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Aliases for ATP6V0E1 Gene

Aliases for ATP6V0E1 Gene

  • ATPase H+ Transporting V0 Subunit E1 2 3
  • ATPase, H+ Transporting, Lysosomal 9kDa, V0 Subunit E1 2 3 5
  • V-ATPase 9.2 KDa Membrane Accessory Protein 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. Among its related pathways are Synaptic vesicle cycle and Immune System. 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 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V0E1 Gene

Genomics for ATP6V0E1 Gene

Regulatory Elements for ATP6V0E1 Gene

Enhancers for ATP6V0E1 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 ATP6V0E1 on UCSC Golden Path with GeneCards custom track

Promoters for ATP6V0E1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP6V0E1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP6V0E1 Gene

Chromosome:
5
Start:
172,983,757 bp from pter
End:
173,035,445 bp from pter
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

Proteomics data for ATP6V0E1 Gene at MOPED

Post-translational modifications for ATP6V0E1 Gene

No Post-translational modifications

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

HGNC:
IUPHAR :

Protein Domains for ATP6V0E1 Gene

Suggested Antigen Peptide Sequences for ATP6V0E1 Gene

GenScript: Design optimal peptide antigens:

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.
genes like me logo Genes that share phenotypes with ATP6V0E1: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for ATP6V0E1 Gene COMPARTMENTS Subcellular localization image for ATP6V0E1 gene
Compartment Confidence
endosome 4
extracellular 3
vacuole 2
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ATP6V0E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033179 proton-transporting V-type ATPase, V0 domain IEA --
genes like me logo Genes that share ontologies with ATP6V0E1: view

Pathways & Interactions for ATP6V0E1 Gene

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

Gene Ontology (GO) - Biological Process for ATP6V0E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0016049 cell growth IGI 17350184
GO:0016241 regulation of macroautophagy NAS 22982048
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with ATP6V0E1: view

No data available for SIGNOR curated interactions for ATP6V0E1 Gene

Drugs & Compounds for ATP6V0E1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Digoxin Approved Pharma 130
Adenosine triphosphate Approved Nutra 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 34
Bafilomycin A1 Experimental Pharma H+-ATPase (vacuolar) inhibitor 0
(-)-Blebbistatin Pharma Non muscle myosin II ATPase inhibitor 0

(6) Additional Compounds for ATP6V0E1 Gene - From: HMDB, Novoseek, 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 ATP6V0E1 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 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

Transcripts for ATP6V0E1 Gene

Unigene Clusters for ATP6V0E1 Gene

ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
ATP6V0E1

Expression for ATP6V0E1 Gene

mRNA expression in normal human tissues 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).

SOURCE GeneReport for Unigene cluster for ATP6V0E1 Gene Hs.484188

mRNA Expression by UniProt/SwissProt for ATP6V0E1 Gene

O15342-VA0E1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ATP6V0E1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia ATP6V0E1 35
  • 93.83 (n)
  • 97.53 (a)
ATP6V0E1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V0E1 35
  • 94.24 (n)
  • 97.53 (a)
ATP6V0E1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v0e 35
  • 90.53 (n)
  • 98.77 (a)
Atp6v0e 16
Atp6v0e 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP6V0E1 35
  • 99.59 (n)
  • 100 (a)
ATP6V0E1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v0e1 35
  • 90.95 (n)
  • 98.77 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP6V0E1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V0E1 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6V0E1 35
  • 76.54 (n)
  • 83.95 (a)
ATP6V0E1 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6V0E1 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v0e1 35
  • 76.54 (n)
  • 85.19 (a)
Str.1594 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.4166 35
zebrafish
(Danio rerio)
Actinopterygii atpv0e1 35
  • 65.02 (n)
  • 67.9 (a)
Dr.11059 35
atpv0e1 36
  • 69 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10092 35
fruit fly
(Drosophila melanogaster)
Insecta VhaM9.7-a 36
  • 34 (a)
ManyToMany
VhaM9.7-b 36
  • 34 (a)
ManyToMany
VhaM9.7-c 36
  • 30 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea vha-17 36
  • 42 (a)
OneToMany
Species with no ortholog for ATP6V0E1:
  • 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)

Paralogs for ATP6V0E1 Gene

Paralogs for ATP6V0E1 Gene

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

Pseudogenes.org Pseudogenes for ATP6V0E1 Gene

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

Variants for ATP6V0E1 Gene

Sequence variations from dbSNP and Humsavar for ATP6V0E1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs4849 -- 173,034,881(+) CCTCC(A/C/T)TTCTA utr-variant-3-prime
rs11934 -- 173,034,612(+) CGATT(A/G)TGTAC utr-variant-3-prime
rs13017 -- 173,034,608(+) AAAAC(G/T)ATTAT utr-variant-3-prime
rs15179 -- 173,034,814(+) GAATC(A/G)CACCA utr-variant-3-prime
rs15180 -- 173,034,849(+) TTCTT(C/T)CTGCC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv830555 CNV Loss 17160897
nsv883115 CNV Loss 21882294
dgv361n21 CNV Loss 19592680
esv2659869 CNV Deletion 23128226
nsv327510 CNV Loss 16902084

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ATP6V0E1 Gene

Disorders for ATP6V0E1 Gene

Relevant External Links for ATP6V0E1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V0E1

No disorders were found for ATP6V0E1 Gene.

No data available for MalaCards , 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. … Schaegger H. (J. Biol. Chem. 1998) 2 3 4 67
  2. 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 P.M. (J. Biol. Chem. 2004) 2 3
  3. Lipofuscin is formed independently of macroautophagy and lysosomal activity in stress-induced prematurely senescent human fibroblasts. (PMID: 22982048) HAPhn A. … Grune T. (Free Radic. Biol. Med. 2012) 3
  4. VMA21 deficiency: a case of myocyte indigestion. (PMID: 19379689) Hirano M. … DiMauro S. (Cell 2009) 23
  5. VMA21 deficiency causes an autophagic myopathy by compromising V- ATPase activity and lysosomal acidification. (PMID: 19379691) Ramachandran N. … Minassian B.A. (Cell 2009) 23

Products for ATP6V0E1 Gene

Sources for ATP6V0E1 Gene

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