HCSGD entry for APTX

1. General information

Official gene symbolAPTX
Entrez ID54840
Gene full nameaprataxin
Other gene symbolsAOA AOA1 AXA1 EAOH EOAHA FHA-HIT
Links to Entrez GeneLinks to Entrez Gene

2. Neighbors in the network

color bar
This gene isn't in PPI subnetwork.

3. Gene ontology annotation

GO ID

GO term

Evidence

Category

GO:0000012Single strand break repairIDAbiological_process
GO:0000738DNA catabolic process, exonucleolyticIDAbiological_process
GO:0000785ChromatinIDAcellular_component
GO:0000790Nuclear chromatinIDAcellular_component
GO:0003682Chromatin bindingIDAmolecular_function
GO:0003684Damaged DNA bindingIDAmolecular_function
GO:0003690Double-stranded DNA bindingIDAmolecular_function
GO:0003725Double-stranded RNA bindingIDAmolecular_function
GO:0003824Catalytic activityIEAmolecular_function
GO:0005515Protein bindingIPImolecular_function
GO:0005654NucleoplasmIDAcellular_component
GO:0005730NucleolusIDAcellular_component
GO:0005737CytoplasmIEAcellular_component
GO:0006266DNA ligationIEAbiological_process
GO:0006302Double-strand break repairIDAbiological_process
GO:0006308DNA catabolic processIDAbiological_process
GO:0006974Cellular response to DNA damage stimulusIMPbiological_process
GO:0008219Cell deathIEAbiological_process
GO:0008967Phosphoglycolate phosphatase activityIDAmolecular_function
GO:0016311DephosphorylationIDAbiological_process
GO:0031647Regulation of protein stabilityIMPbiological_process
GO:0033699DNA 5'-adenosine monophosphate hydrolase activityIDAmolecular_function
GO:0042542Response to hydrogen peroxideIDAbiological_process
GO:0046403Polynucleotide 3'-phosphatase activityIDAmolecular_function
GO:0046872Metal ion bindingIEAmolecular_function
GO:0047485Protein N-terminus bindingIPImolecular_function
GO:0051219Phosphoprotein bindingIPImolecular_function
GO:0090305Nucleic acid phosphodiester bond hydrolysisIDAbiological_process
GO:0098501Polynucleotide dephosphorylationIDAbiological_process
GO:0098506Polynucleotide 3' dephosphorylationIDAbiological_process
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4. Expression levels in datasets

  • Meta-analysis result

p-value upp-value downFDR upFDR down
0.82060437670.49228746630.99999024731.0000000000

  • Individual experiment result
    ( "-" represent NA in the specific microarray platform )

Data sourceUp or downLog fold change
GSE11954Up0.4233397002
GSE13712_SHEARUp0.0887892736
GSE13712_STATICUp0.0401056256
GSE19018Down-0.2845776644
GSE19899_A1Down-0.0259416741
GSE19899_A2Down-0.2326554519
PubMed_21979375_A1Down-0.3258586220
PubMed_21979375_A2Down-0.2290021953
GSE35957Up0.0438659318
GSE36640Down-0.1459363034
GSE54402Up0.0642102408
GSE9593Down-0.0675530724
GSE43922Up0.0334420810
GSE24585Down-0.0775210000
GSE37065Up0.0175863839
GSE28863_A1Up0.1173491152
GSE28863_A2Down-0.1790736951
GSE28863_A3Down-0.0973663868
GSE28863_A4Up0.0751843181
GSE48662Up0.0870294155

5. Regulation relationships with compounds/drugs/microRNAs

  • Compounds

Not regulated by compounds

  • Drugs

Not regulated by drugs

  • MicroRNAs

    • mirTarBase

MiRNA_name

mirBase ID

miRTarBase ID

Experiment

Support type

References (Pubmed ID)

hsa-miR-342-3pMIMAT0000753MIRT043736CLASHFunctional MTI (Weak)23622248
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    • mirRecord
No target information from mirRecord

6. Text-mining results about the gene

Gene occurances in abstracts of cellular senescence-associated articles: 1 abstracts the gene occurs.


PubMed ID of the article

Sentenece the gene occurs

25274775Aprataxin (APTX) deficiency causes progressive cerebellar degeneration, ataxia and oculomotor apraxia in man
25274775Cell free assays and crystal structure studies demonstrate a role for APTX in resolving 5'-adenylated nucleic acid breaks, however, APTX function in vertebrates remains unclear due to the lack of an appropriate model system
25274775Here, we generated a murine model in which a pathogenic mutant of superoxide dismutase 1 (SOD1(G93A)) is expressed in an Aptx-/- mouse strain
25274775We report a delayed population doubling and accelerated senescence in Aptx-/- primary mouse fibroblasts, which is not due to detectable telomere instability or cell cycle deregulation but is associated with a reduction in transcription recovery following oxidative stress
25274775Expression of SOD1(G93A) uncovers a survival defect ex vivo in cultured cells and in vivo in tissues lacking Aptx
25274775Together, this study demonstrates a protective role of Aptx in vivo and suggests that its loss results in progressive accumulation of DNA breaks in the nervous system, triggering hallmarks of premature ageing, systemically
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