Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ATP6V1A Gene

Aliases for ATP6V1A Gene

  • ATPase H+ Transporting V1 Subunit A 2 3
  • ATPase, H+ Transporting, Lysosomal 70kDa, V1 Subunit A 2 3 5
  • Vacuolar Proton Pump Subunit Alpha 3 4
  • Vacuolar ATPase Isoform VA68 3 4
  • V-ATPase Subunit A 3 4
  • EC 3.6.3.14 4 63
  • ATP6V1A1 3 4
  • ATP6A1 3 4
  • VPP2 3 4
  • 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
  • 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
  • HO68 3
  • 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 V1 Subunit A) is a Protein Coding gene. Diseases associated with ATP6V1A include Renal Tubular Acidosis, Distal, Autosomal Recessive and Baylisascariasis. Among its related pathways are Synaptic vesicle cycle and Immune System. GO annotations related to this gene include proton-transporting ATPase activity, rotational mechanism and hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances.

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 and endosomes.

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

Enhancers for ATP6V1A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATP6V1A on UCSC Golden Path with GeneCards custom track

Promoters for ATP6V1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP6V1A on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP6V1A Gene

Chromosome:
3
Start:
113,747,019 bp from pter
End:
113,812,058 bp from pter
Size:
65,040 bases
Orientation:
Plus strand

Genomic View for ATP6V1A Gene

Genes around ATP6V1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P38606-VATA_HUMAN
    Recommended name:
    V-type proton ATPase catalytic subunit A
    Protein Accession:
    P38606
    Secondary Accessions:
    • B2RBR8
    • B7Z1R5
    • D3DN75
    • Q53YD9
    • Q96DY6
    • Q9UHY3

    Protein attributes for ATP6V1A Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP6V1A Gene

Proteomics data for ATP6V1A Gene at MOPED

Post-translational modifications for ATP6V1A Gene

  • Ubiquitination at Lys 467 and Lys 580
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP6V1A Gene

Domains & Families for ATP6V1A Gene

Gene Families for ATP6V1A Gene

HGNC:
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

P38606

UniProtKB/Swiss-Prot:

VATA_HUMAN :
  • Belongs to the ATPase alpha/beta chains family.
Family:
  • 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

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

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP6V1A

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V1A Gene

Localization for ATP6V1A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP6V1A Gene COMPARTMENTS Subcellular localization image for ATP6V1A gene
Compartment Confidence
cytosol 5
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
nucleus 3
mitochondrion 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ATP6V1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005887 integral component of plasma membrane TAS 8463241
GO:0005902 microvillus IEA --
GO:0033180 proton-transporting V-type ATPase, V1 domain IEA --
GO:0043209 myelin sheath IEA --
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 & Interactions 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:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0016241 regulation of macroautophagy NAS 22982048
GO:0046034 ATP metabolic process IEA --
GO:0090382 phagosome maturation TAS --
GO:0090383 phagosome acidification TAS --
genes like me logo Genes that share ontologies with ATP6V1A: view

No data available for SIGNOR curated interactions for ATP6V1A Gene

Drugs & Compounds for ATP6V1A Gene

(18) Drugs for ATP6V1A Gene - From: DrugBank, ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Etidronic acid Approved Pharma Target, inhibitor 83
tiludronate Approved Pharma Target, inhibitor 0
Alendronate Approved Pharma Inhibition, Inhibitor, Target, inhibitor Bone resorption inhibitor, Osteoclast function modifiers (important in bone metastasis) 157
Digoxin Approved Pharma 130
Adenosine triphosphate Approved Nutra 0

(5) Additional Compounds for ATP6V1A Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
Concanamycin A
80890-47-7
Enterostatin
117830-79-2

(4) 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
Enterostatin Binds to beta-subunit of F1-ATPase; anorexigenic peptide 117830-79-2

(11) ApexBio Compounds for ATP6V1A Gene

Compound Action Cas Number
(-)-Blebbistatin Non muscle myosin II ATPase inhibitor 856925-71-8
BHQ 88-58-4
Brefeldin A 20350-15-6
BTB06584 F1F0 ATP synthases 219793-45-0
Ciclopirox ethanolamine 41621-49-2
Digoxin 20830-75-5
Golgicide A 1139889-93-2
Oligomycin A Mitochondrial ATP synthase Inhibitor 579-13-5
PF-03716556 Acid pump antagonist,potent and selective 928774-43-0
Sodium Orthovanadate PTP inhibitor 13721-39-6
TAK-438 Blocker of potassium-competitive acid 1260141-27-2
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: -
SP4:
SP5: - - -
SP6: -

ExUns: 18b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for ATP6V1A Gene

GeneLoc Exon Structure for
ATP6V1A
ECgene alternative splicing isoforms for
ATP6V1A

Expression for ATP6V1A Gene

mRNA expression in normal human tissues for ATP6V1A Gene

Protein differential expression in normal tissues from HIPED for ATP6V1A Gene

This gene is overexpressed in Brain (13.9), Frontal cortex (11.6), and Retina (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

P38606-VATA_HUMAN
Tissue specificity: Present in all tissues analyzed.
genes like me logo Genes that share expression patterns with ATP6V1A: view

Protein tissue co-expression partners for ATP6V1A Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
cow
(Bos Taurus)
Mammalia ATP6V1A 35
  • 93.84 (n)
  • 98.7 (a)
ATP6V1A 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V1A 35
  • 93.84 (n)
  • 98.7 (a)
ATP6V1A 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v1a 35
  • 89.47 (n)
  • 98.06 (a)
Atp6v1a 16
Atp6v1a 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1A 35
  • 99.41 (n)
  • 99.51 (a)
ATP6V1A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v1a 35
  • 89.57 (n)
  • 97.73 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP6V1A 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 84 (a)
OneToMany
-- 36
  • 96 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATP6V1A 35
  • 80.72 (n)
  • 92.59 (a)
ATP6V1A 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6V1A 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1a 35
  • 77.26 (n)
  • 94 (a)
LOC394868 35
African clawed frog
(Xenopus laevis)
Amphibia atp6a1-prov 35
zebrafish
(Danio rerio)
Actinopterygii atp6v1ab 35
  • 78.71 (n)
  • 93.19 (a)
zgc63516 35
atp6v1aa 36
  • 93 (a)
OneToMany
atp6v1ab 36
  • 93 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Vha68-1 35
  • 69.11 (n)
  • 83.06 (a)
Vha68-1 36
  • 83 (a)
OneToMany
Vha68-2 36
  • 83 (a)
OneToMany
Vha68-3 36
  • 60 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vha-13 35
  • 69.26 (n)
  • 81.59 (a)
vha-13 36
  • 81 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05401g 35
  • 61.01 (n)
  • 64.13 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA1 35
  • 60.11 (n)
  • 60.96 (a)
VMA1 36
  • 38 (a)
OneToOne
VMA1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons VHA-A 35
  • 63.83 (n)
  • 69.89 (a)
soybean
(Glycine max)
eudicotyledons Gma.1434 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.563 35
barley
(Hordeum vulgare)
Liliopsida Hv.516 35
rice
(Oryza sativa)
Liliopsida Os02g0175400 35
  • 65.01 (n)
  • 70.25 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.2650 35
corn
(Zea mays)
Liliopsida Zm.6945 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5381 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 savignyi)
Ascidiacea -- 36
  • 79 (a)
OneToMany
CSA.842 36
  • 80 (a)
OneToMany
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

ENSEMBL:
Gene Tree for ATP6V1A (if available)
TreeFam:
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
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

Variation tolerance for ATP6V1A Gene

Residual Variation Intolerance Score: 24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.05% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ATP6V1A Gene

Disorders for ATP6V1A Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATP6V1A Gene - From: OMIM and DISEASES

Disorder Aliases PubMed IDs
renal tubular acidosis, distal, autosomal recessive
  • autosomal recessive distal renal tubular acidosis
baylisascariasis
  • infection by baylisascaris
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATP6V1A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V1A
genes like me logo Genes that share disorders with ATP6V1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  2. The bisphosphonate tiludronate is a potent inhibitor of the osteoclast vacuolar H(+)-ATPase. (PMID: 8889850) David P. … Baron R. (J. Bone Miner. Res. 1996) 25 26
  3. 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
  4. Expression and role of V1A subunit of V-ATPases in gastric cancer cells. (PMID: 25652905) Liu P. … Shen W. (Int. J. Clin. Oncol. 2015) 3
  5. ABCE1 is a highly conserved RNA silencing suppressor. (PMID: 25659154) KAorblane K. … Sarmiento C. (PLoS ONE 2015) 3

Products for ATP6V1A Gene

Sources for ATP6V1A Gene

Content