Property Summary

NCBI Gene PubMed Count 64
PubMed Score 106.38
PubTator Score 117.79

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
tuberculosis and treatment for 6 months -1.100 1.2e-04
ovarian cancer 1.500 8.5e-07

Gene RIF (38)

PMID Text
26285866 We describe an ataxia with oculomotor apraxia type 1 patient without a severe phenotype, who has a homozygous deletion of the complete coding region of APTX.
25976310 Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
25637650 Herein, we survey APTX function and the emerging cell biological, structural and biochemical data that has established a molecular foundation for understanding the APTX mediated deadenylation reaction. [review]
24362567 Structure-function studies of human APTX-RNA-DNA-AMP-Zn complexes define a mechanism for detecting and reversing adenylation at RNA-DNA junctions
24161509 TDP1 and APTX take part in the mitochondrial DNA repair and are apparently being transported from the cell nucleus. (Review)
21984210 Data suggest that mutations affecting protein folding, the active site pocket and the pivot motif underlie aprataxin dysfunction in the neurodegenerative disorder ataxia with oculomotor apraxia 1 (AOA1).
21502511 Aprataxin localizes to mitochondria and preserves mitochondrial function.
21486904 The patients with early onset ataxia with ocular motor apraxia and hypoalbuminaemia homozygous for the c.689_690insT mutation(APTX) show a more severe phenotype than those with a p.Pro206Leu or p.Val263Gly mutation.
21465257 The clinical phenotype was homogeneous, irrespectively of the type and location of the APTX mutation, and it was mainly characterized by early-onset cerebellar signs, sensory neuropathy, cognitive decline, and oculomotor deficits.
21412945 Aprataxin is required for the normal repair rate of DNA single-strand breaks induced by genotoxic agents.
20399152 Loss of HNT3 in rad27Delta cells, which are deficient in long-patch base excision repair (LP-BER), resulted in synergistic sensitivity to H(2)O(2) and methylmethane sulfonate.
20371676 High aprataxin levels are associated with low irinotecan response in colorectal cancer.
19960345 Data show that the RASGRP1/APTX gene expression ratio was higher in the responder while the AKAP13 expression was higher in the non-responders.
19953284 searched for aprataxin mutations in Greek patients with sporadic cerebellar ataxia where GAA expansion in frataxin gene has been excluded; no detectable point mutation or deletion was found in the aprataxin gene of all the patients
19861517 Observational study of gene-disease association. (HuGE Navigator)
19643912 Data demonstrate the presence of elevated levels of oxidative DNA damage in AOA1 cells coupled with reduced base excision and gap filling repair efficiencies indicative of a synergy between aprataxin, PARP-1, APE-1 and OGG1 in the DNA damage response.
19561170 Protein kinase C gamma, a causative for spinocerebellar ataxia, negatively regulates nuclear import of aprataxin.
19103743 that short-patch single-strand break repair (SSBR) in AOA1 cell extracts bypasses the point of aprataxin action at oxidative breaks and stalls at the final step of DNA ligation, resulting in the accumulation of adenylated DNA nicks
18836178 APTX is the first protein to adopt canonical histidine triad-type reaction chemistry for the repair of DNA
18202221 We report a patient with homozygous deletion of APTX, who presented with behavioural changes (social withdrawal), and subsequent rapid progression of neurological symptoms associated with severe cognitive decline.
17572444 Expression studies by Western blotting on fibroblasts demonstrated that the homozygous Val230Gly mutation was associated with decreased levels of APTX indicating a loss-of-function mechanism.
17519253 Aprataxin repairs DNA single-strand breaks with a unique substrate specificity toward damaged 3'-ends including 3'-phosphoglycolate and 3'-phosphate ends, and that disease-associated mutant forms of aprataxin lack this activity.
17485165 All of the disease-associated apprataxin mutants had extremely shorter half-lives than the WT. We further found that these mutants were targeted for rapid proteasome-mediated degradation
17276982 May have a general proofreading function in DNA repair, removing DNA adenylates as they arise during single-strand break repair, double-strand break repair, and in base excision repair.
17240329 Aprataxin is critical for the processing of obstructive DNA termini.
17049295 2 patients whose clinical features resembled those of multiple system atrophy of the cerebellar subtype (MSA-C) but without ocular motor apraxia and hypoalbuminemia. Each had a different nucleotide transition in the APTX gene.
16777843 cross-dependence between aprataxin and nucleolin in the nucleolus
16547001 Aprataxin has a role in the cellular response to DNA damage
15790557 the essential function of Aprataxin is reversal of nucleotidylylated protein modifications; all three domains contribute to formation of a stable enzyme, and the in vitro behavior of cloned APTX alleles can score disease-associated mutations
15719174 Aprataxin was shown to be involved directly in the DNA single-strand-break repair machinery.
15596775 A novel homozygous missense mutation (H201Q) was found in one Italian patient.
15555565 determined the domains of APTX and XRCC1 required for their interaction; findings suggest that APTX, together with XRCC1 and PARP-1, plays an essential role in single-strand DNA break repair
15380105 Aprataxin is physically associated with both the DNA single-strand and double-strand break repair machinery, raising the possibility that AOA1 is a novel DNA damage response-defective disease.
15365154 Two novel mutations were identified, the complete deletion of the gene, which seems to not correlate with an increased severity of the disease, and a splice mutation on the acceptor splice site of exon 7 (875-1G>A (IVS7-1 G>A).
15164193 This study screened a group of 165 early onset ataxia patients for APTX mutations and detected two non-related patients homozygous for the W293X nonsense mutation.
15044383 aprataxin influences the cellular response to genotoxic stress.
14534929 A 14 year old girl presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia. and homozygous for an insertion mutation of aprataxin (APTX), 689 ins T.
12629250 The clinical and genetic features of three non-Portuguese and non-Japanese patients with aprataxin gene mutations are reported.

AA Sequence

MSNVNLSVSDFWRVMMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQLKAECNKGYV      1 - 70
KVKQVGVNPTSIDSVVIGKDQEVKLQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIER     71 - 140
DAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYP    141 - 210
KARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQ    211 - 280
DFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHL    281 - 350
RKHWTQ                                                                    351 - 356
//

Text Mined References (65)

PMID Year Title
26285866 2015 Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.
25976310 2015 Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
25637650 2015 Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.
25416956 2014 A proteome-scale map of the human interactome network.
24362567 2014 Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24161509 2014 The role of TDP1 and APTX in mitochondrial DNA repair.
21984210 2011 Structure of an aprataxin-DNA complex with insights into AOA1 neurodegenerative disease.
21502511 2011 Aprataxin localizes to mitochondria and preserves mitochondrial function.
21486904 2011 Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.
21465257 2011 Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
21412945 2011 A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20399152 2010 Genetic interactions between HNT3/Aprataxin and RAD27/FEN1 suggest parallel pathways for 5' end processing during base excision repair.
20371676 2010 Aprataxin tumor levels predict response of colorectal cancer patients to irinotecan-based treatment.
20008512 2010 CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response.
19960345 2010 Phase II trial and prediction of response of single agent tipifarnib in patients with relapsed/refractory mantle cell lymphoma: a Groupe d'Etude des Lymphomes de l'Adulte trial.
19953284 2010 Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.
19861517 2009 Predisposition for TMPRSS2-ERG fusion in prostate cancer by variants in DNA repair genes.
19643912 2009 Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.
19561170 2009 Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin.
19103743 2009 Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1.
18836178 2008 Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin.
18202221 2008 Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17572444 2007 A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.
17519253 2007 Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.
17485165 2007 Short half-lives of ataxia-associated aprataxin proteins in neuronal cells.
17276982 2007 Actions of aprataxin in multiple DNA repair pathways.
17240329 2007 Neurodegeneration: nicked to death.
17049295 2007 Aprataxin (APTX) gene mutations resembling multiple system atrophy.
16964241 2006 The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates.
16777843 2006 Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16547001 2006 Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities.
16439205 2006 XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15852392 2005 Very late onset in ataxia oculomotor apraxia type I.
15790557 2005 Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
15719174 2005 The novel human gene aprataxin is directly involved in DNA single-strand-break repair.
15699391 2005 Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
15596775 2004 Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype.
15555565 2004 The FHA domain of aprataxin interacts with the C-terminal region of XRCC1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15380105 2004 The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4.
15367657 2004 A new XRCC1-containing complex and its role in cellular survival of methyl methanesulfonate treatment.
15365154 2004 Aprataxin gene mutations in Tunisian families.
15276230 2004 Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
15164193 2004 Aprataxin mutations are a rare cause of early onset ataxia in Germany.
15164053 2004 DNA sequence and analysis of human chromosome 9.
15044383 2004 Aprataxin, a novel protein that protects against genotoxic stress.
14755728 2004 Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14534929 2003 Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation.
14506070 2003 Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
12629250 2003 Phenotypic variability of aprataxin gene mutations.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12196655 2002 Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
12119013 2002 Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases.
11586300 2001 The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
11586299 2001 Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
11170899 2001 Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.
7891378 1994 Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families.
7782601 1995 Ataxia-oculomotor apraxia syndrome.
3239952 1988 Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia.