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ATP6V0E1 (ATPase H+ transporting V0 subunit e1)

Identity

Alias_namesATP6H
ATP6V0E
ATPase, H transporting, lysosomal (vacuolar proton pump) 9kD
ATPase, H transporting, lysosomal 9kDa, V0 subunit e
ATPase, H transporting, lysosomal 9kDa, V0 subunit e1
Alias_symbol (synonym)M9.2
Other aliasVma21
Vma21p
HGNC (Hugo) ATP6V0E1
LocusID (NCBI) 8992
Atlas_Id 54143
Location 5q35.1  [Link to chromosome band 5q35]
Location_base_pair Starts at 172410763 and ends at 172461900 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATF7IP (12p13.1) / ATP6V0E1 (5q35.1)ATP6V0E1 (5q35.1) / ATP6V0E1 (5q35.1)ATP6V0E1 (5q35.1) / EIF5B (2q11.2)
ATP6V0E1 (5q35.1) / OXR1 (8q23.1)ATP6V0E1 (5q35.1) / PAFAH1B1 (17p13.3)ATP6V0E1 (5q35.1) / USP15 (12q14.1)
MAU2 (19p13.11) / ATP6V0E1 (5q35.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ATP6V0E1   863
Cards
Entrez_Gene (NCBI)ATP6V0E1  8992  ATPase H+ transporting V0 subunit e1
AliasesATP6H; ATP6V0E; M9.2; Vma21; 
Vma21p
GeneCards (Weizmann)ATP6V0E1
Ensembl hg19 (Hinxton)ENSG00000113732 [Gene_View]  chr5:172410763-172461900 [Contig_View]  ATP6V0E1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000113732 [Gene_View]  chr5:172410763-172461900 [Contig_View]  ATP6V0E1 [Vega]
ICGC DataPortalENSG00000113732
TCGA cBioPortalATP6V0E1
AceView (NCBI)ATP6V0E1
Genatlas (Paris)ATP6V0E1
WikiGenes8992
SOURCE (Princeton)ATP6V0E1
Genetics Home Reference (NIH)ATP6V0E1
Genomic and cartography
GoldenPath hg19 (UCSC)ATP6V0E1  -     chr5:172410763-172461900 +  5q35.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATP6V0E1  -     5q35.1   [Description]    (hg38-Dec_2013)
EnsemblATP6V0E1 - 5q35.1 [CytoView hg19]  ATP6V0E1 - 5q35.1 [CytoView hg38]
Mapping of homologs : NCBIATP6V0E1 [Mapview hg19]  ATP6V0E1 [Mapview hg38]
OMIM603931   
Gene and transcription
Genbank (Entrez)AI198465 AK312068 BC119714 BC119715 BF691381
RefSeq transcript (Entrez)NM_003945
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_023133 NW_004929325
Consensus coding sequences : CCDS (NCBI)ATP6V0E1
Cluster EST : UnigeneHs.484188 [ NCBI ]
CGAP (NCI)Hs.484188
Alternative Splicing GalleryENSG00000113732
Gene ExpressionATP6V0E1 [ NCBI-GEO ]   ATP6V0E1 [ EBI - ARRAY_EXPRESS ]   ATP6V0E1 [ SEEK ]   ATP6V0E1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V0E1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8992
GTEX Portal (Tissue expression)ATP6V0E1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15342   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15342  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15342
Splice isoforms : SwissVarO15342
PhosPhoSitePlusO15342
Domains : Interpro (EBI)ATPase_V0-cplx_e1/e2_su    ATPase_V0-cplx_e1/e2_su_met   
Domain families : Pfam (Sanger)ATP_synt_H (PF05493)   
Domain families : Pfam (NCBI)pfam05493   
Conserved Domain (NCBI)ATP6V0E1
DMDM Disease mutations8992
Blocks (Seattle)ATP6V0E1
SuperfamilyO15342
Human Protein AtlasENSG00000113732
Peptide AtlasO15342
HPRD04894
IPIIPI00217058   IPI00980142   IPI00978126   
Protein Interaction databases
DIP (DOE-UCLA)O15342
IntAct (EBI)O15342
FunCoupENSG00000113732
BioGRIDATP6V0E1
STRING (EMBL)ATP6V0E1
ZODIACATP6V0E1
Ontologies - Pathways
QuickGOO15342
Ontology : AmiGOtransporter activity  vacuolar acidification  metabolic process  insulin receptor signaling pathway  endosome membrane  ATP hydrolysis coupled proton transport  proton transport  membrane  integral component of membrane  cell growth  regulation of macroautophagy  phagocytic vesicle membrane  proton-transporting V-type ATPase, V0 domain  transferrin transport  ion transmembrane transport  ATPase coupled ion transmembrane transporter activity  proton-transporting ATPase activity, rotational mechanism  phagosome acidification  
Ontology : EGO-EBItransporter activity  vacuolar acidification  metabolic process  insulin receptor signaling pathway  endosome membrane  ATP hydrolysis coupled proton transport  proton transport  membrane  integral component of membrane  cell growth  regulation of macroautophagy  phagocytic vesicle membrane  proton-transporting V-type ATPase, V0 domain  transferrin transport  ion transmembrane transport  ATPase coupled ion transmembrane transporter activity  proton-transporting ATPase activity, rotational mechanism  phagosome acidification  
Pathways : KEGGOxidative phosphorylation    Phagosome    Synaptic vesicle cycle    Collecting duct acid secretion    Vibrio cholerae infection    Epithelial cell signaling in Helicobacter pylori infection    Rheumatoid arthritis   
NDEx NetworkATP6V0E1
Atlas of Cancer Signalling NetworkATP6V0E1
Wikipedia pathwaysATP6V0E1
Orthology - Evolution
OrthoDB8992
GeneTree (enSembl)ENSG00000113732
Phylogenetic Trees/Animal Genes : TreeFamATP6V0E1
HOVERGENO15342
HOGENOMO15342
Homologs : HomoloGeneATP6V0E1
Homology/Alignments : Family Browser (UCSC)ATP6V0E1
Gene fusions - Rearrangements
Fusion : MitelmanATP6V0E1/USP15 [5q35.1/12q14.1]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V0E1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V0E1
dbVarATP6V0E1
ClinVarATP6V0E1
1000_GenomesATP6V0E1 
Exome Variant ServerATP6V0E1
ExAC (Exome Aggregation Consortium)ATP6V0E1 (select the gene name)
Genetic variants : HAPMAP8992
Genomic Variants (DGV)ATP6V0E1 [DGVbeta]
DECIPHER (Syndromes)5:172410763-172461900  ENSG00000113732
CONAN: Copy Number AnalysisATP6V0E1 
Mutations
ICGC Data PortalATP6V0E1 
TCGA Data PortalATP6V0E1 
Broad Tumor PortalATP6V0E1
OASIS PortalATP6V0E1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6V0E1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP6V0E1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ATP6V0E1
DgiDB (Drug Gene Interaction Database)ATP6V0E1
DoCM (Curated mutations)ATP6V0E1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V0E1 (select a term)
intoGenATP6V0E1
Cancer3DATP6V0E1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603931   
Orphanet
MedgenATP6V0E1
Genetic Testing Registry ATP6V0E1
NextProtO15342 [Medical]
TSGene8992
GENETestsATP6V0E1
Huge Navigator ATP6V0E1 [HugePedia]
snp3D : Map Gene to Disease8992
BioCentury BCIQATP6V0E1
ClinGenATP6V0E1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8992
Chemical/Pharm GKB GenePA25151
Clinical trialATP6V0E1
Miscellaneous
canSAR (ICR)ATP6V0E1 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6V0E1
EVEXATP6V0E1
GoPubMedATP6V0E1
iHOPATP6V0E1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 12:57:01 CET 2017

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