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    Atpaf1 ATP synthase mitochondrial F1 complex assembly factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 230649, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Atpaf1provided by MGI
    Official Full Name
    ATP synthase mitochondrial F1 complex assembly factor 1provided by MGI
    Primary source
    MGI:MGI:2180560
    See related
    Ensembl:ENSMUSG00000028710 AllianceGenome:MGI:2180560
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ATP11; ATP11p; 6330547J17Rik
    Summary
    Enables protein-containing complex stabilizing activity. Involved in mitochondrial proton-transporting ATP synthase complex assembly. Located in mitochondrial inner membrane. Orthologous to human ATPAF1 (ATP synthase mitochondrial F1 complex assembly factor 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 19.3), ovary adult (RPKM 14.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Atpaf1 in Genome Data Viewer
    Location:
    4 D1; 4 53.06 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (115642025..115669120)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (115784828..115811923)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) pseudogene Neighboring gene EF-hand calcium binding domain 14 Neighboring gene testis expressed 38 Neighboring gene STARR-seq mESC enhancer starr_11125 Neighboring gene STARR-positive B cell enhancer ABC_E1650 Neighboring gene MOB kinase activator 3C Neighboring gene STARR-positive B cell enhancer ABC_E6199 Neighboring gene MAP kinase-interacting serine/threonine kinase 1

    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. ATPAF1 deficiency impairs ATP synthase assembly and mitochondrial respiration. Zhou Z, et al. Mitochondrion, 2021 Sep. PMID 34375736, Free PMC Article
    2. Ca2+ -dependent interaction of S100A1 with F1-ATPase leads to an increased ATP content in cardiomyocytes. Boerries M, et al. Mol Cell Biol, 2007 Jun. PMID 17438143, Free PMC Article
    3. The interactome of intact mitochondria by cross-linking mass spectrometry provides evidence for coexisting respiratory supercomplexes. Liu F, et al. Mol Cell Proteomics, 2018 Feb. PMID 29222160, Free PMC Article
    4. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
    5. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ca(2+)-dependent interaction of SF100A1 with Atpaf1 leads to an increased ATP content in cardiomyocytes.
      Title: Ca2+ -dependent interaction of S100A1 with F1-ATPase leads to an increased ATP content in cardiomyocytes.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein-containing complex stabilizing activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial proton-transporting ATP synthase complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial proton-transporting ATP synthase complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ATP synthase mitochondrial F1 complex assembly factor 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001369233.1 → NP_001356162.1  ATP synthase mitochondrial F1 complex assembly factor 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL626806
      Consensus CDS
      CCDS89811.1
      UniProtKB/Swiss-Prot
      Q811I0
      UniProtKB/TrEMBL
      V9GX21
      Related
      ENSMUSP00000158943.2, ENSMUST00000239030.2
      Conserved Domains (1) summary
      pfam06644
      Location:73 → 303
      ATP11; ATP11 protein

    2. NM_181040.5 → NP_851383.2  ATP synthase mitochondrial F1 complex assembly factor 1 isoform 1

      See identical proteins and their annotated locations for NP_851383.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL626806
      Consensus CDS
      CCDS18496.2
      UniProtKB/TrEMBL
      H3BLL2
      Related
      ENSMUSP00000135831.2, ENSMUST00000176047.8
      Conserved Domains (1) summary
      pfam06644
      Location:97 → 329
      ATP11; ATP11 protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      115642025..115669120
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q811I0.1 GenPept UniProtKB/Swiss-Prot:Q811I0

    Gene LinkOut

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

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