U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Aptx aprataxin [ Drosophila melanogaster (fruit fly) ]

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

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

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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

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

Other Literature Sources
Chemical Information
Molecular Biology Databases
Research Materials
Tools