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    bor belphegor [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 53565, updated on 27-Dec-2024

    Summary

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    Official Symbol
    borprovided by FlyBase
    Official Full Name
    belphegorprovided by FlyBase
    Primary source
    FLYBASE:FBgn0287225
    Locus tag
    Dmel_CG6815
    See related
    AllianceGenome:FB:FBgn0287225
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    ATAD3A; Bor; CG6815; CP89BC; dAtad3a; dATAD3A; denuded; Dmel\CG6815
    Summary
    Predicted to enable ATP hydrolysis activity. Involved in mitochondrion organization. Located in mitochondrion. Is expressed in adult head. Used to study Harel-Yoon syndrome. Human ortholog(s) of this gene implicated in Harel-Yoon syndrome and neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome. Orthologous to several human genes including ATAD3A (ATPase family AAA domain containing 3A). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See bor in Genome Data Viewer
    Location:
    89B9-89B9; 3-58 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3R NT_033777.3 (16261355..16264115, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3R NT_033777.2 (12087077..12089837, complement)

    Chromosome 3R - NT_033777.3Genomic Context describing neighboring genes Neighboring gene long non-coding RNA:CR45643 Neighboring gene taranis Neighboring gene asunder Neighboring gene Mst89B Neighboring gene Maternal transcript 89Ba

    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. Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation. Muñoz-Oreja M, et al. Brain, 2024 May 3. PMID 38242545, Free PMC Article
    2. The AAA+ ATPase ATAD3A controls mitochondrial dynamics at the interface of the inner and outer membranes. Gilquin B, et al. Mol Cell Biol, 2010 Apr. PMID 20154147, Free PMC Article
    3. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Harel T, et al. Am J Hum Genet, 2016 Oct 6. PMID 27640307, Free PMC Article
    4. Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes. Yap ZY, et al. Genome Med, 2021 Apr 12. PMID 33845882, Free PMC Article
    5. The regulation of cell size and branch complexity in the terminal cells of the Drosophila tracheal system. Burguete AS, et al. Dev Biol, 2019 Jul 1. PMID 30735663, Free PMC Article

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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 FlyBase

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity ISM
    Inferred from Sequence Model
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrion organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    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
    belphegor
    Names
    CG6815-PA
    CG6815-PB
    bor-PA
    bor-PB
    cytoplasmic protein 89BC
    denuded

    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. NT_033777.3 Reference assembly

      Range
      16261355..16264115 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001260206.1 → NP_001247135.1  belphegor, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001247135.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q9VEX6
      UniProtKB/TrEMBL
      Q7KJ37
      Conserved Domains (3) summary
      pfam00004
      Location:354 → 481
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam12037
      Location:34 → 291
      DUF3523; Domain of unknown function (DUF3523)
      cl28319
      Location:326 → 373
      COG1855; Predicted ATPase, PilT family [General function prediction only]

    2. NM_080257.4 → NP_524996.1  belphegor, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_524996.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q9VEX6
      UniProtKB/TrEMBL
      Q7KJ37
      Related
      FBpp0082728
      Conserved Domains (3) summary
      pfam00004
      Location:354 → 481
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam12037
      Location:34 → 291
      DUF3523; Domain of unknown function (DUF3523)
      cl28319
      Location:326 → 373
      COG1855; Predicted ATPase, PilT family [General function prediction only]
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7KJ37 Q7KJ37
    Q95TQ1 Q95TQ1
    Q9VEX6.2 Q9VEX6

    Gene LinkOut

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