Aprataxin

From Wikipedia, the free encyclopedia

Aprataxin

Identifiers

APTX; AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT; FLJ20157; MGC1072

External IDs

OMIM: 606350 MGI: 1913658 HomoloGene: 41634

Gene ontology
Molecular Function:	• nucleic acid binding • damaged DNA binding • protein binding • zinc ion binding • metal ion binding
Cellular Component:	• intracellular • nucleus
Biological Process:	• single strand break repair • base-excision repair • cell death

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_017692 (mRNA)
NP_060162 (protein)

NM_001025445 (mRNA)
NP_001020616 (protein)

Location

Chr 9: 32.96 - 33.02 Mb

Chr 4: 40.87 - 40.89 Mb

Pubmed search

[1]

[2]

Aprataxin, also known as APTX, is a human gene.^[1]

This gene encodes a member of the histidine triad (HIT) superfamily, some of which have nucleotide-binding and diadenosine polyphosphate hydrolase activities. The encoded protein may play a role in single-stranded DNA repair. Mutations in this gene have been associated with ataxia-ocular apraxia. Multiple transcript variants encoding distinct isoforms have been identified for this gene, however, the full length nature of some variants has not been determined.^[1]

[edit] References

^ ^a ^b Entrez Gene: APTX aprataxin.

[edit] Further reading

Aicardi J, Barbosa C, Andermann E, et al. (1989). "Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia.". Ann. Neurol. 24 (4): 497-502. doi:10.1002/ana.410240404. PMID 3239952.
Gascon GG, Abdo N, Sigut D, et al. (1995). "Ataxia-oculomotor apraxia syndrome.". J. Child Neurol. 10 (2): 118-22. PMID 7782601.
Hannan MA, Sigut D, Waghray M, Gascon GG (1995). "Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families.". J. Med. Genet. 31 (12): 953-6. PMID 7891378.
Moreira MC, Barbot C, Tachi N, et al. (2001). "Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.". Am. J. Hum. Genet. 68 (2): 501-8. PMID 11170899.
Date H, Onodera O, Tanaka H, et al. (2001). "Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.". Nat. Genet. 29 (2): 184-8. doi:10.1038/ng1001-184. PMID 11586299.
Moreira MC, Barbot C, Tachi N, et al. (2001). "The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.". Nat. Genet. 29 (2): 189-93. doi:10.1038/ng1001-189. PMID 11586300.
Brenner C (2002). "Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases.". Biochemistry 41 (29): 9003-14. PMID 12119013.
Shimazaki H, Takiyama Y, Sakoe K, et al. (2002). "Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.". Neurology 59 (4): 590-5. PMID 12196655.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
Tranchant C, Fleury M, Moreira MC, et al. (2004). "Phenotypic variability of aprataxin gene mutations.". Neurology 60 (5): 868-70. PMID 12629250.
Le Ber I, Moreira MC, Rivaud-Péchoux S, et al. (2003). "Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.". Brain 126 (Pt 12): 2761-72. doi:10.1093/brain/awg283. PMID 14506070.
Sekijima Y, Hashimoto T, Onodera O, et al. (2004). "Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation.". Mov. Disord. 18 (10): 1198-200. doi:10.1002/mds.10526. PMID 14534929.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.
Sano Y, Date H, Igarashi S, et al. (2004). "Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein.". Ann. Neurol. 55 (2): 241-9. doi:10.1002/ana.10808. PMID 14755728.
Gueven N, Becherel OJ, Kijas AW, et al. (2004). "Aprataxin, a novel protein that protects against genotoxic stress.". Hum. Mol. Genet. 13 (10): 1081-93. doi:10.1093/hmg/ddh122. PMID 15044383.
Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9.". Nature 429 (6990): 369-74. doi:10.1038/nature02465. PMID 15164053.
Habeck M, Zühlke C, Bentele KH, et al. (2004). "Aprataxin mutations are a rare cause of early onset ataxia in Germany.". J. Neurol. 251 (5): 591-4. doi:10.1007/s00415-004-0374-7. PMID 15164193.
Hirano M, Nishiwaki T, Kariya S, et al. (2004). "Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.". Neurosci. Lett. 366 (2): 120-5. doi:10.1016/j.neulet.2004.05.034. PMID 15276230.
Amouri R, Moreira MC, Zouari M, et al. (2005). "Aprataxin gene mutations in Tunisian families.". Neurology 63 (5): 928-9. PMID 15365154.
Clements PM, Breslin C, Deeks ED, et al. (2005). "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.". DNA Repair (Amst.) 3 (11): 1493-502. doi:10.1016/j.dnarep.2004.06.017. PMID 15380105.