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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP5O Gene

protein-coding   GIFtS: 61
GCID: GC21M035275

ATP synthase, H+ transporting, mitochondrial F1 complex,...

 Explore 19 diseases affiliated with
ATP5O via our new
 Human Malady Compendium 
Biological research products
for ATP5O
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

Aliases
ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, O Subunit1 2     Human ATP Synthase OSCP Subunit, Oligomycin Sensitivity Conferring Protein11
ATPO1 2 3     ATP Synthase Subunit O, Mitochondrial2
OSCP1 2 3     Human ATP Synthase OSCP Subunit2
Oligomycin Sensitivity Conferral Protein2 3     Oligomycin Sensitivity Conferring Protein2

External Ids:    HGNC: 8501   Entrez Gene: 5392   Ensembl: ENSG000002418377   OMIM: 6008285   UniProtKB: P480473   

Export aliases for ATP5O gene to outside databases

Previous GC identifers: GC21M031853 GC21M034196 GC21M034197 GC21M034956 GC21M020753


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATP5O:
The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases
are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the
connector linking these two components and may be involved in transmission of conformational changes or proton
conductance. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ATPO_HUMAN, P48047
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(0) domain and the peripheric stalk, which acts as a stator to
hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements

Gene Wiki entry for ATP5O


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.1  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP5O gene promoter:
         ER-alpha   STAT1   AML1a   STAT1beta   MyoD   MIF-1   Tal-1beta   STAT1alpha   GATA-1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP5O promoter sequence

   Search SABiosciences Chromatin IP Primers for ATP5O

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP5O


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

Entrez Gene cytogenetic band: 21q22.11   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22
Nature(405: 311-319) cytogenetic band:   21q22.11
ATP5O Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP5O gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M035275:   GeneLoc Nature:405,311-319
Start:
35,275,757 bp from pter       20,852,405 bp from centromere
End:
35,288,284 bp from pter 20,864,736 bp from centromere
Size:
12,528 bases 12,332 bases
Orientation:
minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: X83218
genomic clones: P149C3


(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ATPO_HUMAN, P48047 (See protein sequence)
Recommended Name: ATP synthase subunit O, mitochondrial precursor  
Size: 213 amino acids; 23277 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) has three main subunits: a, b and c.
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)
Subcellular location: Mitochondrion (By similarity). Mitochondrion inner membrane (By similarity)
Secondary accessions: B2R4E2 Q5U042 Q6IBI2

Explore the universe of human proteins at neXtProt for ATP5O: NX_P48047

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P48047

  • ATP5O Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001688.1  
    ENSEMBL proteins: 
     ENSP00000393496   ENSP00000290299   ENSP00000407220   ENSP00000393211   ENSP00000403964  
    Reactome Protein details: P48047
    Human Recombinant Protein Products: 
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    Uscn Proteins for ATP5O

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000276mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IEA--
    GO:0005739mitochondrion IDA17851741
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005753mitochondrial proton-transporting ATP synthase complex NAS7490082
    GO:0005886plasma membrane IDA17851741


    ATP5O for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ATP5O for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR020781 ATPase_F1-cplx_OSCP/dsu_CS
     IPR026015 ATPase_OSCP/delta_N
     IPR000711 ATPase_F1-cplx_OSCP/dsu

    Graphical View of Domain Structure for InterPro Entry P48047

    ProtoNet protein and cluster: P48047

    1 Blocks protein family: IPB000711 H+-transporting two-sector ATPase

    UniProtKB/Swiss-Prot: ATPO_HUMAN, P48047
    Similarity: Belongs to the ATPase delta chain family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ATPO_HUMAN, P48047
    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(0) domain and the peripheric stalk, which acts as a stator to
    hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements

         Genatlas biochemistry entry for ATP5O:
    ATP synthase 5O H+ transporting,inner mitochondrial membrane (F0 segment) subunit,oligomycin sensitivity conferring
    protein,yeast OSCP homolog,complex V of oxidative phosphorylation (OXPHOS)

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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity NAS7490082
    GO:0005496steroid binding IEA--
    GO:0008144drug binding IDA15850986
    GO:0016887contributes to ATPase activity IDA12110673
    GO:0022857transmembrane transporter activity IC12110673


    ATP5O for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ATP5O:
     Synthetic lethal with c-Myc af 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    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.1.00
    Parkinson's disease0.61
    Electron Transport Chain0.76
    Oxidative phosphorylation0.52
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Alzheimer's disease0.43
    Oxidative phosphorylation0.63
    Huntington's disease0.40
    2Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    3Formation of ATP by chemiosmotic coupling
    Formation of ATP by chemiosmotic coupling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for ATP5O 
        Electron Transport Chain
    Oxidative phosphorylation

    4        Reactome Pathways for ATP5O
        Formation of ATP by chemiosmotic coupling
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport


    5         Kegg Pathways  (Kegg details for ATP5O):
        Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease
    Huntington's disease


    ATP5O for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP5O

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

    5/151 Interacting proteins for ATP5O (P480472, 3 ENSP000002902994) via UniProtKB, MINT, STRING, and/or I2D (see all 151)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IKBKGQ9Y6K92, 3MINT-48141 I2D: score=2 
    HIST1H2BCP628073I2D: score=1 
    HIST1H2BEP628073I2D: score=1 
    HIST1H2BFP628073I2D: score=1 
    HIST1H2BGP628073I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA12110673
    GO:0006754ATP biosynthetic process NAS17851741
    GO:0015992proton transport NAS17851741
    GO:0022904respiratory electron transport chain TAS--
    GO:0042776mitochondrial ATP synthesis coupled proton transport TAS--


    ATP5O for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ATP5O for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ATP5O

    4 HMDB Compounds for ATP5O    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--
    6 Novoseek chemical compound relationships for ATP5O gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atpo 97.2 36 11703366 (5), 9189013 (5), 7611213 (4), 17357290 (3) (see all 10)
    oligomycin 84.2 10 15254386 (3), 7490082 (1), 19748911 (1), 7750094 (1) (see all 6)
    dccd 61.4 2 1824914 (1)
    atp 54.6 17 7490082 (3), 11703366 (2), 15209393 (2), 15254386 (2) (see all 8)
    magnesium 16.1 2 10612085 (1), 8155482 (1)
    hydrogen 10.3 4 15254386 (3), 9860867 (1)

    Search CenterWatch for drugs/clinical trials and news about ATP5O / ATPO 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATP5O gene: 
    NM_001697.2  

    Unigene Cluster for ATP5O:

    ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit
    Hs.409140  [show with all ESTs]
    Unigene Representative Sequence: BF965152
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000431254 ENST00000491703(uc002ytm.1) ENST00000290299(uc002ytl.3)
    ENST00000417181 ENST00000418933 ENST00000429064 ENST00000495005 ENST00000496044
    ENST00000484627 ENST00000487374

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    Additional cDNA sequence: 

    AF088071.1 AK222608.1 AK222962.1 AK311796.1 BC021233.2 BC022865.1 BT019836.1 CR456822.1 
    DQ656021.2 DQ656022.2 DQ656023.2 S77356.1 X83218.1 X83219.1 

    24/34 DOTS entries (see all 34):

    DT.454060  DT.91660726  DT.100881255  DT.100881234  DT.99988690  DT.121141326  DT.99953574  DT.95074622 
    DT.91694444  DT.121141262  DT.121141334  DT.91761933  DT.100761455  DT.91722767  DT.95167199  DT.102834932 
    DT.121141264  DT.121141429  DT.121003541  DT.40243974  DT.91843983  DT.97760023  DT.100881232  DT.121141212 

    24/656 AceView cDNA sequences (see all 656):

    AW009832 AI144175 F26230 F29252 AU106036 AA319618 AJ713299 AW366398 
    BQ778434 AA157748 W67271 BU196144 AA095236 BE219700 AU100492 BG036513 
    AU076923 C04756 AI708746 AA948256 AI810855 AA380352 AI027470 W86855 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP5O expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTGTCAAGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ATP5O Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP5O

    SOURCE GeneReport for Unigene cluster: Hs.409140
        SABiosciences Expression via Pathway-Focused PCR Array including ATP5O: 
              Mitochondrial Energy Metabolism in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP5O

    (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)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ATP5O gene from 11/36 species (see all 36)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp5o1 , 5 ATP synthase, H+ transporting, mitochondrial F1 complex, more1, 5 79.81(n)1
    82.16(a)1
      16 (53.26 cM)5
    280801  NM_138597.21  NP_613063.11 
     916843985 
    chicken
    (Gallus gallus)
    Aves ATP5O1 ATP synthase, H+ transporting, mitochondrial F1 complex, more 66.99(n)
    64.11(a)
      418508  XM_416717.3  XP_416717.3 
    lizard
    (Anolis carolinensis)
    Reptilia ATP5O6
    --
    64(a)
    1 ↔ 1
    3(142771830-142781350)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.238782 Xenopus laevis transcribed sequence with weak similarity more 74.34(n)    BX845106.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp5o1 ATP synthase, H+ transporting, mitochondrial F1 complex, more 61.67(n)
    61.35(a)
      335191  NM_001003843.1  NP_001003843.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Oscp1 , 3 ATP synthesis coupled proton transport
    hydrogen-transporting more3
    Oligomycin sensitivity-conferring protein1
    49(a)3
    53.03(n)1
    49.43(a)1
      418451  NM_079634.21  NP_524358.21 
    worm
    (Caenorhabditis elegans)
    Secernentea F27C1.73
    atp-31
    ATPase3
    Protein ATP-31
    42(a)3
    47.62(n)1
    42.86(a)1
      I(5428781-5429624)3
    1721951  NM_001026250.31  NP_001021421.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATP5(YDR298C)4
    ATP51
    Subunit 5 of the stator stalk of mitochondrial F1F more4
    Atp5p1
    44.67(n)1
    35(a)1
      4(1058814-1058176)4
    8518921, 4  NP_010584.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATP51 ATP synthase subunit O 45.33(n)
    35.5(a)
      831186  NM_121348.3  NP_196849.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g06465001 hypothetical protein 45.62(n)
    33.84(a)
      4341660  NM_001064734.1  NP_001058199.2 


    ENSEMBL Gene Tree for ATP5O (if available)
    TreeFam Gene Tree for ATP5O (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP5O gene

    ATP5O for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for ATP5O
    PGOHUM00000247660 PGOHUM00000240499


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/282 NCBI SNPs in ATP5O are shown (see all 282    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1910395061,2
    --35275343(+) AAGTGC/GGGTGA 1 -- ds50010--------
    rs1827980181,2
    --35275349(+) GGTGAC/TGTCTC 1 -- ds50010--------
    rs1883153621,2
    --35275754(+) ACATAA/CTATGA 1 -- ds50010--------
    rs1425508501,2
    C,--35275835(+) TTAGAA/CAATCT 2 V F mis10--------
    rs2011080071,2
    --35275885(+) CAGACA/GTGTCA 2 T M mis10--------
    rs757016411,2
    C,F,--35275907(-) TGCGCA/GTTGGC 2 I V mis12Minor allele frequency- G:0.00WA NA 4552
    rs115522791,2
    C,--35275914(-) ATGATT/GGTGCG 2 /M /I mis11Minor allele frequency- G:0.00NA 4552
    rs1411257401,2
    C,--35275931(+) CAAGAT/CTGACG 2 /I /V mis11Minor allele frequency- C:0.00NA 4550
    rs1919604901,2
    C,--35275936(+) TTGACA/GGATCA 2 P L mis10--------
    rs1829750281,2
    C,--35275939(+) ACGGAC/TCAGTC 2 D G mis10--------

    HapMap Linkage Disequilibrium report for ATP5O (35275757 - 35288284 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ATP5O: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATP5O
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP5O

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ATP5O for disorders           About GeneDecksing

    OMIM gene information: 600828    OMIM disorders: --

    19 diseases for ATP5O:    About MalaCards
    d-2-hydroxyglutaric aciduria    2-hydroxyglutaric aciduria    autoimmune polyglandular syndrome type 2    complex v
    graves' disease    autoimmune thyroiditis    stomach cancer    diabetes mellitus
    goiter    hepatitis c    huntington's disease    parkinson's disease
    thyroiditis    osteoporosis    twinning    osteosarcoma
    hepatitis    malaria    prostatitis

    1 disease from the University of Copenhagen DISEASES database for ATP5O:
    D-2-hydroxyglutaric aciduria

    5 Novoseek disease relationships for ATP5O gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hashimotos thyroiditis 47 2 17357290 (1), 17558708 (1)
    graves disease 36.1 2 17357290 (1), 17558708 (1)
    autoimmunity 35 1 11703366 (1)
    hypothyroidism 28.1 1 16737004 (1)
    autoimmune diseases 24.5 1 11703366 (1)

    Human Genome Epidemiology (HuGE) Navigator: ATP5O (4 documents)

    Export disorders for ATP5O 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)
    About This Section

    PubMed articles for ATP5O gene, integrated from 9 sources (see all 49):
    (articles sorted by number of sources associating them with ATP5O)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2. (PubMed id 7490082)1, 2, 3, 9 Chen H.M.... Antonarakis S.E. (1995)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    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. (2004)
    4. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    5. Genetic variation in ATP5O is associated with skeletal muscle ATP50 mRNA expression and glucose uptake in young twins. (PubMed id 19274082)1, 9 RAPnn T....Ling C. (2009)
    6. IF(1) distribution in HepG2 cells in relation to ecto-F(0)F (1)ATPsynthase and calmodulin. (PubMed id 17851741)1, 9 Contessi S....Mavelli I. (2007)
    7. A functionally active human F1F0 ATPase can be purified by immunocapture from heart tissue and fibroblast cell lines. Subunit structure and activity studies. (PubMed id 12110673)1, 9 Aggeler R....Marusich M.F. (2002)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
    10. An important role for CDK2 in G1 to S checkpoint activation and DNA damage response in human embryonic stem cells. (PubMed id 21319273)1 Neganova I....Lako M. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 539 HGNC: 850 AceView: ATP5O Ensembl:ENSG00000241837 euGenes: HUgn539
    ECgene: ATP5O Kegg: 539 H-InvDB: ATP5O

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP5O Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP5O gene:
    Search GeneIP for patents involving ATP5O

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



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