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ATP5E Gene

protein-coding   GIFtS: 58
GCID: GC20M057600

ATP Synthase, H+ Transporting, Mitochondrial F1 Complex,...

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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
ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Epsilon
Subunit1 2
     H(+)-Transporting Two-Sector ATPase2
MC5DN32 5     Mitochondrial ATP Synthase Epsilon Chain2
ATPE2     Mitochondrial ATPase2
F(0)F(1)-ATPase2     ATPase Subunit Epsilon3
ATP Synthase Subunit Epsilon, Mitochondrial2     

External Ids:    HGNC: 8381   Entrez Gene: 5142   Ensembl: ENSG000001241727   OMIM: 6061535   UniProtKB: P563813   

Export aliases for ATP5E gene to outside databases

Previous GC identifers: GC20M057332 GC20M058239 GC20M058289 GC20M057037 GC20M054390


(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 ATP5E Gene:
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis,
utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP
synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the
membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP
synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry
of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main
subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are
located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from
the upstream gene SLMO2.(provided by RefSeq, Mar 2011)

GeneCards Summary for ATP5E Gene:
ATP5E (ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit) is a protein-coding gene. Diseases associated with ATP5E include mitochondrial complex v deficiency, nuclear type 3, and mitochondrial complex v deficiency. GO annotations related to this gene include ATPase activity and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP5EP2.

UniProtKB/Swiss-Prot: ATP5E_HUMAN, P56381
Function: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the
presence of a proton gradient across the membrane which is generated by electron transport complexes of the
respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous
catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a
peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary
mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the
central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding
alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (By
similarity)

Gene Wiki entry for ATP5E 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:
NC_000020.11  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP5E gene promoter:
         SRF   C/EBPbeta   p53   SRF (504 AA)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP5E promoter sequence
   Search Chromatin IP Primers for ATP5E

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP5E


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

Entrez Gene cytogenetic band: 20q13.32   Ensembl cytogenetic band:  20q13.32   HGNC cytogenetic band: 20q13.3

ATP5E Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP5E gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M057600:  view genomic region     (about GC identifiers)

Start:
57,600,522 bp from pter      End:
57,607,437 bp from pter
Size:
6,916 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ATP5E_HUMAN, P56381 (See protein sequence)
Recommended Name: ATP synthase subunit epsilon, mitochondrial  
Size: 51 amino acids; 5780 Da
Subunit: F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel.
CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) seems to have nine subunits: a,
b, c, d, e, f, g, F6 and 8 (or A6L). Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E,
ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By
similarity)
Secondary accessions: B2RDD0 E1P5H6 Q53XU6

Explore the universe of human proteins at neXtProt for ATP5E: NX_P56381

Explore proteomics data for ATP5E at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys21
  • Modification sites at PhosphoSitePlus

  • See ATP5E Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_008817.1  
    ENSEMBL proteins: 
     ENSP00000243997   ENSP00000379023   ENSP00000379019  
    Reactome Protein details: P56381

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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:
    FATP: Mitochondrial respiratory chain complex / Complex V
    F1ATP: ATPases / F-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: epsilon
    F-type ATPase

    1 InterPro protein domain:
     IPR006721 ATPase_F1-cplx_esu_mt

    Graphical View of Domain Structure for InterPro Entry P56381

    ProtoNet protein and cluster: P56381

    1 Blocks protein domain: IPB006721 Mitochondrial ATP synthase epsilon chain

    UniProtKB/Swiss-Prot: ATP5E_HUMAN, P56381
    Similarity: Belongs to the eukaryotic ATPase epsilon family


    ATP5E for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATP5E_HUMAN, P56381
    Function: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the
    presence of a proton gradient across the membrane which is generated by electron transport complexes of the
    respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous
    catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a
    peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary
    mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the
    central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding
    alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (By
    similarity)

         Genatlas biochemistry entry for ATP5E:
    ATP synthase H+ transporting,mitochondrial matrix (F1 segment) subunit 5,epsilon subunit,complex V of oxidative
    phosphorylation (OXPHOS)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016887contributes to ATPase activity IDA12110673
    GO:0022857transmembrane transporter activity IC12110673
    GO:0046933proton-transporting ATP synthase activity, rotational mechanism IEA--
    GO:0046961proton-transporting ATPase activity, rotational mechanism IEA--
         
    ATP5E for ontologies           About GeneDecksing


    Animal Models:
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    hsa-mir-3181 (MIRT052805), hsa-mir-99a-5p (MIRT048667), hsa-mir-615-3p (MIRT039871)

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    1 qRT-PCR Assays for microRNA that regulate ATP5E:
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    Inhib. RNA
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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
    ATP5E_HUMAN, P56381: Mitochondrion. Mitochondrion inner membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    chloroplast3
    nucleus2
    cytosol1
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000275mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) IEA--
    GO:0005753mitochondrial proton-transporting ATP synthase complex IDA12110673
    GO:0005759mitochondrial matrix TAS--

    ATP5E for ontologies           About GeneDecksing


    (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 ATP5E About    
    See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    Parkinson's disease0.57
    Electron Transport Chain0.75
    Oxidative phosphorylation0.51
    The citric acid (TCA) cycle and respiratory electron transport0.71
    Huntington's disease0.45
    Oxidative phosphorylation0.64
    Formation of ATP by chemiosmotic coupling0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Alzheimer's disease
    Alzheimer's disease0.44
    4Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics
    Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ATP5E
        Oxidative phosphorylation
    Electron Transport Chain

    1 Reactome Pathway for ATP5E
        Formation of ATP by chemiosmotic coupling

    1 PharmGKB Pathway for ATP5E
        Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics

    5 Kegg Pathways  (Kegg details for ATP5E):
        Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease
    Huntington's disease


    ATP5E for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP5E
    Interactions:

        Search GeneGlobe Interaction Network for ATP5E

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

    Selected Interacting proteins for ATP5E (ENSP000002439974) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP6V0D1ENSP000002909494STRING: ENSP00000290949
    ATP6V0D2ENSP000002853934STRING: ENSP00000285393
    ATP6V1DENSP000002164424STRING: ENSP00000216442
    ATP6V1FENSP000002492894STRING: ENSP00000249289
    ATP6V1HENSP000003525224STRING: ENSP00000352522
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA12110673
    GO:0015986ATP synthesis coupled proton transport ----
    GO:0022904respiratory electron transport chain TAS--
    GO:0042776mitochondrial ATP synthesis coupled proton transport TAS--
    GO:0044237cellular metabolic process TAS--

    ATP5E for ontologies           About GeneDecksing



    (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 

    Browse Tocris compounds for ATP5E

    4 HMDB Compounds for ATP5E    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--

    10 Novoseek inferred chemical compound relationships for ATP5E gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oligomycin 81.8 10 19000650 (2), 2143151 (1), 2161214 (1), 9916153 (1) (see all 8)
    atp 63.3 15 2143151 (2), 9030519 (1), 8276114 (1), 7721821 (1) (see all 11)
    rotenone 61.9 2 8276114 (1), 10549166 (1)
    fccp 59.7 1 9030519 (1)
    cdp choline 53.9 2 8709678 (1), 17171187 (1)
    2,4-dinitrophenol 41.4 1 9030519 (1)
    lactate 21.9 5 1832835 (1), 7787252 (1), 19639598 (1), 2375763 (1) (see all 5)
    adenine 19.2 1 8726359 (1)
    leucine 18.8 3 8190310 (1), 8476414 (1), 7957931 (1)
    oxygen 13.4 1 16268759 (1)



    ATP5E for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ATP5E gene: 
    NM_006886.3  

    Unigene Cluster for ATP5E:

    ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
    Hs.177530  [show with all ESTs]
    Unigene Representative Sequence: BG741774
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000243997(uc002yal.3) ENST00000395663 ENST00000395659

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    Additional mRNA sequence: 

    AF052955.1 AF077045.1 AK026556.1 AK315493.1 BC001690.1 BC003671.1 BC070167.1 BC105811.1 
    BT007293.1 

    Selected DOTS entries (see all 38):

    DT.449876  DT.100686215  DT.101987288  DT.99986093  DT.100693858  DT.100686219  DT.442802  DT.100686212 
    DT.75128728  DT.120805402  DT.120805398  DT.120780342  DT.95324298  DT.100686217  DT.120805471  DT.120805485 
    DT.120780343  DT.120805418  DT.95207918  DT.120805422  DT.120805449  DT.120805456  DT.120805467  DT.92448286 

    Selected AceView cDNA sequences (see all 926):

    W95052 AA644133 AA442417 AV728046 AA767760 AA164996 CR595852 BU683033 
    CA441920 AW189499 BU956928 BM841097 AI378443 F32063 BM802711 NM_006886 
    BI962769 AW275200 BX421626 AI066527 AI687216 BM671297 W68387 BU579660 

    GeneLoc Exon Structure


    (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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    ATP5E expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATGGCAGA
    ATP5E Expression
    About this image

    ATP5E Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP5E Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.177530

    UniProtKB/Swiss-Prot: ATP5E_HUMAN, P56381
    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 chordates.

    Orthologs for ATP5E gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp5e5 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit less   --   2 (97.95 cM) 174461072 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    88(a)
    1 → many
    GL343770.1(169473-172052)
    zebrafish
    (Danio rerio)
    Actinopterygii atp5e6
    ATP synthase, H+ transporting, mitochondrial F1 co...
    65(a)
    1 → many
    6(49845154-49853806) ENSDARG00000095897


    ENSEMBL Gene Tree for ATP5E (if available)
    TreeFam Gene Tree for ATP5E (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP5E gene
    ATP5EP22  
    1 SIMAP similar gene for ATP5E using alignment to 1 protein entry:     ATP5E_HUMAN:
    ATP5EP2

    ATP5E for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ATP5E
    PGOHUM00000246018


    (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 ATP5E (see all 115)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0662114
    Mitochondrial complex V deficiency, nuclear 3 (MC5DN3)4--see VAR_0662112 Y C mis40--------
    rs1506299381,2
    C--57573759(+) ATTTAC/TTGACA 1 -- ut310--------
    rs1908608151,2
    --57573774(+) CAATTC/TATGAA 1 -- ut310--------
    rs1822460151,2
    --57573800(+) TTTTTC/TCCCAT 1 -- ut310--------
    rs115393951,2
    C--57573836(-) GCACAT/CGTTAT 1 -- ut31 ese32Minor allele frequency- C:0.00NA 4
    rs1398023561,2
    C--57573911(+) AAATGC/TAAGTT 1 -- int10--------
    rs1457281131,2
    C--57574062(+) TAGTCA/GAGCAG 1 -- int10--------
    rs1451378831,2
    C--57574088(+) GTAAA-/AGTAAACA 1 -- int10--------
    rs1871302841,2
    --57574125(+) TTGCCC/TTTAAA 1 -- int10--------
    rs1513531,2
    C,F,A--57574337(+) AAAACC/AACCCA 1 -- int115Minor allele frequency- A:0.28EA NA CSA WA 2224

    HapMap Linkage Disequilibrium report for ATP5E (57600522 - 57607437 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ATP5E: --
    Human Gene Mutation Database (HGMD): ATP5E
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP5E
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP5E

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606153   
    OMIM disorders: 614053  
    UniProtKB/Swiss-Prot: ATP5E_HUMAN, P56381
  • Mitochondrial complex V deficiency, nuclear 3 (MC5DN3) [MIM:614053]: A mitochondrial disorder with
    heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth
    retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and
    cerebrospinal fluid. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for ATP5E (see all 22):    
    About MalaCards
    mitochondrial complex v deficiency, nuclear type 3    mitochondrial complex v deficiency    adult neuronal ceroid lipofuscinosis    renal oncocytoma
    mitochondrial complex v deficiency, nuclear type 1    neuronal ceroid lipofuscinosis    lactic acidosis    epididymitis
    mitochondrial disorders    hypotonia    intrahepatic cholangiocarcinoma    cholangiocarcinoma
    huntington's disease    ischemia    myopathy    cerebritis
    parkinson's disease    alzheimer's disease    neuronitis    multiple myeloma


    ATP5E for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    5 Novoseek inferred disease relationships for ATP5E gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leigh syndrome 53.7 1 8190310 (1)
    mitochondrial diseases 47.5 1 16581217 (1)
    cerebral edema 34.5 2 8709678 (1), 17171187 (1)
    ischemia 4.45 1 10536688 (1)
    cancer 0 1 17624334 (1)

    Genetic Association Database (GAD): ATP5E
    Human Genome Epidemiology (HuGE) Navigator: ATP5E (1 document)

    Export disorders for ATP5E 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 ATP5E gene, integrated from 10 sources (see all 91):
    (articles sorted by number of sources associating them with ATP5E)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, characterization and mapping of the human ATP5E gene, identification of pseudogene ATP5EP1, and definition of the ATP5E motif. (PubMed id 10727396)1, 2, 3 Tu Q....Zhao S. (Biochem. J. 2000)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. 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)
    4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    5. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    6. Cell surface F1/FO ATP synthase contributes to interstitial flow-mediated development of the acidic microenvironment in tumor tissues. (PubMed id 24067918)1 Kawai Y....Ohhashi T. (Am. J. Physiol., Cell Physiol. 2013)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    9. Knockdown of F1 epsilon subunit decreases mitochondrial content of ATP synthase and leads to accumulation of subunit c. (PubMed id 20026007)1 HavlA-ckovA! V....Houstek J. (Biochim. Biophys. Acta 2010)
    10. Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. (PubMed id 20566710)2 Mayr J.A.... Houstek J. (Hum. Mol. Genet. 2010)

    (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: 514 HGNC: 838 AceView: ATP5EandC20orf45 Ensembl:ENSG00000124172 euGenes: HUgn514
    ECgene: ATP5E Kegg: 514 H-InvDB: ATP5E

    (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 ATP5E 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 ATP5E gene:
    Search GeneIP for patents involving ATP5E

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



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