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

    Gene ID: 4508, updated on 31-Jan-2024

    Summary

    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 mitochondrial ATP synthesis coupled proton transport. Part of mitochondrial 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, Apr 2022]
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    Genomic context

    See MT-ATP6 in Genome Data Viewer
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (8527..9207)
    105.20220307 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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
     

    General protein information

    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, E7E3U7, F1AZ37, F1AZB5, H9QJB5, L7P4X9, Q0ZFE3, Q9B1D3, R9Y3L7, U5L389
      Related
      ENSP00000354632.2
      Conserved Domains (1) summary
      MTH00101
      Location:1226
      ATP6; ATP synthase F0 subunit 6; Validated