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ATP6V0E1 Gene

protein-coding   GIFtS: 53
GCID: GC05P172410

ATPase, H+ Transporting, Lysosomal 9kDa, V0 Subunit E1

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump)...)
(Previous symbols: ATP6H, ATP6V0E)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATPase, H+ Transporting, Lysosomal 9kDa, V0 Subunit E11 2     M9.22
ATP6H1 2 3 5     Vma212
ATP6V0E1 2 3 5     Vma21p2
Vacuolar Proton Pump Subunit E 12 3     H(+)-Transporting Two-Sector ATPase, Subunit H2
V-ATPase 9.2 KDa Membrane Accessory Protein2 3     V-ATPase H Subunit2
V-ATPase M9.2 Subunit2 3     V-Type Proton ATPase Subunit E 12
V-ATPase Subunit E 12 3     Vacuolar ATP Synthase Subunit H2
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 9kD1     Vacuolar Proton Pump H Subunit2
ATPase, H+ Transporting, Lysosomal 9kDa, V0 Subunit E1     Vacuolar Proton-ATPase Subunit M9.22

External Ids:    HGNC: 8631   Entrez Gene: 89922   Ensembl: ENSG000001137327   OMIM: 6039315   UniProtKB: O153423   

Export aliases for ATP6V0E1 gene to outside databases

Previous GC identifers: GC05P172344 GC05P167505


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, lysosomal 9kDa, V0 subunit e1) is a protein-coding gene. GO annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of ions. An important paralog of this gene is ATP6V0E2.

UniProtKB/Swiss-Prot: VA0E1_HUMAN, O15342
Function: Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic
cells

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, 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 ATP6V0E1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_023133.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP6V0E1 gene promoter:
         C/EBPbeta   AML1a   Pax-2   Pax-2a   IRF-1   c-Ets-1   HNF-1A   FAC1   Pax-2b   HNF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V0E1 promoter sequence
   Search Chromatin IP Primers for ATP6V0E1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP6V0E1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q35.1   Ensembl cytogenetic band:  5q35.1   HGNC cytogenetic band: 5q35.2

ATP6V0E1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V0E1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P172410:  view genomic region     (about GC identifiers)

Start:
172,410,760 bp from pter      End:
172,462,448 bp from pter
Size:
51,689 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VA0E1_HUMAN, O15342 (See protein sequence)
Recommended Name: V-type proton ATPase subunit e 1  
Size: 81 amino acids; 9374 Da
Subunit: Composed of at least 10 subunits
Sequence caution: Sequence=CAA75571.1; Type=Erroneous initiation;
Secondary accessions: B2R557 D3DQM1 Q6IBE8

Explore the universe of human proteins at neXtProt for ATP6V0E1: NX_O15342

REFSEQ proteins: NP_003936.1  
ENSEMBL proteins: 
 ENSP00000429690   ENSP00000430896   ENSP00000265093   ENSP00000427941  
Reactome Protein details: O15342

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
VATP: ATPases / V-type

IUPHAR Guide to PHARMACOLOGY protein family classification: e1
V-type ATPase

2 InterPro protein domains:
 IPR017385 ATPase_V0-cplx_e1/e2_su_met
 IPR008389 ATPase_V0-cplx_e1/e2_su

Graphical View of Domain Structure for InterPro Entry O15342

ProtoNet protein and cluster: O15342

1 Blocks protein domain: IPB008389 ATP synthase subunit H

UniProtKB/Swiss-Prot: VA0E1_HUMAN, O15342
Similarity: Belongs to the V-ATPase e1/e2 subunit family


Find genes that share domains with ATP6V0E1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: VA0E1_HUMAN, O15342
Function: Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic
cells

     Gene Ontology (GO): 4 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005215transporter activity NAS9556572
GO:0015078hydrogen ion transmembrane transporter activity ----
GO:0042625ATPase activity, coupled to transmembrane movement of ions ISS--
GO:0046961proton-transporting ATPase activity, rotational mechanism TAS9556572
     
Find genes that share ontologies with ATP6V0E1           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for ATP6V0E1:
 Synthetic lethal with imatinib 

Animal Models:
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miRNA
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hsa-miR-146a* hsa-miR-587 hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-431 hsa-miR-3714
SwitchGear 3'UTR luciferase reporter plasmidATP6V0E1 3' UTR sequence
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
VA0E1_HUMAN, O15342: Membrane; Multi-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endosome4
extracellular3
lysosome1
nucleus1
plasma membrane1

Gene Ontology (GO): 5 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0010008endosome membrane TAS--
GO:0016020membrane TAS9556572
GO:0016021integral component of membrane IEA--
GO:0030670phagocytic vesicle membrane TAS--
GO:0033179proton-transporting V-type ATPase, V0 domain IEA--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for ATP6V0E1 About   (see all 10)  
See pathways by source

SuperPathContained pathways About
1Insulin receptor recycling
Insulin receptor recycling0.74
Collecting duct acid secretion0.66
Transferrin endocytosis and recycling0.74
Vibrio cholerae infection0.40
Iron uptake and transport0.70
Epithelial cell signaling in Helicobacter pylori infection0.32
2Insulin receptor signalling cascade
Signaling by Insulin receptor0.80
3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Oxidative phosphorylation0.64
4Signaling by GPCR
Signal Transduction0.58
5Synaptic vesicle cycle
Synaptic vesicle cycle0.50


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Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



3 Reactome Pathways for ATP6V0E1
    Insulin receptor recycling
Phagosomal maturation (early endosomal stage)
Transferrin endocytosis and recycling


Selected Kegg Pathways  (Kegg details for ATP6V0E1) (see all 8):
    Oxidative phosphorylation
Metabolic pathways
Phagosome
Synaptic vesicle cycle
Collecting duct acid secretion

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Interactions:

    Search GeneGlobe Interaction Network for ATP6V0E1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for ATP6V0E1 (O153423 ENSP000002650934) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
InteractantInteraction Details
GeneCardExternal ID(s)
ATP6V1E1P365433, ENSP000002534134I2D: score=1 STRING: ENSP00000253413
ATP6V0BENSP000002360674STRING: ENSP00000236067
ATP6V0CENSP000003297574STRING: ENSP00000329757
ATP6V0E2ENSP000004116724STRING: ENSP00000411672
ATP6V1AENSP000002733984STRING: ENSP00000273398
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Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006879cellular iron ion homeostasis TAS--
GO:0007035vacuolar acidification ISS--
GO:0008286insulin receptor signaling pathway TAS--
GO:0015991ATP hydrolysis coupled proton transport IEA--
GO:0015992proton transport TAS9556572

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Compounds for ATP6V0E1 available from Tocris Bioscience    About this table
CompoundAction CAS #
Bafilomycin A1H+-ATPase (vacuolar) inhibitor[88899-55-2]
Concanamycin AH+-ATPase (vacuolar) inhibitor[80890-47-7]
DisulfiramReversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities[97-77-8]

4 HMDB Compounds for ATP6V0E1    About this table
CompoundSynonyms CAS #PubMed Ids
ADPadenosindiphosphorsaeure (see all 8)58-64-0--
Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
PhosphateNFB Orthophosphate (see all 13)14265-44-2--
WaterDihydrogen oxide (see all 2)7732-18-5--

1 Novoseek inferred chemical compound relationship for ATP6V0E1 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
hydrogen 23.7 3 19379689 (1), 19379691 (1)



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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for ATP6V0E1 gene: 
NM_003945.3  

Unigene Cluster for ATP6V0E1:

ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1
Hs.484188  [show with all ESTs]
Unigene Representative Sequence: AV763803
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000519374(uc003mcd.1) ENST00000519911 ENST00000265093 ENST00000517669

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hsa-miR-146a* hsa-miR-587 hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-431 hsa-miR-3714
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Additional mRNA sequence: 

AK312068.1 BC119714.1 BC119715.1 CR456856.1 CR542131.1 Y15286.1 

14 DOTS entries:

DT.92021411  DT.92024475  DT.91771067  DT.75183228  DT.100753138  DT.406514  DT.91771066  DT.120850937 
DT.95170928  DT.100058001  DT.120850948  DT.120850949  DT.97862313  DT.120850930 

Selected AceView cDNA sequences (see all 620):

CA940995 BU734329 BU733131 CF127008 CA775616 AA041536 AA614559 BU681504 
AI523440 BU157632 AI075464 AI304358 BG057633 AI081637 BM510808 BQ938017 
BF940497 BQ683161 AA931100 BU951937 CR623335 BQ230822 BM713386 BM697501 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0E1    About this scheme

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


ECgene alternative splicing isoforms for ATP6V0E1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ATP6V0E1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTCTACAGTG
ATP6V0E1 Expression
About this image


ATP6V0E1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Bone (Muscoskeletal System)
         Membranous Facial Bones
 
 Ovary (Reproductive System)
ATP6V0E1 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.484188

UniProtKB/Swiss-Prot: VA0E1_HUMAN, O15342
Tissue specificity: Ubiquitous

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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for ATP6V0E1 gene from Selected species (see all 15)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Atp6v0e1 , 5 ATPase, H+ transporting, lysosomal V0 subunit E1, 5 90.53(n)1
98.77(a)1
  17 (13.46 cM)5
119741  NM_025272.21  NP_079548.11 
 266763965 
chicken
(Gallus gallus)
Aves ATP6V0E11 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit more 76.54(n)
83.95(a)
  768854  NM_001097532.2  NP_001091001.1 
lizard
(Anolis carolinensis)
Reptilia ATP6V0E16
ATPase, H+ transporting, lysosomal 9kDa, V0 subuni...
80(a)
1 ↔ 1
2(124488902-124510291)
African clawed frog
(Xenopus laevis)
Amphibia Xl.41662 Xenopus laevis transcribed sequence with moderate similarity more 77.14(n)    48046320 
zebrafish
(Danio rerio)
Actinopterygii Dr.110592 Transcribed sequence with weak similarity to protein more 72.46(n)    BI428494.1 
fruit fly
(Drosophila melanogaster)
Insecta VhaM9.7-a6
VhaM9.7-b6
(see all 3)
Vacuolar H[+] ATPase subunit M9.7-b
(see all 3)
34(a)
34(a)
(see all 3)
many ↔ many
many ↔ many
(see all 3)
3L(4262705-4263464)
3L(21532962-21534315)
worm
(Caenorhabditis elegans)
Secernentea vha-176
Protein VHA-17 (vha-17) mRNA, complete cds
42(a)
1 → many
IV(9321801-9322528) WBGene00009882


ENSEMBL Gene Tree for ATP6V0E1 (if available)
TreeFam Gene Tree for ATP6V0E1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ATP6V0E1 gene
ATP6V0E22  
1 SIMAP similar gene for ATP6V0E1 using alignment to 3 protein entries:     VA0E1_HUMAN (see all proteins):
ATP6V0E2

Find genes that share paralogs with ATP6V0E1           About GenesLikeMe


4 Pseudogenes.org Pseudogenes for ATP6V0E1
PGOHUM00000244706 PGOHUM00000240617 PGOHUM00000237598 PGOHUM00000235760


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ATP6V0E1 (see all 1042)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 5 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1891354551,2
--172409050(+) TTGGCA/GCATAC 1 -- us2k10--------
rs738036871,2
C,F--172409088(+) GCAAGC/TGTTCT 1 -- us2k12Minor allele frequency- T:0.11WA 120
rs1453119571,2
--172409196(+) CCCACC/TGGGGC 1 -- us2k10--------
rs1818990361,2
--172409293(+) CTGAGC/GCAGAA 1 -- us2k10--------
rs1859103011,2
--172409295(+) GAGGCA/CGAAGG 1 -- us2k10--------
rs1912215061,2
--172409313(+) GAGCCC/TGGGAG 1 -- us2k10--------
rs1476463821,2
--172409316(+) CCCGGA/GAGTTC 1 -- us2k10--------
rs571822481,2
C,F--172409347(+) AGCACC/GACTGC 1 -- us2k13Minor allele frequency- G:0.10WA 122
rs1829059721,2
--172409374(+) CAGAGA/CAAGGC 1 -- us2k10--------
rs1115500581,2
C--172409439(+) CTTTC-/TTTTTT 1 -- us2k11Minor allele frequency- T:0.00CSA 2

HapMap Linkage Disequilibrium report for ATP6V0E1 (172410760 - 172462448 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for ATP6V0E1:    About this table    
Variant IDTypeSubtypePubMed ID
esv2659869CNV Deletion23128226
dgv361n21CNV Loss19592680
nsv327510CNV Loss16902084
nsv830555CNV Loss17160897
nsv883115CNV Loss21882294

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ATP6V0E1
DNA2.0 Custom Variant and Variant Library Synthesis for ATP6V0E1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 603931    OMIM disorders: --


Find genes that share disorders with ATP6V0E1           About GenesLikeMe

1 Novoseek inferred disease relationship for ATP6V0E1 gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
myopathy 53.9 1 19379691 (1)


Export disorders for ATP6V0E1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for ATP6V0E1 gene, integrated from 10 sources (see all 26):
(articles sorted by number of sources associating them with ATP6V0E1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification and characterization of a novel 9.2-kDa membrane sector-associated protein of vacuolar proton-ATPase from chromaffin granules. (PubMed id 9556572)1, 2, 3 Ludwig J....Schaegger H. (J. Biol. Chem. 1998)
  2. Molecular cloning and characterization of a novel form of the human vacuolar H+-ATPase e-subunit: an essential proton pump component. (PubMed id 17350184)1, 2 Blake-Palmer K.G.... Karet F.E. (Gene 2007)
  3. The yeast vacuolar proton-translocating ATPase contains a subunit homologous to the Manduca sexta and bovine e subunits that is essential for function. (PubMed id 14970230)1, 3 Sambade M. and Kane P.M. (J. Biol. Chem. 2004)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  5. Coupling of rotation and catalysis in F(1)-ATPase revealed by single-molecule imaging and manipulation. (PubMed id 17662945)1 Adachi K....Kinosita K. (Cell 2007)
  6. Physical interaction between aldolase and vacuolar H+-ATPase is essential for the assembly and activity of the proton pump. (PubMed id 17576770)1 Lu M....Gluck S.L. (J. Biol. Chem. 2007)
  7. Full-length coding sequences and mapping of porcine ATP6VOE and ATP5G1 genes. (PubMed id 15906478)1 Wang H.L....Li K. (Cytogenet. Genome Res. 2005)
  8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  9. Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes. (PubMed id 14580332)1 Smith A.N....Karet F.E. (Mol. Cell 2003)
  10. Neurotransmitter release: the dark side of the vacuolar-H+ATPase. (PubMed id 14597263)1 Morel N. (Biol. Cell 2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8992 HGNC: 863 AceView: ATP6V0E Ensembl:ENSG00000113732 euGenes: HUgn8992
ECgene: ATP6V0E1 Kegg: 8992 H-InvDB: ATP6V0E1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for ATP6V0E1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for ATP6V0E1 gene:
Search GeneIP for patents involving ATP6V0E1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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