Property Summary

NCBI Gene PubMed Count 45
PubMed Score 656.54
PubTator Score 28.00

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
malignant mesothelioma 1.100 4.8e-05
psoriasis -3.900 1.6e-04
nasopharyngeal carcinoma -1.100 1.2e-09
chronic rhinosinusitis -1.249 2.9e-02

 GWAS Trait (1)

Protein-protein Interaction (4)

Gene RIF (16)

PMID Text
25951193 ITM2A expression is positively regulated by PKA-CREB signaling and ITM2A expression interferes with autophagic flux by interacting with vacuolar ATPase.
25910425 Functional analysis of selected regulated proteins revealed that knockdown of HNRPD, PHB2 and UB2V2 can increase HCMV replication, while knockdown of A4 and KSRP resulted in decreased HCMV replication.
25572248 e have described patients with severe distal renal tubular acidosis and a novel splicing mutation in the ATP6V0A4 gene in a family originating from the Siliana region in northwestern Tunisia
25285676 For the remaining patients, two mutations in the ATP6V0A4 gene, one of them being novel, were found in three Tunisian cases.
24975934 Two from different families carrying ATP6V0A4 mutations manifested early onset moderate mixed HL and moderate SNHL
24252324 Four mutations in the ATP6V0A4 gene were obesrved one single nucleotide deletion in exon 13, the nonsensein exon 3, and the missense changes in exon 17 and in exon 19.
24072707 The function of vacuolar ATPase (V-ATPase) a subunit isoforms in invasiveness of MCF10a and MCF10CA1a human breast cancer cells.
23729491 Mutations of the ATP6V0A4 gene is associated with primary distal renal tubular acidosis.
22854161 Case Report: novel ATP6V0A4 gene mutation confirmed autosomal recessive distal renal tubular acidosis with normal hearing.
22460948 This study demonistrated that expression identifies subtypes of oligodendrogliomas, pilocytic astrocytomas and gangliogliomas and may contribute to refine characterization of these tumors.
22093743 There is the first evidence presented with progressive hearing loss associated with ATP6VOA4 mutation in a chinese patient.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20221774 Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis.
19639346 Mutations in ATP6V0A4 present enlarged vestibular aqueduct and early onset sensorial hearing loss.
19366680 the a4 isoform may be responsible for targeting V-ATPases to the plasma membrane of MB231 cells and that cell surface V-ATPases play a significant role in breast cancer invasion
18632794 stability and function of the metabolon composed of H+ATPase and glycolytic components can be compromised by either loss of required PFK-1 binding (G820R) or loss of pump protein (R807Q)

AA Sequence

MVSVFRSEEMCLSQLFLQVEAAYCCVAELGELGLVQFKDLNMNVNSFQRKFVNEVRRCESLERILRFLED      1 - 70
EMQNEIVVQLLEKSPLTPLPREMITLETVLEKLEGELQEANQNQQALKQSFLELTELKYLLKKTQDFFET     71 - 140
ETNLADDFFTEDTSGLLELKAVPAYMTGKLGFIAGVINRERMASFERLLWRICRGNVYLKFSEMDAPLED    141 - 210
PVTKEEIQKNIFIIFYQGEQLRQKIKKICDGFRATVYPCPEPAVERREMLESVNVRLEDLITVITQTESH    211 - 280
RQRLLQEAAANWHSWLIKVQKMKAVYHILNMCNIDVTQQCVIAEIWFPVADATRIKRALEQGMELSGSSM    281 - 350
APIMTTVQSKTAPPTFNRTNKFTAGFQNIVDAYGVGSYREINPAPYTIITFPFLFAVMFGDCGHGTVMLL    351 - 420
AALWMILNERRLLSQKTDNEIWNTFFHGRYLILLMGIFSIYTGLIYNDCFSKSLNIFGSSWSVQPMFRNG    421 - 490
TWNTHVMEESLYLQLDPAIPGVYFGNPYPFGIDPIWNLASNKLTFLNSYKMKMSVILGIVQMVFGVILSL    491 - 560
FNHIYFRRTLNIILQFIPEMIFILCLFGYLVFMIIFKWCCFDVHVSQHAPSILIHFINMFLFNYSDSSNA    561 - 630
PLYKHQQEVQSFFVVMALISVPWMLLIKPFILRASHRKSQLQASRIQEDATENIEGDSSSPSSRSGQRTS    631 - 700
ADTHGALDDHGEEFNFGDVFVHQAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVMNSGLQTR    701 - 770
GWGGIVGVFIIFAVFAVLTVAILLIMEGLSAFLHALRLHWVEFQNKFYVGDGYKFSPFSFKHILDGTAEE    771 - 840
//

Text Mined References (49)

PMID Year Title
25951193 2015 The integral membrane protein ITM2A, a transcriptional target of PKA-CREB, regulates autophagic flux via interaction with the vacuolar ATPase.
25910425 2015 Subcellular quantitative proteomic analysis reveals host proteins involved in human cytomegalovirus infection.
25572248 2014 A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family.
25285676 2014 Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.
24975934 2014 Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis.
24252324 2013 Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.
24072707 2013 The function of vacuolar ATPase (V-ATPase) a subunit isoforms in invasiveness of MCF10a and MCF10CA1a human breast cancer cells.
23729491 2013 Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.
22854161 2014 Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis.
22460948 2012 The renal v-ATPase a4 subunit is expressed in specific subtypes of human gliomas.
22093743 2012 Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis.
21326311 2011 Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20221774 2010 Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19639346 2009 Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity.
19366680 2009 Function of a subunit isoforms of the V-ATPase in pH homeostasis and in vitro invasion of MDA-MB231 human breast cancer cells.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18632794 2008 Human H+ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1.
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.
17360703 2007 V1 and V0 domains of the human H+-ATPase are linked by an interaction between the G and a subunits.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14675051 2004 Comparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5.
14638902 2003 Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis.
14597263 2003 Neurotransmitter release: the dark side of the vacuolar-H+ATPase.
14580332 2003 Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes.
12853948 2003 The DNA sequence of human chromosome 7.
12788495 2003 Proton translocation driven by ATP hydrolysis in V-ATPases.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12649290 2003 The a-subunit of the V-type H+-ATPase interacts with phosphofructokinase-1 in humans.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12414817 2002 Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
11836511 2002 The vacuolar (H+)-ATPases--nature's most versatile proton pumps.
10973252 2000 Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
10600682 2000 H(+)V-ATPase-dependent luminal acidification in the kidney collecting duct and the epididymis/vas deferens: vesicle recycling and transcytotic pathways.
10577919 1999 Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34.
10440860 1999 Animal plasma membrane energization by proton-motive V-ATPases.
10340843 1999 Introduction: V-ATPases 1992-1998.
10224039 1999 Structure and properties of the vacuolar (H+)-ATPases.
10221984 1999 Vacuolar and plasma membrane proton-adenosinetriphosphatases.
9442887 1997 Structure, function and regulation of the vacuolar (H+)-ATPase.
9210392 1997 The vacuolar H+-ATPase: a universal proton pump of eukaryotes.
2874839 1986 Receptor-mediated endocytosis: the intracellular journey of transferrin and its receptor.