Aprataxin

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"APTX" redirects here. For audio codec, see aptX. For the fictional poison in the Japanese cartoon Case Closed, see APTX 4869.
Aprataxin
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols APTX ; AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT
External IDs OMIM606350 MGI1913658 HomoloGene41634 GeneCards: APTX Gene
RNA expression pattern
PBB GE APTX 218527 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 54840 66408
Ensembl ENSG00000137074 ENSMUSG00000028411
UniProt Q7Z2E3 Q7TQC5
RefSeq (mRNA) NM_001195248 NM_001025444
RefSeq (protein) NP_001182177 NP_001020615
Location (UCSC) Chr 9:
32.97 – 33.03 Mb
Chr 4:
40.68 – 40.7 Mb
PubMed search [1] [2]

Aprataxin is a protein that in humans is encoded by the APTX gene.[1][2][3]

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.[3]

Function[edit]

Aprataxin removes AMP from DNA ends following abortive ligation attempts by DNA Ligase IV during non-homologous end joining, thereby permitting subsequent attempts at ligation.[4][5]

Interactions[edit]

Aprataxin has been shown to interact with:

References[edit]

  1. ^ 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 (Oct 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. 
  2. ^ 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 (Oct 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. 
  3. ^ a b "Entrez Gene: APTX aprataxin". 
  4. ^ Rass U, Ahel I, West SC (December 2008). "Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin". J. Biol. Chem. 283 (49): 33994–4001. doi:10.1074/jbc.M807124200. PMC 2662222. PMID 18836178. 
  5. ^ Reynolds JJ, El-Khamisy SF, Katyal S, Clements P, McKinnon PJ, Caldecott KW (March 2009). "Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1". Mol. Cell. Biol. 29 (5): 1354–62. doi:10.1128/MCB.01471-08. PMC 2643831. PMID 19103743. 
  6. ^ a b Date H, Igarashi S, Sano Y, Takahashi T, Takahashi T, Takano H, Tsuji S, Nishizawa M, Onodera O (December 2004). "The FHA domain of aprataxin interacts with the C-terminal region of XRCC1". Biochem. Biophys. Res. Commun. 325 (4): 1279–85. doi:10.1016/j.bbrc.2004.10.162. PMID 15555565. 
  7. ^ a b c Gueven N, Becherel OJ, Kijas AW, Chen P, Howe O, Rudolph JH, Gatti R, Date H, Onodera O, Taucher-Scholz G, Lavin MF (May 2004). "Aprataxin, a novel protein that protects against genotoxic stress". Hum. Mol. Genet. 13 (10): 1081–93. doi:10.1093/hmg/ddh122. PMID 15044383. 
  8. ^ Clements PM, Breslin C, Deeks ED, Byrd PJ, Ju L, Bieganowski P, Brenner C, Moreira MC, Taylor AM, Caldecott KW (November 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". DNA Repair (Amst.) 3 (11): 1493–502. doi:10.1016/j.dnarep.2004.06.017. PMID 15380105. 

Further reading[edit]

External links[edit]