Property Summary

NCBI Gene PubMed Count 54
PubMed Score 86.20
PubTator Score 122.42

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
lung carcinoma -1.600 3.6e-29

Protein-protein Interaction (5)

Gene RIF (32)

PMID Text
26906430 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)
26049920 TIRC7 might be involved in the pathogenesis of aplastic anemia.
25829125 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.
25623380 Increased expression of TIRC7 in plasma was associated with the severity of acute graft-versus-host disease.
24989235 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.
24898387 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.
24753205 TCIRG1-associated congenital neutropenia.
24617318 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.
24108692 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
24072707 The function of vacuolar ATPase (V-ATPase) a subunit isoforms in invasiveness of MCF10a and MCF10CA1a human breast cancer cells.
23288846 The N termini of a-subunit isoforms are involved in signaling between vacuolar H+-ATPase (V-ATPase) and cytohesin-2
22231430 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
21042819 The novel mutation c.242delC of TCIRG1 in infantile malignant osteopetrosis
20877624 Observational study of gene-disease association. (HuGE Navigator)
20525692 V-ATPase localization and activity in kidney cells is regulated via direct PKA-dependent phosphorylation of the A subunit at Ser-175
20424301 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
19507210 Mutations in TCIRG1, OSTM1, ClCN7, and TNFRSF11A genes were detected in nine, three, one, and one patientswith infantile malignant osteopetrosis, respectively.
19453261 Observational study of gene-disease association. (HuGE Navigator)
19371798 Observational study of gene-disease association. (HuGE Navigator)
19172990 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.
19172990 Observational study of gene-disease association. (HuGE Navigator)
18715141 analysis of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients
18270567 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
17082597 TIRC7 acts as an upstream regulatory molecule of cytotoxic T-lymphocyte antigen 4 (CTLA-4) expression.
15809087 we validated by RT-PCR six new alternative splice events in TCIRG1 in most of the 28 human tissues studied
15300850 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.
14584882 Observational study of gene-disease association. (HuGE Navigator)
14523594 Observational study of gene-disease association. (HuGE Navigator)
14523594 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.
12552563 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.
12161516 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.
12054167 localization to chromosome 11q12-13 in autosomal dominant osteopetrosis type I

AA Sequence

MGSMFRSEEVALVQLFLPTAAAYTCVSRLGELGLVEFRDLNASVSAFQRRFVVDVRRCEELEKTFTFLQE      1 - 70
EVRRAGLVLPPPKGRLPAPPPRDLLRIQEETERLAQELRDVRGNQQALRAQLHQLQLHAAVLRQGHEPQL     71 - 140
AAAHTDGASERTPLLQAPGGPHQDLRVNFVAGAVEPHKAPALERLLWRACRGFLIASFRELEQPLEHPVT    141 - 210
GEPATWMTFLISYWGEQIGQKIRKITDCFHCHVFPFLQQEEARLGALQQLQQQSQELQEVLGETERFLSQ    211 - 280
VLGRVLQLLPPGQVQVHKMKAVYLALNQCSVSTTHKCLIAEAWCSVRDLPALQEALRDSSMEEGVSAVAH    281 - 350
RIPCRDMPPTLIRTNRFTASFQGIVDAYGVGRYQEVNPAPYTIITFPFLFAVMFGDVGHGLLMFLFALAM    351 - 420
VLAENRPAVKAAQNEIWQTFFRGRYLLLLMGLFSIYTGFIYNECFSRATSIFPSGWSVAAMANQSGWSDA    421 - 490
FLAQHTMLTLDPNVTGVFLGPYPFGIDPIWSLAANHLSFLNSFKMKMSVILGVVHMAFGVVLGVFNHVHF    491 - 560
GQRHRLLLETLPELTFLLGLFGYLVFLVIYKWLCVWAARAASAPSILIHFINMFLFSHSPSNRLLYPRQE    561 - 630
VVQATLVVLALAMVPILLLGTPLHLLHRHRRRLRRRPADRQEENKAGLLDLPDASVNGWSSDEEKAGGLD    631 - 700
DEEEAELVPSEVLMHQAIHTIEFCLGCVSNTASYLRLWALSLAHAQLSEVLWAMVMRIGLGLGREVGVAA    701 - 770
VVLVPIFAAFAVMTVAILLVMEGLSAFLHALRLHWVEFQNKFYSGTGYKLSPFTFAATDD              771 - 830
//

Text Mined References (55)

PMID Year Title
26906430 2016 Regulation of V-ATPase assembly and function of V-ATPases in tumor cell invasiveness.
26049920 2015 Antithymocyte globulin combined with cyclosporine A down-regulates T helper 1 cells by modulating T cell immune response cDNA 7 in aplastic anemia.
25829125 2015 Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
25623380 2015 Increased expression of T cell immune response cDNA 7 in patients with acute graft-versus-host disease.
24989235 2015 A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.
24898387 2014 Epiregulin (EREG) and human V-ATPase (TCIRG1): genetic variation, ethnicity and pulmonary tuberculosis susceptibility in Guinea-Bissau and The Gambia.
24753205 2014 TCIRG1-associated congenital neutropenia.
24617318 2014 Elevated levels of T-cell immune response cDNA 7 in patients with immune thrombocytopenia.
24108692 2014 CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
24072707 2013 The function of vacuolar ATPase (V-ATPase) a subunit isoforms in invasiveness of MCF10a and MCF10CA1a human breast cancer cells.
23288846 2013 The N termini of a-subunit isoforms are involved in signaling between vacuolar H+-ATPase (V-ATPase) and cytohesin-2.
22231430 2012 Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.
21042819 2011 Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20525692 2010 PKA regulates vacuolar H+-ATPase localization and activity via direct phosphorylation of the a subunit in kidney cells.
20424301 2010 Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.
19507210 2009 A single-center experience in 20 patients with infantile malignant osteopetrosis.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19371798 2009 The -9247 T/C polymorphism in the SOST upstream regulatory region that potentially affects C/EBPalpha and FOXA1 binding is associated with osteoporosis.
19172990 2009 Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.
18715141 2009 Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients.
18270567 2008 HLA-DR alpha 2 mediates negative signalling via binding to Tirc7 leading to anti-inflammatory and apoptotic effects in lymphocytes in vitro and in vivo.
17897319 2007 Integral and associated lysosomal membrane proteins.
17662945 2007 Coupling of rotation and catalysis in F(1)-ATPase revealed by single-molecule imaging and manipulation.
17082597 2006 TIRC7 inhibits T cell proliferation by modulation of CTLA-4 expression.
15809087 2005 Identification of new alternative splice events in the TCIRG1 gene in different human tissues.
15800125 2005 Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15300850 2004 TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14597263 2003 Neurotransmitter release: the dark side of the vacuolar-H+ATPase.
14584882 2003 Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
14580332 2003 Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes.
14523594 2004 Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women.
12813892 2003 Specificity of alternative splice form detection using RT-PCR with a primer spanning the exon junction.
12788495 2003 Proton translocation driven by ATP hydrolysis in V-ATPases.
12566520 2003 A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.
12552563 2003 Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12161516 2002 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.
12054167 2002 Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13.
11836511 2002 The vacuolar (H+)-ATPases--nature's most versatile proton pumps.
11532986 2001 The mutational spectrum of human malignant autosomal recessive osteopetrosis.
10942435 2000 Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis.
10888887 2000 Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.
10440860 1999 Animal plasma membrane energization by proton-motive V-ATPases.
10340843 1999 Introduction: V-ATPases 1992-1998.
10329006 1999 Genomic organization of the gene coding for TIRC7, a novel membrane protein essential for T cell activation.
10224039 1999 Structure and properties of the vacuolar (H+)-ATPases.
10221984 1999 Vacuolar and plasma membrane proton-adenosinetriphosphatases.
9806637 1998 Prevention of acute allograft rejection by antibody targeting of TIRC7, a novel T cell membrane protein.
9442887 1997 Structure, function and regulation of the vacuolar (H+)-ATPase.
9210392 1997 The vacuolar H+-ATPase: a universal proton pump of eukaryotes.
8579597 1996 Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit.
2874839 1986 Receptor-mediated endocytosis: the intracellular journey of transferrin and its receptor.