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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

ATAD5  -  ATPase family, AAA domain containing 5

Homo sapiens

Synonyms: ATPase family AAA domain-containing protein 5, C17orf41, Chromosome fragility-associated gene 1 protein, ELG1, FLJ12735, ...
 
 
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Disease relevance of ATAD5

  • Sprouting of synapses after partial denervation of frag cardic ganglion [1].
  • We developed and evaluated a new medium (FRAG agar) for the selective isolation and presumptive identification of the Bacteroides fragilis group [2].
 

High impact information on ATAD5

  • We propose that the Frag1 signal pathway, by linking replication stress surveillance with apoptosis induction, plays a central role in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis [3].
  • FRAG1 was identified in a search for key caretaker genes involved in the regulation of genomic stability under conditions of replicative stress [3].
  • Reexamination of the deleted region revealed two novel functional genes FLJ12735 (AK022797) and KIAA0653-related (WI-12393 and AJ314647), the latter of which is located closest to the distal boundary and is partially duplicated [4].
  • Two fragments, FRAG (468-692) (nucleotides 468 to 692, corresponding to the mid-portion of the receptor extracellular domain) and FRAG (2044-2295) (nucleotides 2044 to 2295, corresponding to the COOH-terminal, cytoplasmic domain of the TSH-R cDNA) showed differences in electrophoretic mobility among the various thyroid tissue samples [5].

References

  1. Sprouting of synapses after partial denervation of frag cardic ganglion. Courtney, K., Roper, S. Nature (1976) [Pubmed]
  2. Medium for selective isolation and presumptive identification of the Bacteroides fragilis group. Lyznicki, J.M., Busch, E.L., Blazevic, D.J. J. Clin. Microbiol. (1982) [Pubmed]
  3. Frag1, a homolog of alternative replication factor C subunits, links replication stress surveillance with apoptosis. Ishii, H., Inageta, T., Mimori, K., Saito, T., Sasaki, H., Isobe, M., Mori, M., Croce, C.M., Huebner, K., Ozawa, K., Furukawa, Y. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  4. Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Jenne, D.E., Tinschert, S., Reimann, H., Lasinger, W., Thiel, G., Hameister, H., Kehrer-Sawatzki, H. Am. J. Hum. Genet. (2001) [Pubmed]
  5. Point mutations in the thyrotropin receptor in human thyroid tumors. Ohno, M., Endo, T., Ohta, K., Gunji, K., Onaya, T. Thyroid (1995) [Pubmed]
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