in patients with juvenile polyposis affected cellular localization in an in vitro model. PMID: 23433720
    22. findings show that a reduction in the expression of BMPRIA is associated with a poorer prognosis in pancreatic cancer PMID: 23969729
    23. 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
    24. Seventy-seven patients (13%) were found to have colorectal polyposis-associated mutations, including 20 in BMPR1A (3.3%) PMID: 23399955
    25. Results suggest that rs7922846 BMPR1A polymorphism may account for subtle variation in kidney size at birth, reflecting congenital nephron endowment. PMID: 22886282
    26. lack of associations between LVM, values of blood pressure, and the BMP4, BMPR1A, BMPR1B, and ACVR1 genotypes PMID: 22971142
    27. These data support the role of BMPR-1A as an indicator ofosteoarthritis progression in human knees with circumscribed cartilage lesions. PMID: 22519633
    28. 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
    29. 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
    30. analysis of promiscuity and specificity in BMP receptor activation [review] PMID: 22710174
    31. Sp1 was found to be a candidate factor that likely plays a role in the transcriptional regulation of BMPR1A. PMID: 21872883
    32. Letter: Report the phenotypic spectrum of BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency. PMID: 21640116
    33. 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
    34. 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
    35. 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
    36. BMPR1A were detected in the human retina and retinoblastoma cell lines. PMID: 21152263
    37. 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
    38. 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
    39. Germline BMPR1A defect is the disease-causing mutation in 50% of the HMPS families. PMID: 19773747
    40. BMPR1A can act as a minor susceptibility gene for PTEN mutation negative Cowden syndrome PMID: 12620973
    41. BMPR-IA may interact with and modulate the activity of a developmentally relevant splicing factor PMID: 15351706
    42. 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
    43. BMPR1A is a promising marker for evaluating ganglion cells in the enteric nervous system. PMID: 16226113
    44. 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
    45. BMPR1A mutation accounts for hereditary mixed polyposis syndrome and inactivating this gene can initiate colorectal tumourigenesis PMID: 16525031
    46. Cooperation between this gene and PTEN gene is deleted on chromoome 10 in juvenile polyposis coli. PMID: 17101085
    47. 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
    48. Linkage analysis suggested a cryptic BMPR1A mutation or the presence of another gene in close proximity to the BMPR1A locus. PMID: 17573831
    49. 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
    50. Large genomic deletions of SMAD4, BMPR1A and PTEN are a common cause of JPS. PMID: 18178612

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  • 相关疾病：
    Juvenile polyposis syndrome (JPS); Polyposis syndrome, mixed hereditary 2 (HMPS2)
  • 亚细胞定位：
    Cell membrane; Single-pass type I membrane protein. Cell surface.
  • 蛋白家族：
    Protein kinase superfamily, TKL Ser/Thr protein kinase family, TGFB receptor subfamily
  • 组织特异性：
    Highly expressed in skeletal muscle.
  • 数据库链接：

    HGNC: 1076

    OMIM: 174900

    KEGG: hsa:657

    STRING: 9606.ENSP00000224764

    UniGene: Hs.524477