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

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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HGNC: 11647

OMIM: 259700

KEGG: hsa:10312

STRING: 9606.ENSP00000265686

UniGene: Hs.495985