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... See more...

Aliases for ATP6V0E1 Gene

Aliases for ATP6V0E1 Gene

  • ATPase H+ Transporting V0 Subunit E1 2 3 5
  • ATPase, H+ Transporting, Lysosomal 9kDa, V0 Subunit E1 2 3
  • V-ATPase 9.2 KDa Membrane Accessory Protein 3 4
  • V-Type Proton ATPase Subunit E 1 3 4
  • Vacuolar Proton Pump Subunit E 1 3 4
  • V-ATPase M9.2 Subunit 3 4
  • V-ATPase Subunit E 1 3 4
  • ATP6V0E 3 4
  • ATP6H 3 4
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 9kD 2
  • ATPase, H+ Transporting, Lysosomal 9kDa, V0 Subunit E 2
  • H(+)-Transporting Two-Sector ATPase, Subunit H 3
  • Vacuolar Proton-ATPase Subunit M9.2 3
  • Vacuolar ATP Synthase Subunit H 3
  • Vacuolar Proton Pump H Subunit 3
  • V-ATPase H Subunit 3
  • Vma21p 3
  • Vma21 3
  • M9.2 3

External Ids for ATP6V0E1 Gene

Previous HGNC Symbols for ATP6V0E1 Gene

  • ATP6H
  • ATP6V0E

Previous GeneCards Identifiers for ATP6V0E1 Gene

  • GC05P172344
  • GC05P167505
  • GC05P172410

Summaries for ATP6V0E1 Gene

Entrez Gene Summary for ATP6V0E1 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 possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP6V0E1 Gene

ATP6V0E1 (ATPase H+ Transporting V0 Subunit E1) is a Protein Coding gene. Diseases associated with ATP6V0E1 include Episodic Ataxia, Type 4 and Episodic Ataxia, Type 3. Among its related pathways are Insulin receptor recycling and Synaptic vesicle cycle. Gene Ontology (GO) annotations related to this gene include transporter activity and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP6V0E2.

UniProtKB/Swiss-Prot Summary for ATP6V0E1 Gene

  • Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Tocris Summary for ATP6V0E1 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 ATP6V0E1 Gene

Additional gene information for ATP6V0E1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP6V0E1 Gene

Genomics for ATP6V0E1 Gene

GeneHancer (GH) Regulatory Elements for ATP6V0E1 Gene

Promoters and enhancers for ATP6V0E1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP6V0E1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP6V0E1

Top Transcription factor binding sites by QIAGEN in the ATP6V0E1 gene promoter:
  • AML1a
  • c-Ets-1
  • C/EBPbeta
  • FAC1
  • HNF-1
  • HNF-1A
  • IRF-1
  • Pax-2
  • Pax-2a
  • Pax-2b

Genomic Locations for ATP6V0E1 Gene

Genomic Locations for ATP6V0E1 Gene
chr5:172,983,760-173,035,445
(GRCh38/hg38)
Size:
51,686 bases
Orientation:
Plus strand
chr5:172,410,760-172,462,448
(GRCh37/hg19)
Size:
51,689 bases
Orientation:
Plus strand

Genomic View for ATP6V0E1 Gene

Genes around ATP6V0E1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V0E1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V0E1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V0E1 Gene

Proteins for ATP6V0E1 Gene

  • Protein details for ATP6V0E1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15342-VA0E1_HUMAN
    Recommended name:
    V-type proton ATPase subunit e 1
    Protein Accession:
    O15342
    Secondary Accessions:
    • B2R557
    • D3DQM1
    • Q6IBE8

    Protein attributes for ATP6V0E1 Gene

    Size:
    81 amino acids
    Molecular mass:
    9374 Da
    Quaternary structure:
    • Composed of at least 10 subunits.
    SequenceCaution:
    • Sequence=CAA75571.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ATP6V0E1 Gene

Post-translational modifications for ATP6V0E1 Gene

  • Glycosylation at Asn70
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • VA0E1_HUMAN (1899)

Other Protein References for ATP6V0E1 Gene

No data available for DME Specific Peptides for ATP6V0E1 Gene

Domains & Families for ATP6V0E1 Gene

Gene Families for ATP6V0E1 Gene

Protein Domains for ATP6V0E1 Gene

Blocks:
  • ATP synthase subunit H
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ATP6V0E1 Gene

GenScript: Design optimal peptide antigens:
  • Vacuolar proton pump subunit e 1 (VA0E1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15342

UniProtKB/Swiss-Prot:

VA0E1_HUMAN :
  • Belongs to the V-ATPase e1/e2 subunit family.
Family:
  • Belongs to the V-ATPase e1/e2 subunit family.
genes like me logo Genes that share domains with ATP6V0E1: view

Function for ATP6V0E1 Gene

Molecular function for ATP6V0E1 Gene

UniProtKB/Swiss-Prot Function:
Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Phenotypes From GWAS Catalog for ATP6V0E1 Gene

Gene Ontology (GO) - Molecular Function for ATP6V0E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015078 proton transmembrane transporter activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0042625 ATPase coupled ion transmembrane transporter activity ISS --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IGI,TAS 17350184
genes like me logo Genes that share ontologies with ATP6V0E1: view
genes like me logo Genes that share phenotypes with ATP6V0E1: view

Animal Model Products

CRISPR Products

miRNA for ATP6V0E1 Gene

miRTarBase miRNAs that target ATP6V0E1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V0E1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V0E1 Gene

Localization for ATP6V0E1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6V0E1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP6V0E1 gene
Compartment Confidence
endosome 4
extracellular 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ATP6V0E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0010008 endosome membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030670 phagocytic vesicle membrane TAS --
genes like me logo Genes that share ontologies with ATP6V0E1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP6V0E1 Gene

Pathways & Interactions for ATP6V0E1 Gene

genes like me logo Genes that share pathways with ATP6V0E1: view

SIGNOR curated interactions for ATP6V0E1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ATP6V0E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007035 vacuolar acidification ISS --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0016241 regulation of macroautophagy NAS 22982048
GO:0033572 transferrin transport TAS --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with ATP6V0E1: view

Drugs & Compounds for ATP6V0E1 Gene

(16) Drugs for ATP6V0E1 Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Digoxin Approved Pharma Na+/K+ ATPase inhibitor 170
Water Approved Pharma 0
Brefeldin A Experimental Pharma Disrupts protein translocation to Golgi 0
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
Concanamycin A Experimental Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0

(2) Additional Compounds for ATP6V0E1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2

(2) Tocris Compounds for ATP6V0E1 Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor 88899-55-2
Concanamycin A H+-ATPase (vacuolar) inhibitor 80890-47-7

(11) ApexBio Compounds for ATP6V0E1 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 ATP6V0E1: view

Drug Products

Transcripts for ATP6V0E1 Gene

mRNA/cDNA for ATP6V0E1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V0E1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0E1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c
SP1:
SP2: -
SP3: -

Relevant External Links for ATP6V0E1 Gene

GeneLoc Exon Structure for
ATP6V0E1

Expression for ATP6V0E1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP6V0E1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP6V0E1 Gene

This gene is overexpressed in Whole Blood (x7.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP6V0E1

SOURCE GeneReport for Unigene cluster for ATP6V0E1 Gene:

Hs.484188

mRNA Expression by UniProt/SwissProt for ATP6V0E1 Gene:

O15342-VA0E1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ATP6V0E1 Gene

  • Nervous system(4)
  • Pancreas(3.6)
  • Skin(3.6)
  • Lung(3.4)
  • Eye(2.3)
  • Thyroid gland(2.3)
  • Gall bladder(2.2)
  • Kidney(2.2)
  • Lymph node(2.2)
  • Adrenal gland(2.1)
  • Heart(2.1)
  • Intestine(2.1)
  • Muscle(2.1)
  • Spleen(2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with ATP6V0E1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6V0E1 Gene

Orthologs for ATP6V0E1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATP6V0E1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP6V0E1 31 30
  • 99.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V0E1 31 30
  • 94.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATP6V0E1 31 30
  • 93.83 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V0E1 31
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v0e1 30
  • 90.95 (n)
mouse
(Mus musculus)
Mammalia Atp6v0e 17 31 30
  • 90.53 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP6V0E1 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6V0E1 31 30
  • 76.54 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6V0E1 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v0e1 30
  • 76.54 (n)
Str.1594 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.4166 30
zebrafish
(Danio rerio)
Actinopterygii atpv0e1 31 30
  • 65.02 (n)
OneToOne
Dr.11059 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10092 30
fruit fly
(Drosophila melanogaster)
Insecta VhaM9.7-a 31
  • 34 (a)
ManyToMany
VhaM9.7-b 31
  • 34 (a)
ManyToMany
VhaM9.7-c 31
  • 30 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea vha-17 31
  • 42 (a)
OneToMany
Species where no ortholog for ATP6V0E1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP6V0E1 Gene

ENSEMBL:
Gene Tree for ATP6V0E1 (if available)
TreeFam:
Gene Tree for ATP6V0E1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP6V0E1: view image

Paralogs for ATP6V0E1 Gene

Paralogs for ATP6V0E1 Gene

(1) SIMAP similar genes for ATP6V0E1 Gene using alignment to 3 proteins:

  • VA0E1_HUMAN
  • E5RHL5_HUMAN
  • J3KN48_HUMAN

Pseudogenes.org Pseudogenes for ATP6V0E1 Gene

genes like me logo Genes that share paralogs with ATP6V0E1: view

Variants for ATP6V0E1 Gene

Additional dbSNP identifiers (rs#s) for ATP6V0E1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP6V0E1 Gene

Variant ID Type Subtype PubMed ID
dgv361n21 CNV loss 19592680
esv2659869 CNV deletion 23128226
esv3607602 CNV loss 21293372
esv3607603 CNV loss 21293372
esv3607605 CNV loss 21293372
nsv327510 CNV deletion 16902084
nsv830555 CNV loss 17160897
nsv968271 CNV duplication 23825009

Variation tolerance for ATP6V0E1 Gene

Residual Variation Intolerance Score: 43.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.04; 0.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP6V0E1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V0E1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP6V0E1 Gene

Disorders for ATP6V0E1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ATP6V0E1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP6V0E1

genes like me logo Genes that share disorders with ATP6V0E1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP6V0E1 Gene

Publications for ATP6V0E1 Gene

  1. Identification and characterization of a novel 9.2-kDa membrane sector-associated protein of vacuolar proton-ATPase from chromaffin granules. (PMID: 9556572) Ludwig J … Schägger H (The Journal of biological chemistry 1998) 2 3 4 54
  2. Molecular cloning and characterization of a novel form of the human vacuolar H+-ATPase e-subunit: an essential proton pump component. (PMID: 17350184) Blake-Palmer KG … Karet FE (Gene 2007) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. The yeast vacuolar proton-translocating ATPase contains a subunit homologous to the Manduca sexta and bovine e subunits that is essential for function. (PMID: 14970230) Sambade M … Kane PM (The Journal of biological chemistry 2004) 2 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for ATP6V0E1 Gene

Sources for ATP6V0E1 Gene