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  4. Recombinant Human SH2 domain-containing protein 1A (SH2D1A)

Recombinant Human SH2 domain-containing protein 1A (SH2D1A)

  • 货号：
    CSB-YP021209HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP021209HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP021209HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP021209HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP021209HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 别名：
    DSHP; Duncan disease SH2 protein; Duncan disease SH2-protein; EBVS; IMD5; LYP; MTCP1; SAP; SAP/SH2D1A; SH2 domain containing 1A; SH2 domain protein 1A; SH2 domain-containing protein 1A; SH21A_HUMAN; SH2D1A; Signaling lymphocyte activation molecule associated protein; Signaling lymphocytic activation molecule-associated protein; SLAM associated protein; SLAM associated protein/SH2 domain protein 1A; SLAM-associated protein; T cell signal transduction molecule SAP; T-cell signal transduction molecule SAP; XLP; XLPD
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-128
  • 氨基酸序列
    MDAVAVYHGK ISRETGEKLL LATGLDGSYL LRDSESVPGV YCLCVLYHGY IYTYRVSQTE TGSWSAETAP GVHKRYFRKI KNLISAFQKP DQGIVIPLQY PVEKKSSARS TQGTTGIRED PDVCLKAP
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    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.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 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：
    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 ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2. However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1. Positively regulates CD244/2B4- and CD84-mediated natural killer (NK) cell functions. Can also promote CD48-, SLAMF6 -, LY9-, and SLAMF7-mediated NK cell activation. In the context of NK cell-mediated cytotoxicity enhances conjugate formation with target cells. May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3.
  • 基因功能参考文献：
    1. miR-126 inhibits the migration of malignant glioma cells by inhibiting MTCP1. PMID: 30233082
    2. these results showed that the NTB-A/SAP pathway regulates T-cell activation and restimulation-induced cell death during human tuberculosis PMID: 28546549
    3. this paper shows that the X-linked lymphoproliferative disease gene product SAP regulates signals induced through the co-receptor SLAM PMID: 28827385
    4. we describe for the first time the clinical manifestations associated with XLP-1 based on the c.278G>A variant in the SH2D1A gene. The patient had a relatively late age of onset and presented mainly with primary HLH associated with EBV infection without a familial history of immunodeficiency. PMID: 28816794
    5. this study shows reduced intracellular SAP expression in iNKT cells and other lymphocytes in the blood from common variable immunodeficiency PMID: 29083052
    6. in X-linked lymphoproliferative disease patients, SAP deficiency reduces CD74 expression, resulting in the perturbation of B cell maintenance from the naive stage PMID: 28904129
    7. study concludes that systemic lupus erythematosus (SLE) T cells display reduced levels of the adaptor protein SAP, probably as a result of continuous T cell activation and degradation by caspase-3. Restoration of SAP levels in SLE T cells corrects the overexcitable lupus T cell phenotype. PMID: 27183584
    8. High LAT1 expression correlated with significantly shorter prostate specific antigen recurrence-free survival in patients receiving androgen deprivation therapy PMID: 26682754
    9. We describe here a novel c.137+5G > A intronic mutation in the SH2D1A gene of the signaling lymphocyte activation molecule (SLAM)-associated protein (SAP) in association with Epstein-Barr virus (EBV)-induced fatal infectious mononucleosis (FIM) in an 8-year-old male patient and his 3-year-old step brother. The mother and the maternal grandmother of the boys are healthy and heterozygous for this sequence variant. PMID: 25491288
    10. no association between genetic polymorphism and X-linked lymphoproliferative disease in pediatric patients in Iran PMID: 25982576
    11. novel missense mutation in Australian patient with cerebral vasculitis in X-linked lymphoproliferative disease PMID: 26433589
    12. In addition to their role in NK cell activation by hematopoietic cells, the SLAM-SAP-SHP1 pathways influence responsiveness toward nonhematopoietic targets by a process akin to NK cell 'education'. PMID: 26878112
    13. The mutation c.131G>A in this patient was found in combination with a second SH2D1A mutation PMID: 24723092
    14. Study of SAP expression is specific but may have insufficient sensitivity for screening XLP1 as a single tool; however, combination with 2B4 functional assay allows identification of all cases PMID: 24985396
    15. Molecular dynamics analysis revealed that mutant R32Q and T53I structures of SAP exhibited structural variation with respect to their backbone atoms before and after binding with the unphosphorylated SLAM peptide. PMID: 24770789
    16. Signaling lymphocytic activation molecule (SLAM)/SLAM-associated protein pathway regulates human B-cell tolerance. PMID: 24373350
    17. In patients suffering from X-linked lymphoproliferative disease (XLP1), SAP is nonfunctional, not only abolishing the activating function of 2B4, but rendering this receptor inhibitory. PMID: 24659462
    18. SAP is a new actor downstream of PECAM-1 and its binding regulates PECAM-1 mediated cell adhesion. PMID: 24388971
    19. An intronic single nucleotide polymorphism of the SH2D1A gene is associated with systemic lupus erythematosus. PMID: 23554038
    20. Frequent mutations in SH2D1A (XLP) in males presenting with high-grade mature B-cell neoplasms. PMID: 23589280
    21. Result suggests that p53 contributes to T cell homeostasis through the induction of the pro-apoptotic SAP. PMID: 23165210
    22. The adaptor protein SAP directly associates with CD3zeta chain and regulates T cell receptor signaling. PMID: 22912825
    23. The -346T polymorphism of the SH2D1A gene is a risk factor for development of autoimmunity/lymphoproliferation in males with defective Fas function. PMID: 22425739
    24. TGF-beta1 may reduce the expression of NKG2D/DAP10 and 2B4/SAPin patients with hepatitis B. PMID: 22438812
    25. Subsequent analysis showed that the deletion in both cousins was identical and involved the whole SH2D1A gene and a part of the adjacent ODZ1 gene. PMID: 22271700
    26. No detrimental mutations were identified in SH2D1A in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. PMID: 21674762
    27. SAP is required for CD8+ T cell-mediated cytotoxicity of antigen-presenting B cells. EBV-specific cells are largely SAP+ while CMV and Ffu-specific cells are SAP+ or SAP-. PMID: 22069374
    28. SAP-mediated inhibition of DGKalpha sustains diacylglycerol signaling, thereby regulating T cell activation PMID: 22048771
    29. Mutations in the gene SH2D1A is associated with X-linked lymphoproliferative syndrome type 1. PMID: 21119115
    30. This review discusses how SAP, through its signaling downstream of multiple members of the signaling lymphocytic activation molecule (SLAM) family of cell surface receptors, plays a crucial role in many aspects of this immune response. PMID: 21091715
    31. The SH2D1A gene mutation is often associated with either decreased or impaired function of the protein product, signaling lymphocytic activation molecule-associated protein. PMID: 20975587
    32. SH2D1A deficiency is associated with X-linked lymphoproliferative disease. PMID: 20926771
    33. Results reveal novel roles for NTB-A and SLAM-associated protein in regulating T cell homeostasis through apoptosis and provide mechanistic insight into the pathogenesis of lymphoproliferative disease in XLP. PMID: 19759517
    34. SH2D1A expression reflects activation of T and NK cells in cord blood lymphocytes infected with EBV and treated with the immunomodulator PSK. PMID: 11803050
    35. dependence of association with 2B4 on phosphoinositide 3-kinase PMID: 11815622
    36. SAP is expressed in activated T and NK cells PMID: 12008045
    37. Review. X-linked lymphoproliferative disease maps to Xq25. The gene (SH2D1A)was identified, the protein crystal structure solved, target molecules identified, protein/protein interactions characterized, & a mouse model of the gene mutation developed. PMID: 12152986
    38. role in signaling through the signaling lymphocyte activation molecule family of immune receptors PMID: 12458214
    39. Data show that the SLAM-associated protein (SAP) SH2 domain binds to the SH3 domain of FynT and directly couples FynT to SLAM. PMID: 12545174
    40. SH2D1A is in 5 EBV-negative classical Hodgkin's disease (HD)-derived cell lines PMID: 12594824
    41. SLAM-associated protein functions as an essential integrator in early TCR signal transduction PMID: 12766168
    42. SAP regulates signal transduction of the SLAM-family receptors by recruiting SRC kinases. PMID: 14523387
    43. Mutations, which either directly interfere with binding of SAP or indirectly affect binding due to improper protein folding, underlie the X-linked lymphoproliferative (XLP) syndrome. PMID: 14674764
    44. Mycobacterium tuberculosis-induced IFN-gamma is abolished in T cells from patients with active tuberculosis expressing SAP. PMID: 14707094
    45. in X-linked lymphoproliferative disease, the lack of SAP affects specific signaling pathways resulting in severe disruption of cytotoxic T-cell function PMID: 14726378
    46. significantly up-regulated on CD4 and CD8 T cells during acute infectious mononucleosis; regulates lymphocyte activation via signals from cell-surface CD244 (2B4) and SLAM (CD150) PMID: 15195244
    47. CD150 and SH2D1A are coexpressed during a narrow window of B-cell maturation and SH2D1A may be involved in regulation of B-cell differentiation via switching of CD150-mediated signaling pathways. PMID: 15315965
    48. The subcellular localization of the signaling lymphocyte activation molecule-associated protein (SAP)/2B4 complex is reported during recognition of susceptible Epstein Barr virus-infected 721.221 cells by human natural killer cells. PMID: 15356108
    49. results suggest that SAP contributes to the execution of some p53 functions PMID: 15378026
    50. activation of peripheral blood cells with agonistic anti-CD3 antibody and exogenous IL-2, as used for generation of cytokine-induced killer cells, results in significant SLAM and SAP activation 5 days after TCR stimulation PMID: 15661039

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  • 相关疾病：
    Lymphoproliferative syndrome, X-linked, 1 (XLP1)
  • 亚细胞定位：
    Cytoplasm.
  • 组织特异性：
    Expressed at a high level in thymus and lung, with a lower level of expression in spleen and liver. Expressed in peripheral blood leukocytes, including T-lymphocytes. Tends to be expressed at lower levels in peripheral blood leukocytes in patients with rh
  • 数据库链接：

    HGNC: 10820

    OMIM: 300490

    KEGG: hsa:4068

    STRING: 9606.ENSP00000360181

    UniGene: Hs.349094