My NCBISign In

Display Settings:

Format

Send to:

Choose Destination

    ATP6 ATP synthase F0 subunit 6 [ Homo sapiens ]

    Gene ID: 4508, updated on 19-May-2012
    Help top of page

    Summary

    Gene symbol
    ATP6
    Gene description
    ATP synthase F0 subunit 6
    Primary source
    HGNC:7414
    See related
    MIM:516060
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATPase6; MTATP6
    Help top of page

    Genomic context

    Location :
    country: United Kingdom: Great Britain, isolation source: caucasian, tissue type: placenta
    Sequence :
    Chromosome: MT; NC_012920.1 (8527..9207)
    See ATP6 in Epigenomics, MapViewer

    Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit II Neighboring gene tRNA Neighboring gene ATP synthase F0 subunit 8 Neighboring gene cytochrome c oxidase III Neighboring gene tRNA

    Help top of page

    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
    Helptop of page

    Bibliography

    Related articles in PubMed

    1. Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene. El-Hafidi M, et al. J Bioenerg Biomembr, 2011 Dec. PMID 21993659.
    2. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    3. Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation. Verny C, et al. Mitochondrion, 2011 Jan. PMID 20656066.
    4. Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C. Saneto RP, et al. Mitochondrion, 2010 Aug. PMID 20546952.
    5. Oxidative stress and ATPase6 mutation is associated with primary ovarian insufficiency. Venkatesh S, et al. Arch Gynecol Obstet, 2010 Sep. PMID 20361200.

    See all (38) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. differences in the biosynthesis and remodeling of cardiolipin at the level of the inner mitochondrial transmembrane related to some mutations of the ATP6 gene.
      Title: Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene.
    2. Mitochondrial ATP6 point mutation associated with hereditary spastic paraplegia-like disorder.
      Title: Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.
    3. To gain insight into the primary pathogenic mechanisms induced by mtDNA Atp6p T9176C, we have investigated the consequences of this mutation on the ATP synthase of yeast where Atp6p is also encoded by the mtDNA.
      Title: Consequences of the pathogenic T9176C mutation of human mitochondrial DNA on yeast mitochondrial ATP synthase.
    4. ATPase6 gene nucleotide alterations and elevated Reactive Oxygen Species levels occur in idiopathic cases of Primary ovarian insufficiency (POI)
      Title: Oxidative stress and ATPase6 mutation is associated with primary ovarian insufficiency.
    5. The authors report a rare mutation, m. 9185 T>C that gives rise to a progressive, but episodic pattern of neurological impairment with partial recovery in Leigh syndrome.
      Title: Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C.
    6. Results indicate that a mutation in mitochondrial ATPase 6 does not affect the proton permeability of the mitochondrial inner membrane.
      Title: Biochemical consequences in yeast of the human mitochondrial DNA 8993T>C mutation in the ATPase6 gene found in NARP/MILS patients.
    7. fibroblast phenotype study of the four most frequent mutations in the ATPase6 gene, namely L156R, L217R, L156P, and L217P
      Title: Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene.
    8. This paper emphasises the role of MTATP6 in LS and expands the associated clinical phenotype further.
      Title: Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.
    9. mitochondrial 12S/MT-RNR1, MT-CO2/COX2, and MT-ATP6 transcripts is significantly decreased in prostate tumor samples
      Title: Altered expression of 12S/MT-RNR1, MT-CO2/COX2, and MT-ATP6 mitochondrial genes in prostate cancer.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
    Submit: New GeneRIF Correction See all (26)
    Help top of page

    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Help top of page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:110612 BioGRID:108473 FANCC    BioGRID  PubMed Two-hybrid 
    BioGRID:110612 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    Help top of page

    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the ATP6 gene: The ATP6 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, and mosquito.

    Pathways from BioSystems

    Help top of page

    General protein information

    Names
    ATP synthase F0 subunit 6
    YP_003024031.1
    • ATP synthase 6; ATPase subunit 6
    Help top of page

    NCBI Reference Sequences (RefSeq)

    Genome Annotation

    The following sections contain reference sequences that belong to a specific genome build. Explain

    mRNA and Protein(s)

    1. YP_003024031.1 ATP synthase F0 subunit 6 [Homo sapiens]

      UniProtKB/Swiss-Prot
      P00846
      UniProtKB/TrEMBL
      Q0ZFE3
      Conserved Domains (1) summary
      cl00413
      Location:1 – 226
      Blast Score: 807
      ATP-synt_A; ATP synthase A chain
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic J01415.2 AAB58948.1
    Help top of page

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content