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ATP5E (ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit)

Identity

Other aliasATPE
MC5DN3
HGNC (Hugo) ATP5E
LocusID (NCBI) 514
Atlas_Id 50525
Location 20q13.32  [Link to chromosome band 20q13]
Location_base_pair Starts at 59028678 and ends at 59032367 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP5E (20q13.32) / ATP5E (20q13.32)ATP5E (20q13.32) / DNAJB6 (7q36.3)ATP5E (20q13.32) / GARS (7p14.3)
ATP5E (20q13.32) / HBS1L (6q23.3)TTC28 (22q12.1) / ATP5E (20q13.32)

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)ATP5E   838
Cards
Entrez_Gene (NCBI)ATP5E  514  ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
AliasesATPE; MC5DN3
GeneCards (Weizmann)ATP5E
Ensembl hg19 (Hinxton)ENSG00000124172 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124172 [Gene_View]  chr20:59028678-59032367 [Contig_View]  ATP5E [Vega]
ICGC DataPortalENSG00000124172
TCGA cBioPortalATP5E
AceView (NCBI)ATP5E
Genatlas (Paris)ATP5E
WikiGenes514
SOURCE (Princeton)ATP5E
Genetics Home Reference (NIH)ATP5E
Genomic and cartography
GoldenPath hg38 (UCSC)ATP5E  -     chr20:59028678-59032367 -  20q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP5E  -     20q13.32   [Description]    (hg19-Feb_2009)
EnsemblATP5E - 20q13.32 [CytoView hg19]  ATP5E - 20q13.32 [CytoView hg38]
Mapping of homologs : NCBIATP5E [Mapview hg19]  ATP5E [Mapview hg38]
OMIM606153   614053   
Gene and transcription
Genbank (Entrez)AF052955 AF077045 AK026556 AK315493 BC001690
RefSeq transcript (Entrez)NM_006886
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP5E
Cluster EST : UnigeneHs.177530 [ NCBI ]
CGAP (NCI)Hs.177530
Alternative Splicing GalleryENSG00000124172
Gene ExpressionATP5E [ NCBI-GEO ]   ATP5E [ EBI - ARRAY_EXPRESS ]   ATP5E [ SEEK ]   ATP5E [ MEM ]
Gene Expression Viewer (FireBrowse)ATP5E [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)514
GTEX Portal (Tissue expression)ATP5E
Protein : pattern, domain, 3D structure
UniProt/SwissProtP56381   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP56381  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP56381
Splice isoforms : SwissVarP56381
PhosPhoSitePlusP56381
Domains : Interpro (EBI)ATP_synth_F1_esu_mt   
Domain families : Pfam (Sanger)ATP-synt_Eps (PF04627)   
Domain families : Pfam (NCBI)pfam04627   
Conserved Domain (NCBI)ATP5E
DMDM Disease mutations514
Blocks (Seattle)ATP5E
SuperfamilyP56381
Human Protein AtlasENSG00000124172
Peptide AtlasP56381
HPRD05856
IPIIPI00215878   
Protein Interaction databases
DIP (DOE-UCLA)P56381
IntAct (EBI)P56381
FunCoupENSG00000124172
BioGRIDATP5E
STRING (EMBL)ATP5E
ZODIACATP5E
Ontologies - Pathways
QuickGOP56381
Ontology : AmiGOmitochondrial proton-transporting ATP synthase complex, catalytic core F(1)  mitochondrial proton-transporting ATP synthase complex  mitochondrial matrix  ATP biosynthetic process  ATPase activity  transmembrane transporter activity  mitochondrial ATP synthesis coupled proton transport  mitochondrial ATP synthesis coupled proton transport  proton-transporting ATP synthase activity, rotational mechanism  ATP hydrolysis coupled cation transmembrane transport  
Ontology : EGO-EBImitochondrial proton-transporting ATP synthase complex, catalytic core F(1)  mitochondrial proton-transporting ATP synthase complex  mitochondrial matrix  ATP biosynthetic process  ATPase activity  transmembrane transporter activity  mitochondrial ATP synthesis coupled proton transport  mitochondrial ATP synthesis coupled proton transport  proton-transporting ATP synthase activity, rotational mechanism  ATP hydrolysis coupled cation transmembrane transport  
Pathways : KEGGOxidative phosphorylation    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkATP5E
Atlas of Cancer Signalling NetworkATP5E
Wikipedia pathwaysATP5E
Orthology - Evolution
OrthoDB514
GeneTree (enSembl)ENSG00000124172
Phylogenetic Trees/Animal Genes : TreeFamATP5E
HOVERGENP56381
HOGENOMP56381
Homologs : HomoloGeneATP5E
Homology/Alignments : Family Browser (UCSC)ATP5E
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP5E [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP5E
dbVarATP5E
ClinVarATP5E
1000_GenomesATP5E 
Exome Variant ServerATP5E
ExAC (Exome Aggregation Consortium)ATP5E (select the gene name)
Genetic variants : HAPMAP514
Genomic Variants (DGV)ATP5E [DGVbeta]
DECIPHERATP5E [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP5E 
Mutations
ICGC Data PortalATP5E 
TCGA Data PortalATP5E 
Broad Tumor PortalATP5E
OASIS PortalATP5E [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP5E  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP5E
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ATP5E
DgiDB (Drug Gene Interaction Database)ATP5E
DoCM (Curated mutations)ATP5E (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP5E (select a term)
intoGenATP5E
Cancer3DATP5E(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606153    614053   
Orphanet19800   
MedgenATP5E
Genetic Testing Registry ATP5E
NextProtP56381 [Medical]
TSGene514
GENETestsATP5E
Huge Navigator ATP5E [HugePedia]
snp3D : Map Gene to Disease514
BioCentury BCIQATP5E
ClinGenATP5E
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD514
Chemical/Pharm GKB GenePA25128
Clinical trialATP5E
Miscellaneous
canSAR (ICR)ATP5E (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP5E
EVEXATP5E
GoPubMedATP5E
iHOPATP5E
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:07:10 CEST 2017

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