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Aliases for ATP6V1A Gene

Aliases for ATP6V1A Gene

  • ATPase, H+ Transporting, Lysosomal 70kDa, V1 Subunit A 2 3
  • ATP6V1A1 3 4 6
  • Vacuolar Proton Pump Subunit Alpha 3 4
  • Vacuolar ATPase Isoform VA68 3 4
  • V-ATPase Subunit A 3 4
  • EC 4 63
  • ATP6A1 3 4
  • VPP2 3 4
  • HO68 3 6
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Alpha Polypeptide, 70kD, Isoform 1 2
  • Vacuolar ATP Synthase Catalytic Subunit A, Ubiquitous Isoform 3
  • H+-Transporting ATPase Chain A, Vacuolar (VA68 Type) 3
  • ATPase, H+ Transporting, Lysosomal, Subunit A1 3
  • H(+)-Transporting Two-Sector ATPase, Subunit A 3
  • V-Type Proton ATPase Catalytic Subunit A 3
  • Vacuolar Proton Pump Alpha Subunit 1 3
  • V-ATPase 69 KDa Subunit 1 3
  • V-ATPase 69 KDa Subunit 4
  • V-ATPase A Subunit 1 3
  • EC 3.6.3 63
  • VA68 3
  • Vma1 3

External Ids for ATP6V1A Gene

Previous HGNC Symbols for ATP6V1A Gene

  • VPP2
  • ATP6A1
  • ATP6V1A1

Previous GeneCards Identifiers for ATP6V1A Gene

  • GC03P114747
  • GC03P114786
  • GC03P114948
  • GC03P113465
  • GC03P110840

Summaries for ATP6V1A Gene

Entrez Gene Summary for ATP6V1A Gene

  • This gene encodes a component of vacuolar ATPase (V-ATPase), 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, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP6V1A Gene

ATP6V1A (ATPase, H+ Transporting, Lysosomal 70kDa, V1 Subunit A) is a Protein Coding gene. Diseases associated with ATP6V1A include histoplasmosis. Among its related pathways are Signaling by GPCR and Insulin receptor signalling cascade. GO annotations related to this gene include proton-transporting ATPase activity, rotational mechanism.

UniProtKB/Swiss-Prot for ATP6V1A Gene

  • Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells

Tocris Summary for ATP6V1A Gene

  • H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes, endosomes, the Golgi apparatus, chromaffin granules and coated vesicles, as well as in the plasma membrane. H+-ATPase is a multisubunit complex composed of two domains. The V1 domain is responsible for ATP hydrolysis and the V0 domain is responsible for protein translocation. There are two main mechanisms of regulating H+-ATPase activity; recycling of H+-ATPase-containing vesicles to and from the plasma membrane and glucose-sensitive assembly/disassembly of the holoenzyme complex. These transporters play an important role in processes such as receptor-mediated endocytosis, protein degradation and coupled transport. They have a function in bone reabsorption and mutations in the A3 gene cause recessive osteopetrosis. Furthermore, H+-ATPases have been implicated in tumor metastasis and regulation of sperm motility and maturation.

Gene Wiki entry for ATP6V1A Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1A Gene

Genomics for ATP6V1A Gene

Regulatory Elements for ATP6V1A Gene

Genomic Location for ATP6V1A Gene

113,747,019 bp from pter
113,812,058 bp from pter
65,040 bases
Plus strand

Genomic View for ATP6V1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP6V1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V1A Gene

Proteins for ATP6V1A Gene

  • Protein details for ATP6V1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    V-type proton ATPase catalytic subunit A
    Protein Accession:
    Secondary Accessions:
    • B2RBR8
    • B7Z1R5
    • D3DN75
    • Q53YD9
    • Q96DY6
    • Q9UHY3

    Protein attributes for ATP6V1A Gene

    617 amino acids
    Molecular mass:
    68304 Da
    Quaternary structure:
    • V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components: subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component: the proteolipid protein)

    Alternative splice isoforms for ATP6V1A Gene


neXtProt entry for ATP6V1A Gene

Proteomics data for ATP6V1A Gene at MOPED

Post-translational modifications for ATP6V1A Gene

  • Ubiquitination at Lys467 and Lys580
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP6V1A Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ATP6V1A Gene

Gene Families for ATP6V1A Gene

  • VATP :ATPases / V-type

Graphical View of Domain Structure for InterPro Entry



  • P38606
  • Belongs to the ATPase alpha/beta chains family.
genes like me logo Genes that share domains with ATP6V1A: view

Function for ATP6V1A Gene

Molecular function for ATP6V1A Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O + H(+)(In) = ADP + phosphate + H(+)(Out)
UniProtKB/Swiss-Prot Function: Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells

Enzyme Numbers (IUBMB) for ATP6V1A Gene

Gene Ontology (GO) - Molecular Function for ATP6V1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IEA --
genes like me logo Genes that share ontologies with ATP6V1A: view
genes like me logo Genes that share phenotypes with ATP6V1A: view

miRNA for ATP6V1A Gene

miRTarBase miRNAs that target ATP6V1A

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for ATP6V1A Gene

Localization for ATP6V1A Gene

Subcellular locations from

Jensen Localization Image for ATP6V1A Gene COMPARTMENTS Subcellular localization image for ATP6V1A gene
Compartment Confidence
cytosol 4
plasma membrane 4
mitochondrion 2
chloroplast 1
cytoskeleton 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ATP6V1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane ISS --
GO:0005887 integral component of plasma membrane TAS 8463241
genes like me logo Genes that share ontologies with ATP6V1A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ATP6V1A Gene

Pathways for ATP6V1A Gene

genes like me logo Genes that share pathways with ATP6V1A: view

Gene Ontology (GO) - Biological Process for ATP6V1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8463241
GO:0006879 cellular iron ion homeostasis TAS --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0015992 proton transport --
genes like me logo Genes that share ontologies with ATP6V1A: view

Compounds for ATP6V1A Gene

(7) ApexBio Compounds for ATP6V1A Gene

Compound Action Cas Number
Dynasore Non-competitive inhibitor of dynamin 1, dynamin 2 and mitochondrial dynamin (Drp1) GTPase activity. [304448-55-3]
Oligomycin A Inhibitor of mitochondrial ATP synthase and uncoupler of oxidative phosphorylation. [579-13-5]
Omecamtiv mecarbil Cardiac specific myosin activator, targets and activates myocardial ATPase [873697-71-3]
PF-03716556 potent, and selective acid pump antagonist. [928774-43-0]
Sodium Orthovanadate alkaline phosphatase (ALP) and ATPase. [13721-39-6]
TAK-438 novel P-CAB type antisecretory agent [1260141-27-2]
Tipifarnib (Zarnestra) Farnesyltransferase (Ftase) inhibitor [192185-72-1]

(3) Tocris Compounds for ATP6V1A Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor [88899-55-2]
Concanamycin A H+-ATPase (vacuolar) inhibitor [80890-47-7]
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities [97-77-8]

(4) HMDB Compounds for ATP6V1A Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
  • adenosindiphosphorsaeure
  • NFB Orthophosphate
  • Dihydrogen oxide

(5) Drugbank Compounds for ATP6V1A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
  • Acide Alendronique [INN-French]
66376-36-1 target inhibitor
Bafilomycin A1
88899-55-2 target inhibitor
Bafilomycin B1
88899-56-3 target inhibitor
Etidronic acid
  • Acetodiphosphonic acid
7414-83-7 target inhibitor
  • Acide tiludronique [INN-French]
89987-06-4 target inhibitor
genes like me logo Genes that share compounds with ATP6V1A: view

Transcripts for ATP6V1A Gene

Unigene Clusters for ATP6V1A Gene

ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a ·
SP1: - - - - - -
SP2: - -
SP3: -
SP5: - - -
SP6: -

ExUns: 18b

Relevant External Links for ATP6V1A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ATP6V1A Gene

mRNA expression in normal human tissues for ATP6V1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP6V1A Gene

SOURCE GeneReport for Unigene cluster for ATP6V1A Gene Hs.477155

mRNA Expression by UniProt/SwissProt for ATP6V1A Gene

Tissue specificity: Present in all tissues analyzed
genes like me logo Genes that share expressions with ATP6V1A: view

No data available for mRNA differential expression in normal tissues for ATP6V1A Gene

Orthologs for ATP6V1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V1A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ATP6V1A 35
  • 99.41 (n)
  • 99.51 (a)
ATP6V1A 36
  • 100 (a)
(Bos Taurus)
Mammalia ATP6V1A 35
  • 93.84 (n)
  • 98.7 (a)
ATP6V1A 36
  • 99 (a)
(Canis familiaris)
Mammalia ATP6V1A 35
  • 93.84 (n)
  • 98.7 (a)
ATP6V1A 36
  • 99 (a)
(Mus musculus)
Mammalia Atp6v1a 35
  • 89.47 (n)
  • 98.06 (a)
Atp6v1a 16
Atp6v1a 36
  • 98 (a)
(Monodelphis domestica)
Mammalia ATP6V1A 36
  • 93 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 84 (a)
-- 36
  • 96 (a)
(Rattus norvegicus)
Mammalia Atp6v1a 35
  • 89.57 (n)
  • 97.73 (a)
(Gallus gallus)
Aves ATP6V1A 35
  • 80.72 (n)
  • 92.59 (a)
ATP6V1A 36
  • 96 (a)
(Anolis carolinensis)
Reptilia ATP6V1A 36
  • 94 (a)
African clawed frog
(Xenopus laevis)
Amphibia atp6a1-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1a 35
  • 77.26 (n)
  • 94 (a)
LOC394868 35
(Danio rerio)
Actinopterygii atp6v1aa 36
  • 93 (a)
atp6v1ab 35
  • 78.71 (n)
  • 93.19 (a)
atp6v1ab 36
  • 93 (a)
zgc63516 35
fruit fly
(Drosophila melanogaster)
Insecta Vha68-1 35
  • 69.11 (n)
  • 83.06 (a)
Vha68-1 36
  • 83 (a)
Vha68-2 36
  • 83 (a)
Vha68-3 36
  • 60 (a)
(Caenorhabditis elegans)
Secernentea vha-13 35
  • 69.26 (n)
  • 81.59 (a)
vha-13 36
  • 81 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA1 35
  • 60.11 (n)
  • 60.96 (a)
VMA1 36
  • 38 (a)
VMA1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05401g 35
  • 61.01 (n)
  • 64.13 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.563 35
(Glycine max)
eudicotyledons Gma.1434 35
thale cress
(Arabidopsis thaliana)
eudicotyledons VHA-A 35
  • 63.83 (n)
  • 69.89 (a)
(Hordeum vulgare)
Liliopsida Hv.516 35
(Zea mays)
Liliopsida Zm.6945 35
(Oryza sativa)
Liliopsida Os02g0175400 35
  • 65.01 (n)
  • 70.25 (a)
(Triticum aestivum)
Liliopsida Ta.2650 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01207 35
  • 61.64 (n)
  • 66.1 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma1 35
  • 63.61 (n)
  • 68.5 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5381 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 79 (a)
CSA.842 36
  • 80 (a)
Species with no ortholog for ATP6V1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ATP6V1A Gene

Gene Tree for ATP6V1A (if available)
Gene Tree for ATP6V1A (if available)

Paralogs for ATP6V1A Gene

No data available for Paralogs for ATP6V1A Gene

Variants for ATP6V1A Gene

Sequence variations from dbSNP and Humsavar for ATP6V1A Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs12736 -- 113,811,364(+) TCTTC(C/T)ATACA utr-variant-3-prime
rs721170 -- 113,786,590(-) TTCTG(G/T)GGGCA intron-variant
rs1043132 -- 113,809,842(+) CTTTG(G/T)GAAAT utr-variant-3-prime
rs1043135 -- 113,809,933(+) CAAAA(A/C)CATAA utr-variant-3-prime
rs1043189 -- 113,811,885(+) ATTTT(C/T)CCAGT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ATP6V1A Gene

Variant ID Type Subtype PubMed ID
nsv829678 CNV Loss 17160897
nsv877351 CNV Loss 21882294
esv2588841 CNV Deletion 19546169

Relevant External Links for ATP6V1A Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V1A Gene

Disorders for ATP6V1A Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for ATP6V1A Gene including...

Search for ATP6V1A Gene in MalaCards »

(1) University of Copenhagen DISEASES for ATP6V1A Gene

genes like me logo Genes that share disorders with ATP6V1A: view

No data available for UniProtKB/Swiss-Prot for ATP6V1A Gene

Publications for ATP6V1A Gene

  1. Identification of two subunit A isoforms of the vacuolar H(+)-ATPase in human osteoclastoma. (PMID: 8463241) van Hille B. … Bilbe G. (J. Biol. Chem. 1993) 2 3 4
  2. The ubiquitous VA68 isoform of subunit A of the vacuolar H(+)-ATPase is highly expressed in human osteoclasts. (PMID: 7575517) van Hille B. … Bilbe G. (Biochem. Biophys. Res. Commun. 1995) 3 23
  3. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu R.-M. … Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Protein profiling of human pancreatic islets by two-dimensional gel electrophoresis and mass spectrometry. (PMID: 15952740) Ahmed M. … Bergsten P. (J. Proteome Res. 2005) 3

Products for ATP6V1A Gene

Sources for ATP6V1A Gene

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