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ATP5O Gene

protein-coding   GIFtS: 65
GCID: GC21M035275

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

  See ATP5O-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, O Subunit1 2     OSCP2 3
Oligomycin Sensitivity Conferring Protein1 2     Human ATP Synthase OSCP Subunit, Oligomycin Sensitivity Conferring Protein11
Oligomycin Sensitivity Conferral Protein2 3     ATP Synthase Subunit O, Mitochondrial2
ATPO2 3     Human ATP Synthase OSCP Subunit2

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

Export aliases for ATP5O gene to outside databases

Previous GC identifers: GC21M031853 GC21M034196 GC21M034197 GC21M034956 GC21M020753


(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 ATP5O Gene:
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)

GeneCards Summary for ATP5O Gene:
ATP5O (ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit) is a protein-coding gene. Diseases associated with ATP5O include autoimmune polyglandular syndrome type 2, and d-2-hydroxyglutaric aciduria. GO annotations related to this gene include drug binding and transporter activity. An important paralog of this gene is ENSG00000249209.

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 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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence at NCBI GenBank:
NC_000021.8  NC_018932.2  NT_011512.12  
Regulatory elements:
   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 Chromatin IP Primers for ATP5O

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
Secondary accessions: B2R4E2 Q5U042 Q6IBI2

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

Explore proteomics data for ATP5O at MOPED

Post-translational modifications: 

  • Acetylation at Lys-162 decreases ATP production. Deacetylated by SIRT31
  • Ubiquitination2 at Lys51, Lys54, Lys60, Lys73, Lys84, Lys88, Lys90, Lys98, Lys158, Lys162,
                                 Lys172, Lys176, Lys192, Lys199
  • Modification sites at PhosphoSitePlus

  • See ATP5O Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001688.1  
    ENSEMBL proteins: 
     ENSP00000393496   ENSP00000290299   ENSP00000407220   ENSP00000393211   ENSP00000403964  
    Reactome Protein details: P48047

    ATP5O Human Recombinant Protein Products:

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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

    3 InterPro protein domains:
     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 domain: IPB000711 H+-transporting two-sector ATPase

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


    Find genes that share domains with ATP5O           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: 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)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity NAS7490082
    GO:0008144drug binding IDA15850986
    GO:0016887contributes to ATPase activity IDA12110673
    GO:0022857transmembrane transporter activity IC12110673
    GO:0046933proton-transporting ATP synthase activity, rotational mechanism IEA--
         
    Find genes that share ontologies with ATP5O           About GenesLikeMe


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP5O
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    miRNA
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    hsa-mir-182-5p (MIRT047203), hsa-mir-877-5p (MIRT037315), hsa-mir-30e-5p (MIRT044151)

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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
    ATPO_HUMAN, P48047: Mitochondrion (By similarity). Mitochondrion inner membrane (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane5
    chloroplast2
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA12110673
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005753mitochondrial proton-transporting ATP synthase complex NAS7490082
    GO:0005886plasma membrane IDA17851741

    Find genes that share ontologies with ATP5O           About GenesLikeMe


    (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 ATP5O 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


    Find genes that share SuperPaths with ATP5O           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ATP5O
        Oxidative phosphorylation
    Electron Transport Chain


    1 Reactome Pathway for ATP5O
        Formation of ATP by chemiosmotic coupling


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

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP5O: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ATP5O

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

    Selected Interacting proteins for ATP5O (P480472, 3 ENSP000002902994) via UniProtKB, MINT, STRING, and/or I2D (see all 197)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IKBKGQ9Y6K92, 3MINT-48141 I2D: score=2 
    ENSG00000228321P013753, ENSP000003928584I2D: score=1 STRING: ENSP00000392858
    TNFP013753, ENSP000003986984I2D: score=1 STRING: ENSP00000398698
    ENSG00000204490P013753I2D: score=1 
    ENSG00000206439P013753I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA12110673
    GO:0006754ATP biosynthetic process NAS17851741
    GO:0015986ATP synthesis coupled proton transport ----
    GO:0015992proton transport NAS17851741
    GO:0022904respiratory electron transport chain TAS--

    Find genes that share ontologies with ATP5O           About GenesLikeMe



    (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 ATP5O (ATPO)

    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 inferred 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)



    Find genes that share compounds with ATP5O           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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 mRNA 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 

    Selected 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 

    Selected AceView cDNA sequences (see all 656):

    C04756 BE464988 AV716810 CD676946 AA380352 BM849578 AW009832 AI582263 
    BG574931 AI709071 AA095236 AA948256 AW054916 AJ713299 AU076923 BG036513 
    AI810855 NM_001697 BM832257 BM664584 BI495184 BQ671408 F26230 AI707671 

    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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    ATP5O expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTGTCAAGA
    ATP5O Expression
    About this image

    ATP5O Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP5O Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.409140
        Pathway & Disease-focused RT2 Profiler PCR Array including ATP5O: 
              Mitochondrial Energy Metabolism in human mouse rat

    Primer
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    In Situ
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    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP5O gene from Selected species (see all 24)    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_416717.4  XP_416717.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    56(a)
    1 → many
    3(142770765-142781537)
    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_079634.31  NP_524358.21 
    worm
    (Caenorhabditis elegans)
    Secernentea F27C1.73
    atp-31
    ATPase3
    atp-31
    42(a)3
    47.62(n)1
    42.86(a)1
      I(5428781-5429624)3
    1721951  NM_001026250.41  NP_001021421.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATP5(YDR298C)4
    ATP51
    Subunit 5 of the stator stalk of mitochondrial F1F more4
    ATP51
    45.96(n)1
    35.86(a)1
      4(1058814-1058176)4
    8518921, 4  NP_010584.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATP51 ATP5 45.33(n)
    35.5(a)
      831186  NM_121348.3  NP_196849.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g06465001 Os06g0646500 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)
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    Paralogs for ATP5O gene
    ENSG000002492092  

    Find genes that share paralogs with ATP5O           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for ATP5O
    PGOHUM00000247660 PGOHUM00000240499


    (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)
    About This Section

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    Selected SNPs for ATP5O (see all 347)    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
          Database of Genomic Variants (DGV) variations for ATP5O: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 600828    OMIM disorders: --

    3 diseases for ATP5O:    
    About MalaCards
    autoimmune polyglandular syndrome type 2    d-2-hydroxyglutaric aciduria    2-hydroxyglutaric aciduria

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

    Find genes that share disorders with ATP5O           About GenesLikeMe

    5 Novoseek inferred 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)

    Genetic Association Database (GAD): ATP5O
    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)
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    PubMed articles for ATP5O gene, integrated from 10 sources (see all 60):
    (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. (Genomics 1995)
    2. Genetic variation in ATP5O is associated with skeletal muscle ATP50 mRNA expression and glucose uptake in young twins. (PubMed id 19274082)1, 4, 9 RAPnn T....Ling C. (PLoS ONE 2009)
    3. 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)
    4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    5. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. 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)
    8. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    9. 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. (J. Bioenerg. Biomembr. 2007)
    10. 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. (J. Biol. Chem. 2002)

    (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: 539 HGNC: 850 AceView: ATP5O Ensembl:ENSG00000241837 euGenes: HUgn539
    ECgene: ATP5O Kegg: 539 H-InvDB: ATP5O

    (According to HUGE)
    About This Section

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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)
    About This Section

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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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