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T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3

Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ClC-7, CAN, ATPase, ACID, AGE
Papers on A-3
A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.
Wang et al., Guangzhou, China. In Gene, Feb 2016
The CLCN7 and TCIRG1 genes are the major obligate genes responsible for infantile malignant osteopetrosis (IMO).
SILAC-based quantitative proteomics identified lysosome as a fast response target to PDT agent Gd-N induced oxidative stress in human ovarian cancer IGROV1 cells.
Lu et al., Shenzhen, China. In Mol Biosyst, Nov 2015
Interestingly, lysosome was discovered as the main organelle affected by Gd-N induced singlet oxygen, along with the down regulation of a majority of lysosomal acid hydrolases and proton pump complex ATP6V/TCIRG1.
Targeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional Osteoclasts.
Ficara et al., Milano, Italy. In Stem Cell Reports, Nov 2015
Autosomal recessive osteopetrosis is a human bone disease mainly caused by TCIRG1 gene mutations that prevent osteoclasts resorbing activity, recapitulated by the oc/oc mouse model.
Decreased level of cytotoxic T lymphocyte antigen-4 (CTLA-4) in patients with acute immune thrombocytopenia (ITP).
Xu et al., Xuzhou, China. In Thromb Res, Oct 2015
INTRODUCTION: Previously, we demonstrated the importance of T-cell immune response cDNA 7 (TIRC7) in acute immune thrombocytopenia (ITP).
Panax notoginseng saponins suppress radiation-induced osteoporosis by regulating bone formation and resorption.
Liming et al., Hangzhou, China. In Phytomedicine, Sep 2015
In contrast, LPNS decreased the numbers of osteoclast precursor cells (CD117(+)/RANKL(+) cells and CD71(+)/CD115(+) cells) and the mRNA levels of TRAP and ATP6i.
Antithymocyte globulin combined with cyclosporine A down-regulates T helper 1 cells by modulating T cell immune response cDNA 7 in aplastic anemia.
Xu et al., Xuzhou, China. In Med Oncol, Jul 2015
T cell immune response cDNA 7 (TIRC7) has been demonstrated its essential role in T cell activation; however, little is known about the role of TIRC7 in AA.
[Preimplantation genetic diagnosis of infantile malignant osteopetrosis in a Chinese family].
Zhou et al., Guangzhou, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, Jun 2015
METHODS: For a family affected with IMO, PGD was provided using combined parental mutation detection and haplotype constructions with microsatellite markers spanning the TCIRG1 gene.
Malignant infantile osteopetrosis: case report with review of literature.
Mouane et al., Rabat, Morocco. In Pan Afr Med J, 2013
Diagnosis was confirmed by genetic testing that showed two heterozygote mutations within the TCIRG1 gene.
Osteopetrosis: genetics, treatment and new insights into osteoclast function.
Helfrich et al., Rozzano, Italy. In Nat Rev Endocrinol, 2013
The genetic basis of this disease is now largely uncovered: mutations in TCIRG1, CLCN7, OSTM1, SNX10 and PLEKHM1 lead to osteoclast-rich ARO (in which osteoclasts are abundant but have severely impaired resorptive function), whereas mutations in TNFSF11 and TNFRSF11A lead to osteoclast-poor ARO.
Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: a case report and review of the literature.
Fink et al., Melbourne, Australia. In Eur J Med Genet, 2013
Sequencing of the genes known to cause severe recessive osteopetrosis, TCIRG1, CLCN7, OSTM1 and SNX10, was negative.
Monocytes differentiation upon treatment with a peptide corresponding to the C-terminus of activated T cell-expressed Tirc7 protein.
Scimeca et al., Nice, France. In J Cell Physiol, 2012
we report for the first time on biological effects mediated by a peptide corresponding to the C-terminus of Tirc7 protein, which interfere with monocytic differentiation pathways.
Murine ameloblasts are immunonegative for Tcirg1, the v-H-ATPase subunit essential for the osteoclast plasma proton pump.
Everts et al., Amsterdam, Netherlands. In Bone, 2012
Tcirg1, which is essential for osteoclasts to pump protons into the bone, is not appreciably expressed in maturation stage mouse ameloblasts.
J3 regulation of flowering time is mainly contributed by its activity in leaves.
Yu et al., Singapore, Singapore. In Plant Signal Behav, 2011
Data suggest that J3 activity in leaves mainly contributes to its role in regulating flowering time
Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients.
Wang et al., Guangzhou, China. In J Bone Miner Metab, 2011
The novel mutation c.242delC of TCIRG1 in infantile malignant osteopetrosis
The J-domain protein J3 mediates the integration of flowering signals in Arabidopsis.
Yu et al., Singapore, Singapore. In Plant Cell, 2011
Loss of function of J3 delays flowering time in Arabidopsis, and regulates the expression of SOC1 and FT.
Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor.
Sobacchi et al., Segrate, Italy. In Calcif Tissue Int, 2009
Historically, osteopetrosis due to both these mechanisms was found in spontaneous and artificially created mouse mutants, but the first five genes identified in human ARO (CA-II, TCIRG1, ClCN7, OSTM1, and PLEKHM1) were all involved in the effector function of mature osteoclasts, being linked to acidification of the cell/bone interface or to intracellular processing of the resorbed material.
Rare gross deletion in T-cell immune regulator-1 gene in Iranian family with infantile malignant osteopetrosis.
Velayati et al., Mashhad, Iran. In Saudi Med J, 2008
Mutations in the T-cell immune regulator 1 (TCIRG1) gene were found as the cause of arOP.
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.
Villa et al., Segrate, Italy. In Nat Genet, 2000
Here we show that TCIRG1, encoding the osteoclast-specific 116-kD subunit of the vacuolar proton pump, is mutated in five of nine patients with a diagnosis of infantile malignant osteopetrosis.
Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification.
Stashenko et al., Boston, United States. In Nat Genet, 1999
We previously cloned a gene (Atp6i, for V-proton pump, H+ transporting (vacuolar proton pump) member I) encoding a putative osteoclast-specific proton pump subunit, termed OC-116kD (ref.
Prevention of acute allograft rejection by antibody targeting of TIRC7, a novel T cell membrane protein.
Gullans et al., Berlin, Germany. In Immunity, 1998
A novel 75 kDa membrane protein, TIRC7, is described that exhibits a central role in T cell activation in vitro and in vivo.
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