Property Summary

NCBI Gene PubMed Count 64
Grant Count 44
R01 Count 12
Funding $4,814,624.8
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 0.000
ovarian cancer 1.500 0.000

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.
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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.
More...