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ATP6V1E1 (ATPase H+ transporting V1 subunit E1)

Identity

Alias_namesATP6E
ATP6V1E
ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD
ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1
ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
Alias_symbol (synonym)P31
Vma4
ATP6E2
Other aliasARCL2C
HGNC (Hugo) ATP6V1E1
LocusID (NCBI) 529
Atlas_Id 60645
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 17592136 and ends at 17628822 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP6V1E1 (22q11.21) / ATP6V1E1 (22q11.21)ATP6V1E1 (22q11.21) / IL1RN (2q13)ATP6V1E1 (22q11.21) / NUDT1 (7p22.3)
LARGE (22q12.3) / ATP6V1E1 (22q11.21)

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)ATP6V1E1   857
Cards
Entrez_Gene (NCBI)ATP6V1E1  529  ATPase H+ transporting V1 subunit E1
AliasesARCL2C; ATP6E; ATP6E2; ATP6V1E; 
P31; Vma4
GeneCards (Weizmann)ATP6V1E1
Ensembl hg19 (Hinxton)ENSG00000131100 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131100 [Gene_View]  chr22:17592136-17628822 [Contig_View]  ATP6V1E1 [Vega]
ICGC DataPortalENSG00000131100
TCGA cBioPortalATP6V1E1
AceView (NCBI)ATP6V1E1
Genatlas (Paris)ATP6V1E1
WikiGenes529
SOURCE (Princeton)ATP6V1E1
Genetics Home Reference (NIH)ATP6V1E1
Genomic and cartography
GoldenPath hg38 (UCSC)ATP6V1E1  -     chr22:17592136-17628822 -  22q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP6V1E1  -     22q11.21   [Description]    (hg19-Feb_2009)
EnsemblATP6V1E1 - 22q11.21 [CytoView hg19]  ATP6V1E1 - 22q11.21 [CytoView hg38]
Mapping of homologs : NCBIATP6V1E1 [Mapview hg19]  ATP6V1E1 [Mapview hg38]
OMIM108746   617402   
Gene and transcription
Genbank (Entrez)AI565049 AK294623 AK312394 AK315941 AW406069
RefSeq transcript (Entrez)NM_001039366 NM_001039367 NM_001696
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP6V1E1
Cluster EST : UnigeneHs.517338 [ NCBI ]
CGAP (NCI)Hs.517338
Alternative Splicing GalleryENSG00000131100
Gene ExpressionATP6V1E1 [ NCBI-GEO ]   ATP6V1E1 [ EBI - ARRAY_EXPRESS ]   ATP6V1E1 [ SEEK ]   ATP6V1E1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V1E1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)529
GTEX Portal (Tissue expression)ATP6V1E1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP36543   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP36543  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP36543
Splice isoforms : SwissVarP36543
PhosPhoSitePlusP36543
Domains : Interpro (EBI)ATPase_V1/A1-cplx_esu   
Domain families : Pfam (Sanger)vATP-synt_E (PF01991)   
Domain families : Pfam (NCBI)pfam01991   
Conserved Domain (NCBI)ATP6V1E1
DMDM Disease mutations529
Blocks (Seattle)ATP6V1E1
SuperfamilyP36543
Human Protein AtlasENSG00000131100
Peptide AtlasP36543
HPRD00163
IPIIPI00003856   IPI00853433   IPI00719806   IPI00719366   
Protein Interaction databases
DIP (DOE-UCLA)P36543
IntAct (EBI)P36543
FunCoupENSG00000131100
BioGRIDATP6V1E1
STRING (EMBL)ATP6V1E1
ZODIACATP6V1E1
Ontologies - Pathways
QuickGOP36543
Ontology : AmiGOprotein binding  mitochondrion  lysosomal membrane  endosome  cytosol  cytosol  microvillus  insulin receptor signaling pathway  hydrogen-exporting ATPase activity, phosphorylative mechanism  ATP hydrolysis coupled proton transport  proton transport  regulation of macroautophagy  apical plasma membrane  proton-transporting two-sector ATPase complex  proton-transporting two-sector ATPase complex, catalytic domain  transferrin transport  ion transmembrane transport  proton-transporting ATPase activity, rotational mechanism  ATPase binding  extracellular exosome  phagosome acidification  
Ontology : EGO-EBIprotein binding  mitochondrion  lysosomal membrane  endosome  cytosol  cytosol  microvillus  insulin receptor signaling pathway  hydrogen-exporting ATPase activity, phosphorylative mechanism  ATP hydrolysis coupled proton transport  proton transport  regulation of macroautophagy  apical plasma membrane  proton-transporting two-sector ATPase complex  proton-transporting two-sector ATPase complex, catalytic domain  transferrin transport  ion transmembrane transport  proton-transporting ATPase activity, rotational mechanism  ATPase binding  extracellular exosome  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 NetworkATP6V1E1
Atlas of Cancer Signalling NetworkATP6V1E1
Wikipedia pathwaysATP6V1E1
Orthology - Evolution
OrthoDB529
GeneTree (enSembl)ENSG00000131100
Phylogenetic Trees/Animal Genes : TreeFamATP6V1E1
HOVERGENP36543
HOGENOMP36543
Homologs : HomoloGeneATP6V1E1
Homology/Alignments : Family Browser (UCSC)ATP6V1E1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V1E1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V1E1
dbVarATP6V1E1
ClinVarATP6V1E1
1000_GenomesATP6V1E1 
Exome Variant ServerATP6V1E1
ExAC (Exome Aggregation Consortium)ATP6V1E1 (select the gene name)
Genetic variants : HAPMAP529
Genomic Variants (DGV)ATP6V1E1 [DGVbeta]
DECIPHERATP6V1E1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP6V1E1 
Mutations
ICGC Data PortalATP6V1E1 
TCGA Data PortalATP6V1E1 
Broad Tumor PortalATP6V1E1
OASIS PortalATP6V1E1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6V1E1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP6V1E1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ATP6V1E1
DgiDB (Drug Gene Interaction Database)ATP6V1E1
DoCM (Curated mutations)ATP6V1E1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V1E1 (select a term)
intoGenATP6V1E1
Cancer3DATP6V1E1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM108746    617402   
Orphanet
MedgenATP6V1E1
Genetic Testing Registry ATP6V1E1
NextProtP36543 [Medical]
TSGene529
GENETestsATP6V1E1
Target ValidationATP6V1E1
Huge Navigator ATP6V1E1 [HugePedia]
snp3D : Map Gene to Disease529
BioCentury BCIQATP6V1E1
ClinGenATP6V1E1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD529
Chemical/Pharm GKB GenePA25158
Clinical trialATP6V1E1
Miscellaneous
canSAR (ICR)ATP6V1E1 (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6V1E1
EVEXATP6V1E1
GoPubMedATP6V1E1
iHOPATP6V1E1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:02:04 CEST 2017

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