Member database | CDD |
CDD type | domain |
Short name | FHA_APTX |
Set | FHA |
Description
References
1.The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Moreira MC, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T, Mendonca P, Costa M, Barros J, Yanagisawa T, Watanabe M, Ikeda Y, Aoki M, Nagata T, Coutinho P, Sequeiros J, Koenig M. Nat Genet 29, 189-93, (2001). PMID: 11586300
2.Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Le Ber I, Moreira MC, Rivaud-Pechoux S, Chamayou C, Ochsner F, Kuntzer T, Tardieu M, Said G, Habert MO, Demarquay G, Tannier C, Beis JM, Brice A, Koenig M, Durr A. Brain 126, 2761-72, (2003). PMID: 14506070
3.The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates. Ahel I, Rass U, El-Khamisy SF, Katyal S, Clements PM, McKinnon PJ, Caldecott KW, West SC. Nature 443, 713-6, (2006). View articlePMID: 16964241
4.Aprataxin, a novel protein that protects against genotoxic stress. Gueven N, Becherel OJ, Kijas AW, Chen P, Howe O, Rudolph JH, Gatti R, Date H, Onodera O, Taucher-Scholz G, Lavin MF. Hum. Mol. Genet. 13, 1081-93, (2004). View articlePMID: 15044383
5.Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription. Becherel OJ, Gueven N, Birrell GW, Schreiber V, Suraweera A, Jakob B, Taucher-Scholz G, Lavin MF. Hum Mol Genet 15, 2239-49, (2006). PMID: 16777843
6.Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. Shimazaki H, Takiyama Y, Sakoe K, Ikeguchi K, Niijima K, Kaneko J, Namekawa M, Ogawa T, Date H, Tsuji S, Nakano I, Nishizawa M. Neurology 59, 590-5, (2002). PMID: 12196655
7.Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein. Sano Y, Date H, Igarashi S, Onodera O, Oyake M, Takahashi T, Hayashi S, Morimatsu M, Takahashi H, Makifuchi T, Fukuhara N, Tsuji S. Ann Neurol 55, 241-9, (2004). PMID: 14755728
8.Very late onset in ataxia oculomotor apraxia type I. Criscuolo C, Mancini P, Menchise V, Sacca F, De Michele G, Banfi S, Filla A. Ann Neurol 57, 777, (2005). PMID: 15852392
9.Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity. Tumbale P, Williams JS, Schellenberg MJ, Kunkel TA, Williams RS. Nature 506, 111-5, (2014). View articlePMID: 24362567
10.CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response. Becherel OJ, Jakob B, Cherry AL, Gueven N, Fusser M, Kijas AW, Peng C, Katyal S, McKinnon PJ, Chen J, Epe B, Smerdon SJ, Taucher-Scholz G, Lavin MF. Nucleic Acids Res. 38, 1489-503, (2010). View articlePMID: 20008512
11.Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities. Kijas AW, Harris JL, Harris JM, Lavin MF. J. Biol. Chem. 281, 13939-48, (2006). View articlePMID: 16547001
12.Phenotypic variability of aprataxin gene mutations. Tranchant C, Fleury M, Moreira MC, Koenig M, Warter JM. Neurology 60, 868-70, (2003). PMID: 12629250
13.Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia. Hirano M, Nishiwaki T, Kariya S, Furiya Y, Kawahara M, Ueno S. Neurosci Lett 366, 120-5, (2004). PMID: 15276230
14.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. Clements PM, Breslin C, Deeks ED, Byrd PJ, Ju L, Bieganowski P, Brenner C, Moreira MC, Taylor AM, Caldecott KW. DNA Repair (Amst.) 3, 1493-502, (2004). View articlePMID: 15380105
15.Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, DiMauro S, Hirano M. Neurology 64, 539-41, (2005). PMID: 15699391
16.Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Date H, Onodera O, Tanaka H, Iwabuchi K, Uekawa K, Igarashi S, Koike R, Hiroi T, Yuasa T, Awaya Y, Sakai T, Takahashi T, Nagatomo H, Sekijima Y, Kawachi I, Takiyama Y, Nishizawa M, Fukuhara N, Saito K, Sugano S, Tsuji S. Nat. Genet. 29, 184-8, (2001). View articlePMID: 11586299
17.Actions of aprataxin in multiple DNA repair pathways. Rass U, Ahel I, West SC. J. Biol. Chem. 282, 9469-74, (2007). View articlePMID: 17276982