Encyclopedia of Signaling Molecules

Living Edition
| Editors: Sangdun Choi

Ataxia Telangiectasia and Rad3-Related (ATR)

  • Poorwa Awasthi
  • Vipin Kumar Yadav
  • Manisha Dixit
  • Amit Kumar
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-6438-9_101789-1

Synonyms

Homologs

Saccharomyces pombe – Rad3

Saccharomyces cerevisiae – Mec1p

Drosophila melanogaster – Mei-41

Historical Background

Ataxia Telangiectasia and Rad3-related (ATR) or FRAP-related protein-1 (FRP1) is a 2644 amino acid protein kinase, located on chromosome 3q23 (Cimprich et al. 1996), which has 10 alternatively transcribed variants. ATR belongs to the PIKK (phosphatidylinositol 3-kinase related kinase) family of kinases (reviewed in Kidiyoor et al. 2016). Hypomorphic mutations in the ATR gene are associated with a rare autosomal recessive disorder, Seckel syndrome (OMIM #210600), characterized by intrauterine growth retardation, dwarfism, microcephaly, and mental retardation (Ogi et al. 2012); with cutaneous telangiectasia; mild developmental anomalies of hair, teeth, and nails; and a predisposition to cancer,...

Keywords

Ataxia Telangiectasia Mutate Replication Stress Origin Firing Stall Replication Fork Heat Repeat 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

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Copyright information

© Springer Science+Business Media LLC 2017

Authors and Affiliations

  • Poorwa Awasthi
    • 1
    • 2
  • Vipin Kumar Yadav
    • 1
    • 2
  • Manisha Dixit
    • 1
    • 2
  • Amit Kumar
    • 1
    • 2
  1. 1.Developmental Toxicology Laboratory, Systems Toxicology and Health Risk Assessment GroupCSIR-Indian Institute of Toxicology ResearchLucknowIndia
  2. 2.Academy of Scientific and Innovative Research (AcSIR), CSIR-IITR CampusLucknowIndia