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TCIRG1 Antibody

  • 中文名稱:
    TCIRG1兔多克隆抗體
  • 貨號:
    CSB-PA023312GA01HU
  • 規格:
    ¥3,900
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
  • 別名:
    a3 antibody; Atp 6i antibody; Atp6i antibody; ATP6N1C antibody; ATP6V0A3 antibody; ATPase H+ transporting 116kD antibody; OC 116 antibody; OC 116 kDa antibody; OC 116kDa antibody; OC-116 kDa antibody; OC116 antibody; OPTB 1 antibody; OPTB1 antibody; Osteoclastic proton pump 116 kDa subunit antibody; Specific 116 kDa vacuolar proton pump subunit antibody; Stv 1 antibody; Stv1 antibody; T cell immune regulator 1 antibody; T cell immune regulator 1 ATPase H+ transporting lysosomal V0 subunit A antibody; T cell immune regulator 1 ATPase H+ transporting lysosomal V0 subunit A3 antibody; T cell immune response cDNA 7 antibody; T cell immune response cDNA7 protein antibody; T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a antibody; T-cell immune regulator 1 antibody; T-cell immune response cDNA7 protein antibody; TCIRG 1 antibody; TCIRG1 antibody; TIRC 7 antibody; TIRC7 antibody; V ATPase 116 kDa antibody; V ATPase 116 kDa isoform a3 antibody; V type proton ATPase 116 kDa subunit a antibody; V-ATPase 116 kDa isoform a3 antibody; V-type proton ATPase 116 kDa subunit a isoform 3 antibody; Vacuolar proton translocating ATPase 116 kDa subunit A antibody; Vacuolar proton translocating ATPase 116 kDa subunit a isoform 3 antibody; Vph 1 antibody; Vph1 antibody; VPP3_HUMAN antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human,Mouse,Rat
  • 免疫原:
    Human TCIRG1
  • 免疫原種屬:
    Homo sapiens (Human)
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen Affinity Purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA,WB
  • Protocols:
  • 儲存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    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.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

  • 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:
    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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  • 相關疾病:
    Osteopetrosis, autosomal recessive 1 (OPTB1)
  • 亞細胞定位:
    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.
  • 數據庫鏈接:

    HGNC: 11647

    OMIM: 259700

    KEGG: hsa:10312

    STRING: 9606.ENSP00000265686

    UniGene: Hs.495985



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