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    Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 [ Mus musculus (house mouse) ]

    Gene ID: 246782, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Atpaf2provided by MGI
    Official Full Name
    ATP synthase mitochondrial F1 complex assembly factor 2provided by MGI
    Primary source
    MGI:MGI:2180561
    See related
    Ensembl:ENSMUSG00000042709 AllianceGenome:MGI:2180561
    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
    ATP12; ATP12p
    Summary
    Predicted to be involved in mitochondrial proton-transporting ATP synthase complex assembly. Located in mitochondrion. Human ortholog(s) of this gene implicated in mitochondrial complex V (ATP synthase) deficiency nuclear type 1. Orthologous to human ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 21.6), subcutaneous fat pad adult (RPKM 17.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Atpaf2 in Genome Data Viewer
    Location:
    11 B2; 11 37.81 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (60291450..60309427, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (60400624..60420479, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene target of myb1-like 2 (chicken) Neighboring gene STARR-positive B cell enhancer ABC_E77 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene STARR-seq mESC enhancer starr_29650 Neighboring gene dynein regulatory complex subunit 3 Neighboring gene STARR-positive B cell enhancer ABC_E1139 Neighboring gene STARR-seq mESC enhancer starr_29653 Neighboring gene GID complex subunit 4, VID24 homolog Neighboring gene STARR-seq mESC enhancer starr_29654 Neighboring gene predicted gene 12268 Neighboring gene ribosomal protein S4, X-linked pseudogene

    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. Conserved role of ATP synthase in mammalian cilia. Lin W, et al. Exp Cell Res, 2021 Apr 1. PMID 33639177
    2. Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. Ricard G, et al. PLoS Biol, 2010 Nov 23. PMID 21124890, Free PMC Article
    3. The human (PEDB) and mouse (mPEDB) Prostate Expression Databases. Nelson PS, et al. Nucleic Acids Res, 2002 Jan 1. PMID 11752298, Free PMC Article
    4. Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome. Unda BK, et al. Mol Psychiatry, 2023 Apr. PMID 36604605, Free PMC Article
    5. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Ingham NJ, et al. PLoS Biol, 2019 Apr. PMID 30973865, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Conserved role of ATP synthase in mammalian cilia.
      Title: Conserved role of ATP synthase in mammalian cilia.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial proton-transporting ATP synthase complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    ATP synthase mitochondrial F1 complex assembly factor 2

    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_001364117.2 → NP_001351046.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL596090
      Conserved Domains (1) summary
      cl02228
      Location:1 → 163
      ATP12; ATP12 chaperone protein

    2. NM_001364118.2 → NP_001351047.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL596090
      Conserved Domains (1) summary
      cl02228
      Location:1 → 163
      ATP12; ATP12 chaperone protein

    3. NM_001408878.1 → NP_001395807.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL596090

    4. NM_001408879.1 → NP_001395808.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL596090

    5. NM_001408880.1 → NP_001395809.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL596090

    6. NM_001408881.1 → NP_001395810.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL596090

    7. NM_001408882.1 → NP_001395811.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL596090

    8. NM_001408883.1 → NP_001395812.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL596090

    9. NM_001408884.1 → NP_001395813.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL596090

    10. NM_001408885.1 → NP_001395814.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL596090

    11. NM_001408886.1 → NP_001395815.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL596090

    12. NM_001408887.1 → NP_001395816.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL596090

    13. NM_001408888.1 → NP_001395817.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL596090

    14. NM_001408889.1 → NP_001395818.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL596090

    15. NM_001408890.1 → NP_001395819.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL596090

    16. NM_145427.4 → NP_663402.3  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL596090
      Consensus CDS
      CCDS24789.2
      UniProtKB/Swiss-Prot
      Q8BP08, Q91YY4
      Related
      ENSMUSP00000104361.3, ENSMUST00000108721.9

    RNA

    1. NR_157083.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL596090

    2. NR_176807.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL596090

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      60291450..60309427 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91YY4.1 GenPept UniProtKB/Swiss-Prot:Q91YY4

    Gene LinkOut

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

    Chemical Information
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