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ATP5F1E (ATP synthase F1 subunit epsilon)

Identity

Other aliasATP5E
ATPE
MC5DN3
HGNC (Hugo) ATP5F1E
LocusID (NCBI) 514
Atlas_Id 57284
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 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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


External links

Nomenclature
HGNC (Hugo)ATP5F1E   838
Cards
Entrez_Gene (NCBI)ATP5F1E  514  ATP synthase F1 subunit epsilon
AliasesATP5E; ATPE; MC5DN3
GeneCards (Weizmann)ATP5F1E
Ensembl hg19 (Hinxton)ENSG00000124172 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124172 [Gene_View]  ENSG00000124172 [Sequence]  chr20:59028678-59032367 [Contig_View]  ATP5F1E [Vega]
ICGC DataPortalENSG00000124172
TCGA cBioPortalATP5F1E
AceView (NCBI)ATP5F1E
Genatlas (Paris)ATP5F1E
WikiGenes514
SOURCE (Princeton)ATP5F1E
Genetics Home Reference (NIH)ATP5F1E
Genomic and cartography
GoldenPath hg38 (UCSC)ATP5F1E  -     chr20:59028678-59032367 -  20q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP5F1E  -     20q13.32   [Description]    (hg19-Feb_2009)
EnsemblATP5F1E - 20q13.32 [CytoView hg19]  ATP5F1E - 20q13.32 [CytoView hg38]
Mapping of homologs : NCBIATP5F1E [Mapview hg19]  ATP5F1E [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)ATP5F1E
Cluster EST : UnigeneHs.177530 [ NCBI ]
CGAP (NCI)Hs.177530
Alternative Splicing GalleryENSG00000124172
Gene ExpressionATP5F1E [ NCBI-GEO ]   ATP5F1E [ EBI - ARRAY_EXPRESS ]   ATP5F1E [ SEEK ]   ATP5F1E [ MEM ]
Gene Expression Viewer (FireBrowse)ATP5F1E [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)514
GTEX Portal (Tissue expression)ATP5F1E
Human Protein AtlasENSG00000124172-ATP5F1E [pathology]   [cell]   [tissue]
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    ATP_synth_F1_esu_sf_mt   
Domain families : Pfam (Sanger)ATP-synt_Eps (PF04627)   
Domain families : Pfam (NCBI)pfam04627   
Conserved Domain (NCBI)ATP5F1E
DMDM Disease mutations514
Blocks (Seattle)ATP5F1E
SuperfamilyP56381
Human Protein Atlas [tissue]ENSG00000124172-ATP5F1E [tissue]
Peptide AtlasP56381
IPIIPI00215878   
Protein Interaction databases
DIP (DOE-UCLA)P56381
IntAct (EBI)P56381
FunCoupENSG00000124172
BioGRIDATP5F1E
STRING (EMBL)ATP5F1E
ZODIACATP5F1E
Ontologies - Pathways
QuickGOP56381
Ontology : AmiGOmitochondrial proton-transporting ATP synthase complex, catalytic core F(1)  mitochondrial inner membrane  mitochondrial proton-transporting ATP synthase complex  mitochondrial matrix  ATP biosynthetic process  ATPase activity  ATPase activity  transmembrane transporter activity  cristae formation  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 inner membrane  mitochondrial proton-transporting ATP synthase complex  mitochondrial matrix  ATP biosynthetic process  ATPase activity  ATPase activity  transmembrane transporter activity  cristae formation  mitochondrial ATP synthesis coupled proton transport  proton-transporting ATP synthase activity, rotational mechanism  ATP hydrolysis coupled cation transmembrane transport  
NDEx NetworkATP5F1E
Atlas of Cancer Signalling NetworkATP5F1E
Wikipedia pathwaysATP5F1E
Orthology - Evolution
OrthoDB514
GeneTree (enSembl)ENSG00000124172
Phylogenetic Trees/Animal Genes : TreeFamATP5F1E
HOVERGENP56381
HOGENOMP56381
Homologs : HomoloGeneATP5F1E
Homology/Alignments : Family Browser (UCSC)ATP5F1E
Gene fusions - Rearrangements
Fusion : QuiverATP5F1E
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP5F1E [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP5F1E
dbVarATP5F1E
ClinVarATP5F1E
1000_GenomesATP5F1E 
Exome Variant ServerATP5F1E
ExAC (Exome Aggregation Consortium)ENSG00000124172
GNOMAD BrowserENSG00000124172
Varsome BrowserATP5F1E
Genetic variants : HAPMAP514
Genomic Variants (DGV)ATP5F1E [DGVbeta]
DECIPHERATP5F1E [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP5F1E 
Mutations
ICGC Data PortalATP5F1E 
TCGA Data PortalATP5F1E 
Broad Tumor PortalATP5F1E
OASIS PortalATP5F1E [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDATP5F1E
BioMutasearch ATP5F1E
DgiDB (Drug Gene Interaction Database)ATP5F1E
DoCM (Curated mutations)ATP5F1E (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP5F1E (select a term)
intoGenATP5F1E
Cancer3DATP5F1E(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606153    614053   
Orphanet
DisGeNETATP5F1E
MedgenATP5F1E
Genetic Testing Registry ATP5F1E
NextProtP56381 [Medical]
TSGene514
GENETestsATP5F1E
Target ValidationATP5F1E
Huge Navigator ATP5F1E [HugePedia]
snp3D : Map Gene to Disease514
BioCentury BCIQATP5F1E
ClinGenATP5F1E
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD514
Chemical/Pharm GKB GenePA25128
Clinical trialATP5F1E
Miscellaneous
canSAR (ICR)ATP5F1E (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP5F1E
EVEXATP5F1E
GoPubMedATP5F1E
iHOPATP5F1E
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 10:53:02 CET 2018

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