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    Aptx aprataxin [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 42322, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Aptxprovided by FlyBase
    Official Full Name
    aprataxinprovided by FlyBase
    Primary source
    FLYBASE:FBgn0038704
    Locus tag
    Dmel_CG5316
    See related
    AllianceGenome:FB:FBgn0038704
    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
    CG5316; Dmel\CG5316
    Summary
    Predicted to enable DNA 5'-adenosine monophosphate hydrolase activity and nucleic acid binding activity. Predicted to be involved in single strand break repair. Part of precatalytic spliceosome. Used to study ataxia with oculomotor apraxia type 1. Human ortholog(s) of this gene implicated in ataxia with oculomotor apraxia type 1 and olivopontocerebellar atrophy. Orthologous to human APTX (aprataxin). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See Aptx in Genome Data Viewer
    Location:
    92A3-92A3; 3-66 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3R NT_033777.3 (19403455..19406294)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3R NT_033777.2 (15229177..15232016)

    Chromosome 3R - NT_033777.3Genomic Context describing neighboring genes Neighboring gene INO80 complex subunit Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein

    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. Ataxia-associated DNA repair genes protect the Drosophila mushroom body and locomotor function against glutamate signaling-associated damage. Eidhof I, et al. Front Neural Circuits, 2023. PMID 37476399, Free PMC Article
    2. KDM5 interacts with Foxo to modulate cellular levels of oxidative stress. Liu X, et al. PLoS Genet, 2014 Oct. PMID 25329053, Free PMC Article
    3. The XNP remodeler targets dynamic chromatin in Drosophila. Schneiderman JI, et al. Proc Natl Acad Sci U S A, 2009 Aug 25. PMID 19706533, Free PMC Article
    4. C9orf72-associated arginine-rich dipeptide repeats induce RNA-dependent nuclear accumulation of Staufen in neurons. Kim ES, et al. Hum Mol Genet, 2021 Jun 9. PMID 33783499, Free PMC Article
    5. Cytoplasmic polyadenylation is a major mRNA regulator during oogenesis and egg activation in Drosophila. Cui J, et al. Dev Biol, 2013 Nov 1. PMID 23978535, Free PMC Article

    See all (37) 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 DNA 5'-adenosine monophosphate hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables damaged DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables double-stranded RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mismatched DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables single-strand break-containing DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in single strand break repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in single strand break repair ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of precatalytic spliceosome HDA PubMed 

    General protein information

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    Preferred Names
    aprataxin
    Names
    Aptx-PA
    Aptx-PB
    Aptx-PC
    Aptx-PE
    CG5316-PA
    CG5316-PB
    CG5316-PC
    CG5316-PE
    NP_001247195.2
    NP_650805.1
    NP_732421.1
    NP_732422.1

    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
      19403455..19406294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_169858.1 → NP_732421.1  aprataxin, isoform C [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_732421.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      A4V347, L0BID2, Q8MSG8, Q9VDX2, Q9VDX3
      Related
      FBpp0083172, FBtr0083758
      Conserved Domains (2) summary
      pfam11969
      Location:8 → 100
      DcpS_C; Scavenger mRNA decapping enzyme C-term binding
      pfam16278
      Location:345 → 405
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

    2. NM_001260266.2 → NP_001247195.2  aprataxin, isoform E [Drosophila melanogaster]

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A1Z1CGZ3

    3. NM_169859.3 → NP_732422.1  aprataxin, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_732422.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q8MSG8
      Related
      FBpp0083173
      Conserved Domains (1) summary
      pfam11969
      Location:8 → 100
      DcpS_C; Scavenger mRNA decapping enzyme C-term binding

    4. NM_142548.2 → NP_650805.1  aprataxin, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_650805.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      A4V347, L0BID2, Q8MSG8, Q9VDX2, Q9VDX3
      Related
      FBpp0083174
      Conserved Domains (2) summary
      pfam11969
      Location:8 → 100
      DcpS_C; Scavenger mRNA decapping enzyme C-term binding
      pfam16278
      Location:345 → 405
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A1Z1CGZ3 A0A1Z1CGZ3
    Q8MSG8.2 Q8MSG8

    Gene LinkOut

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