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  2. 蛋白
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  4. Recombinant Human V-type proton ATPase 116 kDa subunit a isoform 3 (TCIRG1), partial

Recombinant Human V-type proton ATPase 116 kDa subunit a isoform 3 (TCIRG1), partial

  • 中文名稱(chēng)：
    人TCIRG1重組蛋白
  • 貨號(hào)：
    CSB-YP615690HU
  • 規(guī)格：
  • 來(lái)源：
    Yeast
  • 其他：
  • 中文名稱(chēng)：
    人TCIRG1重組蛋白
  • 貨號(hào)：
    CSB-EP615690HU
  • 規(guī)格：
  • 來(lái)源：
    E.coli
  • 其他：
  • 中文名稱(chēng)：
    人TCIRG1重組蛋白
  • 貨號(hào)：
    CSB-EP615690HU-B
  • 規(guī)格：
  • 來(lái)源：
    E.coli
  • 共軛：
    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：
  • 中文名稱(chēng)：
    人TCIRG1重組蛋白
  • 貨號(hào)：
    CSB-BP615690HU
  • 規(guī)格：
  • 來(lái)源：
    Baculovirus
  • 其他：
  • 中文名稱(chēng)：
    人TCIRG1重組蛋白
  • 貨號(hào)：
    CSB-MP615690HU
  • 規(guī)格：
  • 來(lái)源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 別名：
    a3; Atp 6i; Atp6i; ATP6N1C; ATP6V0A3; ATPase H+ transporting 116kD; OC 116; OC 116 kDa; OC 116kDa; OC-116 kDa; OC116; OPTB 1; OPTB1; Osteoclastic proton pump 116 kDa subunit; Specific 116 kDa vacuolar proton pump subunit; Stv 1; Stv1; T cell immune regulator 1; T cell immune regulator 1 ATPase H+ transporting lysosomal V0 subunit A; T cell immune regulator 1 ATPase H+ transporting lysosomal V0 subunit A3; T cell immune response cDNA 7; T cell immune response cDNA7 protein; T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a; T-cell immune regulator 1; T-cell immune response cDNA7 protein; TCIRG 1; TCIRG1; TIRC 7; TIRC7; V ATPase 116 kDa; V ATPase 116 kDa isoform a3; V type proton ATPase 116 kDa subunit a; V-ATPase 116 kDa isoform a3; V-type proton ATPase 116 kDa subunit a isoform 3; Vacuolar proton translocating ATPase 116 kDa subunit A; Vacuolar proton translocating ATPase 116 kDa subunit a isoform 3; Vph 1; Vph1; VPP3_HUMAN
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長(zhǎng)度：
    Partial
  • 蛋白標(biāo)簽：
    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.
  • 產(chǎn)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.
  • 復(fù)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.
  • 儲(chǔ)存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)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.
  • 貨期：
    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.
  • 注意事項(xiàng)：
    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.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    Part of the proton channel of V-ATPases. Seems to be directly involved in T-cell activation.
  • 基因功能參考文獻(xiàn)：
    1. In this study, whole exome sequencing (WES) was successfully used in six patients with malignant infantile osteopetrosis (MIOP) and identified mutations in four MIOP-related genes (CLCN7, TCIRG1, SNX10, and TNFRSF11A). PMID: 27187610
    2. Case Reports: TCIRG1-dependent osteopetrosis with a mild clinical course in Chinese patients. PMID: 28816234
    3. TIRC7 is involved in inflammation in multiple sclerosis and anti-TIRC7 mAb can prevent immune activation via selective inhibition of Th1- and Th17-associated cytokine expression. PMID: 24526664
    4. Since a3 subunit of V-ATPase complex plays a crucial role in bone resorption process, structurally abnormal a3 subunit might have adversely affected bone resorption process, leading to infantile osteopetrosis in Pakistani family. PMID: 29237407
    5. TCIRG1 may be involved in endolysosomal transport-a process known to be important to development of early onset AD. PMID: 28738127
    6. TCIRG1 gene mutation in a Chinese family is associated with infantile malignant osteopetrosis. PMID: 28604959
    7. Nine rare missense variants at evolutionarily conserved sites in TCIRG1 are associated with lower absolute neutrophil count. PMID: 27229898
    8. The highly invasive human breast cancer cell lines express higher levels of the a3 isoform than poorly invasive lines; knockdown of a3 reduces both expression of V-ATPases at the plasma membrane and in vitro invasion of breast tumor cells. (Review) PMID: 26906430
    9. an intronic region in TCIRG1 that seems to be particularly prone to splicing mutations, allowing the production of a small amount of protein sufficient to reduce the severity of the phenotype usually associated with TCIRG1 defects. PMID: 25829125
    10. TIRC7 might be involved in the pathogenesis of aplastic anemia. PMID: 26049920
    11. An A to T transversion in the fourth base of the intron 2 donor splice site (c.117+4A-->T) in TCIRG1 in the Ashkenazi Jewish (AJ) population was found to be responsible for osteopetrosis. PMID: 24989235
    12. TIRC7 might be associated with the pathogenesis of ITP, and TIRC7 levels could be used as an indicator to evaluate patients' response to HD-DXM treatment. PMID: 24617318
    13. Increased expression of TIRC7 in plasma was associated with the severity of acute graft-versus-host disease. PMID: 25623380
    14. Data indicate that the effects of epiregulin (EREG) and V-ATPase (TCIRG1) single nucleotide polymorphism (SNP) on pulmonary tuberculosis susceptibility, to the extent that they exist, are dependent on gene-gene interactions in West African populations. PMID: 24898387
    15. TCIRG1-associated congenital neutropenia. PMID: 24753205
    16. analysis demonstrates that CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization, and that there is a need to modify the current classification of osteopetrosis PMID: 24108692
    17. The function of vacuolar ATPase (V-ATPase) a subunit isoforms in invasiveness of MCF10a and MCF10CA1a human breast cancer cells. PMID: 24072707
    18. Our data highlights the importance of two large genomic deletions and mutations in the 5' UTR with respect to patient management and, more critically, to prenatal diagnosis PMID: 22231430
    19. The N termini of a-subunit isoforms are involved in signaling between vacuolar H+-ATPase (V-ATPase) and cytohesin-2 PMID: 23288846
    20. The novel mutation c.242delC of TCIRG1 in infantile malignant osteopetrosis PMID: 21042819
    21. V-ATPase localization and activity in kidney cells is regulated via direct PKA-dependent phosphorylation of the A subunit at Ser-175 PMID: 20525692
    22. That the CLCN7 mutations provoke a phenotype as severe as the one caused by TCIRG1 loss of function suggests the affected residues to be crucial for the function of the ClC-7 chloride channel or chloride/proton-exchanger PMID: 20424301
    23. localization to chromosome 11q12-13 in autosomal dominant osteopetrosis type I PMID: 12054167
    24. Sibling pair linkage and association studies between peak bone mineral density and the gene locus for the osteoclast-specific subunit (OC116) of the vacuolar proton pump on chromosome 11p12-13. PMID: 12161516
    25. Four novel single nucleotide mutations in the TCIRG1 gene encoding the 116-kDa osteoclast specific subunit of ATP6I affecting splice acceptor or donor sites result in aberrant transcription products. PMID: 12552563
    26. There is an association between a polymorphism affecting an API binding site in the promoter of the TCIRG1 gene and bone mass in Scottish women. PMID: 14523594
    27. 9 new TCIRG1 mutations were found in recessive osteopetrosis pts. 30% of the pts had c.1674-1G>A (aberrant splicing: r.1674_1884del) or c.2005C>T (protein variation: p.Arg669X). 40% were splicing regulatory sequence substitutions. PMID: 15300850
    28. we validated by RT-PCR six new alternative splice events in TCIRG1 in most of the 28 human tissues studied PMID: 15809087
    29. TIRC7 acts as an upstream regulatory molecule of cytotoxic T-lymphocyte antigen 4 (CTLA-4) expression. PMID: 17082597
    30. HLA-DR alpha 2 domain (sHLA-DRalpha2) induces negative signals by engaging TIRC7 on lymphocytes, inhibiting proliferation and inducing apoptosis in CD4+ and CD8+ T-cells via activation of the intrinsic pathway PMID: 18270567
    31. analysis of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients PMID: 18715141
    32. Linkage disequilibrium (LD) mapping of the OPTB locus at the TCIRG1 region and found a unique splice site mutation c.807+5G>A in all Chuvashian OPTB patients studied. PMID: 19172990
    33. Mutations in TCIRG1, OSTM1, ClCN7, and TNFRSF11A genes were detected in nine, three, one, and one patientswith infantile malignant osteopetrosis, respectively. PMID: 19507210

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  • 相關(guān)疾病：
    Osteopetrosis, autosomal recessive 1 (OPTB1)
  • 亞細(xì)胞定位：
    Membrane; Multi-pass membrane protein.
  • 蛋白家族：
    V-ATPase 116 kDa subunit family
  • 組織特異性：
    Isoform long is highly expressed in osteoclastomas. Isoform short is highly expressed in thymus.
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 11647

    OMIM: 259700

    KEGG: hsa:10312

    STRING: 9606.ENSP00000265686

    UniGene: Hs.495985



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