Aprataxin (APTX)

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AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT; Ataxia 1,Early Onset With Hypoalbuminemia; Forkhead-associated domain histidine triad-like protein

Aprataxin (APTX)

Aprataxin is 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.Moreira et al. (2001) identified 2 major mRNA species of APTX resulting from alternative splicing of exon 3: a short form of 168 amino acids and the first ATG codon in exon 3, and a long form with an additional 115 nucleotides of the 5-prime portion of exon 3, resulting in the addition of another 174 amino acids (for a total of 342 amino acids) and the first codon ATG codon in exon 1.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Aprataxin (APTX) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Aprataxin (APTX) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Aprataxin (APTX) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Aprataxin (APTX) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aprataxin (APTX) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Aprataxin (APTX) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Aprataxin (APTX) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Aprataxin (APTX) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Aprataxin (APTX) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aprataxin (APTX) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Aprataxin (APTX) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Aprataxin (APTX) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Aprataxin (APTX) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Aprataxin (APTX) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aprataxin (APTX) ELISA Kit Customized Service Offer
  1. "Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia."Neurosci. Lett. 366:120-125(2004) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  4. "DNA sequence and analysis of human chromosome 9." Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene." Nat. Genet. 29:184-188(2001) [PubMed] [Europe PMC] [Abstract]
  7. "The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin."Nat. Genet. 29:189-193(2001) [PubMed] [Europe PMC] [Abstract]
  8. "Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein."Ann. Neurol. 55:241-249(2004) [PubMed] [Europe PMC] [Abstract]
  9. "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 3:1493-1502(2004) [PubMed] [Europe PMC] [Abstract]
  10. "Aprataxin, a novel protein that protects against genotoxic stress."Hum. Mol. Genet. 13:1081-1093(2004) [PubMed] [Europe PMC] [Abstract]
  11. "Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription."Hum. Mol. Genet. 15:2239-2249(2006) [PubMed] [Europe PMC] [Abstract]
  12. "Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities."J. Biol. Chem. 281:13939-13948(2006) [PubMed] [Europe PMC] [Abstract]
  13. "The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates."Nature 443:713-716(2006) [PubMed] [Europe PMC] [Abstract]
  14. "Actions of aprataxin in multiple DNA repair pathways."J. Biol. Chem. 282:9469-9474(2007) [PubMed] [Europe PMC] [Abstract]
  15. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  16. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  17. "CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response."Nucleic Acids Res. 38:1489-1503(2010) [PubMed] [Europe PMC] [Abstract]
  18. "Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations."Neurology 59:590-595(2002) [PubMed] [Europe PMC] [Abstract]
  19. "Phenotypic variability of aprataxin gene mutations."Neurology 60:868-870(2003) [PubMed] [Europe PMC] [Abstract]
  20. "Cerebellar ataxia with oculomotor apRAxia type 1: clinical and genetic studies."Brain 126:2761-2772(2003) [PubMed] [Europe PMC] [Abstract]
  21. "Very late onset in ataxia oculomotor apraxia type I."Ann. Neurol. 57:777-777(2005) [PubMed] [Europe PMC] [Abstract]
  22. "Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation."Neurology 64:539-541(2005) [PubMed] [Europe PMC] [Abstract]