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    MT-ATP6 mitochondrially encoded ATP synthase 6 [ Homo sapiens (human) ]

    Gene ID: 4508, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MT-ATP6provided by HGNC
    Official Full Name
    mitochondrially encoded ATP synthase 6provided by HGNC
    Primary source
    HGNC:HGNC:7414
    See related
    MIM:516060; AllianceGenome:HGNC:7414
    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; ATP6
    Summary
    Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in Leber hereditary optic neuropathy; NARP syndrome; Parkinson's disease; multiple sclerosis; and systemic lupus erythematosus. [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See MT-ATP6 in Genome Data Viewer
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (8527..9207)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (8527..9207)

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

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Effects of Tributyltin Chloride on Cybrids with or without an ATP Synthase Pathologic Mutation. López-Gallardo E, et al. Environ Health Perspect, 2016 Sep. PMID 27129022, Free PMC Article
    2. Deep sequencing discovery of causal mtDNA mutations in a patient with unspecific neurological disease. Spangenberg L, et al. Mitochondrion, 2019 May. PMID 30227252
    3. Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity. Berhe S, et al. Haematologica, 2018 Dec. PMID 30006447, Free PMC Article
    4. Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene. Vazquez-Memije ME, et al. J Cell Biochem, 2009 Apr 1. PMID 19160410
    5. Mitochondrial DNA-Associated Leigh Syndrome Spectrum. Adam MP, et al. , 1993. PMID 20301352

    See all (112) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.
      Title: A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.
    2. Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies.
      Title: Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies.
    3. MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
      Title: MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
    4. Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast.
      Title: Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast.
    5. Generation of two mother-child pairs of iPSCs from maternally inherited Leigh syndrome patients with m.8993 T > G and m.9176 T > G MT-ATP6 mutations.
      Title: Generation of two mother-child pairs of iPSCs from maternally inherited Leigh syndrome patients with m.8993 T > G and m.9176 T > G MT-ATP6 mutations.
    6. A lack of a definite correlation between male sub-fertility and single nucleotide polymorphisms in sperm mitochondrial genes MT-CO3, MT-ATP6 and MT-ATP8.
      Title: A lack of a definite correlation between male sub-fertility and single nucleotide polymorphisms in sperm mitochondrial genes MT-CO3, MT-ATP6 and MT-ATP8.
    7. Analysis of mitochondrial DNA cytochrome-b (CYB) and ATPase-6 gene mutations in COVID-19 patients.
      Title: Analysis of mitochondrial DNA cytochrome-b (CYB) and ATPase-6 gene mutations in COVID-19 patients.
    8. Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.
      Title: Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.
    9. Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome.
      Title: Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome.
    10. The effect of oral melatonin supplementation on MT-ATP6 gene expression and IVF outcomes in Iranian infertile couples: a nonrandomized controlled trial.
      Title: The effect of oral melatonin supplementation on MT-ATP6 gene expression and IVF outcomes in Iranian infertile couples: a nonrandomized controlled trial.
    Submit: New GeneRIF Correction See all GeneRIFs (76)

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to proton-transporting ATP synthase activity, rotational mechanism IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to proton-transporting ATP synthase activity, rotational mechanism IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in proton motive force-driven ATP synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proton motive force-driven ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in proton motive force-driven mitochondrial ATP synthesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to hyperoxia IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IC
    Inferred by Curator
    more info
    		 PubMed 
    part_of proton-transporting ATP synthase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of proton-transporting ATP synthase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of proton-transporting ATP synthase complex, coupling factor F(o) IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ATP synthase F0 subunit 6
    YP_003024031.1
    • ATP synthase 6; ATPase subunit 6

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NC_012920.1 Reference assembly

      Range
      8527..9207
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for YP_003024031.1

      Status: PROVISIONAL

      UniProtKB/Swiss-Prot
      P00846, Q34772, Q5S8W5, Q5S9E7, Q5S9I6, Q5SA31, Q6RPB7, Q6VHC0, Q6VHE0, Q6WQF4, Q7YCC1, Q7YCF8, Q7YCG1, Q85KU8, Q85KX1, Q85L05, Q8HNQ4, Q8HNQ8, Q8WCX6, Q9B2U5, Q9B2Z2
      UniProtKB/TrEMBL
      A0A023I889, A0A023I8Y9, A0A1S6NKE4, A0A1S7C6F1, A0A1X7RC20, A0A888VH72, A4ZYE7, B4YBC1, C0LJY4, D7SF29, E5E0I5, E5FWR5, E7E3A2, E7E3U7, F1AZ37, F1AZB5, H9QJB5, L7P4X9, Q0ZFE3, Q9B1D3, R9Y3L7, U5L389
      Related
      ENSP00000354632.2
      Conserved Domains (1) summary
      MTH00101
      Location:1 → 226
      ATP6; ATP synthase F0 subunit 6; Validated
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P00846.1 P00846

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