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 0.000

Synonym

Accession Q13488 O75877 Q8WVC5 V-ATPase 116 kDa isoform a3
Symbols a3
Stv1
Vph1
Atp6i
OC116
OPTB1
TIRC7
ATP6N1C
ATP6V0A3
OC-116kDa

Gene

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG
Pig OMA EggNOG Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid
S.cerevisiae OMA Inparanoid

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.
More...

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.
More...