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

MT-ATP8 Gene

protein-coding   GIFtS: 35
GCID: GCMTP008368

mitochondrially encoded ATP synthase 8

(Previous name: ATP synthase 8 )
(Previous symbol: MTATP8)
 Explore 10 diseases affiliated with
MT-ATP8 via our new
 Human Malady Compendium 
Biological research products
for MT-ATP8
    

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

Aliases
Mitochondrially Encoded ATP Synthase 81     ATPase82
ATP81 2 3     ATP Synthase F0 Subunit 82
MTATP81 2 3     ATPASE83
A6L1 3     F-ATPase Subunit 83
ATP Synthase 81     

External Ids:    HGNC: 74151   Entrez Gene: 45092   Ensembl: ENSG000002282537   OMIM: 5160705   UniProtKB: P039283   

Export aliases for MT-ATP8 gene to outside databases

Previous GC identifer: GC00U921583


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

UniProtKB/Swiss-Prot: ATP8_HUMAN, P03928
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. Minor subunit located with subunit a in the
membrane (By similarity)

Gene Wiki entry for MT-ATP8


(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)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MT-ATP8
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-ATP8


Genomic Location:
Chromosome:MT   

Ensembl cytogenetic band:  MT   HGNC chromosome: mitochondria

GeneLoc information about chromosome MT         GeneLoc Exon Structure

GeneLoc location for GCMTP008368:  view genomic region     (about GC identifiers)

Start:
8,366 bp from pter      End:
8,572 bp from pter
Size:
207 bases      Orientation:
plus strand

(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: ATP8_HUMAN, P03928 (See protein sequence)
Recommended Name: ATP synthase protein 8  
Size: 68 amino acids; 7992 Da
Subunit: F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel.
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 membrane; Single-pass membrane protein
Secondary accessions: Q34771

Explore the universe of human proteins at neXtProt for MT-ATP8: NX_P03928

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P03928

  • MT-ATP8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).


    ENSEMBL proteins: 
     ENSP00000355265  
    Reactome Protein details: P03928
    Human Recombinant Protein Products: 
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    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) NAS--
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005753mitochondrial proton-transporting ATP synthase complex IDA12110673
    GO:0016021integral to membrane IEA--


    MT-ATP8 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

    MT-ATP8 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001421 ATPase_F0-cplx_su8_mt_metazoan

    Graphical View of Domain Structure for InterPro Entry P03928

    ProtoNet protein and cluster: P03928

    1 Blocks protein family: IPB001421 Mitochondrial ATPase

    UniProtKB/Swiss-Prot: ATP8_HUMAN, P03928
    Similarity: Belongs to the ATPase protein 8 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: ATP8_HUMAN, P03928
    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. Minor subunit located with subunit a in the
    membrane (By similarity)

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015078hydrogen ion transmembrane transporter activity IEA--
    GO:0016887contributes to ATPase activity IDA12110673
    GO:0022857transmembrane transporter activity IC12110673


    MT-ATP8 for ontologies           About GeneDecksing


    Animal Models:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for mt-Atp8):
     behavior/neurological 

    MT-ATP8 for phenotypes           About GeneDecksing


    (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
    Alzheimer's disease0.43
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Huntington's disease0.40
    Oxidative phosphorylation0.63
    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


    1 BioSystems Pathway for MT-ATP8 
        Electron Transport Chain

    4        Reactome Pathways for MT-ATP8
        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 MT-ATP8):
        Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease
    Huntington's disease


    MT-ATP8 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MT-ATP8

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

    5/58 Interacting proteins for MT-ATP8 (P039283 ENSP000003552654) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAPGEF2Q9Y4G83, ENSP000002644314I2D: score=2 STRING: ENSP00000264431
    UBE2IP632793, ENSP000003248974I2D: score=1 STRING: ENSP00000324897
    PACSIN1Q9BY113, ENSP000002444584I2D: score=3 STRING: ENSP00000244458
    GRB2P629933, ENSP000003390074I2D: score=3 STRING: ENSP00000339007
    WNK1Q9H4A33, ENSP000003130594I2D: score=3 STRING: ENSP00000313059
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA12110673
    GO:0015986ATP synthesis coupled proton transport NAS--
    GO:0022904respiratory electron transport chain TAS--
    GO:0042776mitochondrial ATP synthesis coupled proton transport TAS--
    GO:0044281small molecule metabolic process TAS--


    MT-ATP8 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

    MT-ATP8 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MT-ATP8

    4 HMDB Compounds for MT-ATP8    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--
    2 Novoseek chemical compound relationships for MT-ATP8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nadh 53.9 5 19066432 (1), 16861209 (1), 15855057 (1), 17619138 (1) (see all 5)
    rrna 46.5 3 17464880 (1)

    Search CenterWatch for drugs/clinical trials and news about MT-ATP8 / ATP8 

    (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,
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    About This Section

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000361851

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    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

    MT-ATP8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image
    See MT-ATP8 Protein Expression from SPIRE MOPED and PaxDB    SABiosciences Custom PCR Arrays for MT-ATP8
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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)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for MT-ATP8 gene from 1/4 species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia mt-Atp85 mitochondrially encoded ATP synthase 8   --   MT 7766 


    ENSEMBL Gene Tree for MT-ATP8 (if available)
    TreeFam Gene Tree for MT-ATP8 (if available) 

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

    (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

    Human Gene Mutation Database (HGMD): MT-ATP8
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MT-ATP8
    DNA2.0 Custom Variant and Variant Library Synthesis for MT-ATP8

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

    MT-ATP8 for disorders           About GeneDecksing

    OMIM gene information: 516070    OMIM disorders: --

    10 diseases for MT-ATP8:    About MalaCards
    complex v    spinocerebellar ataxia    epithelial ovarian cancer    multiple sclerosis
    ovarian cancer    huntington's disease    parkinson's disease    ataxia
    cardiomyopathy    acne

    Genetic Association Database (GAD): MT-ATP8

    Export disorders for MT-ATP8 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 MT-ATP8 gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with MT-ATP8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polymorphisms in the coding region of mtDNA and effects on clinical outcome of unrelated bone marrow transplantation. (PubMed id 11607774)1, 4 Ishikawa Y....Juji T. (2001)
    2. Sequence and organization of the human mitochondrial genome. (PubMed id 7219534)1, 2 Anderson S.... Young I.G. (1981)
    3. Investigation on mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian multiple sclerosis patients. (PubMed id 17619138)1, 9 Ahari S.E....Bahar M.A. (2007)
    4. Mitochondrial tRNALeu/Lys and ATPase 6/8 gene variations in spinocerebellar ataxias. (PubMed id 19066432)1, 9 Safaei S....Shariati P. (2009)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (2010)
    8. MtSNPscore: a combined evidence approach for assessin g cumulative impact of mitochondrial variations in disease. (PubMed id 19758471)1 Bhardwaj A....Tiwari S. (2009)
    9. Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. (PubMed id 14760490)2 Coble M.D.... Parsons T.J. (2004)
    10. Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines. (PubMed id 12840039)2 Ingman M. and Gyllensten U. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 4509 HGNC: 7415 Ensembl:ENSG00000228253 euGenes: HUgn4509 ECgene: MT-ATP8 Kegg: 4509
    H-InvDB: MT-ATP8

    (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 MT-ATP8 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 MT-ATP8 gene:
    Search GeneIP for patents involving MT-ATP8

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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