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Orthologous residues
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NBS1 (human): S343‑p, NBS1 (mouse): S343‑p
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Characterization
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Methods used to characterize site in vivo:
electrophoretic mobility shift, mutation of modification site, phospho-antibody, western blotting
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Disease tissue studied:
ataxia-telangiectasia
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Relevant cell lines - cell types - tissues:
AT1ABR (lymphoblastoid), AT3ABR (lymphoblastoid), C2ABR (lymphoblastoid), C30ABR (lymphoblastoid), C3ABR (lymphoblastoid), L3 (lymphoblastoid)
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Cellular systems studied:
cell lines
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Species studied:
human
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Enzymes shown to modify site in vitro:
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Upstream Regulation
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Potential in vivo enzymes for site:
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Type
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Enzyme
|
Evidence
|
Notes
|
|
KINASE
|
ATM (human)
|
genetic knockout/knockin of upstream enzyme, phospho-antibody, genetic transfer of inducible upstream enzyme, pharmacological activator of upstream enzyme, electrophoretic mobility shift, co-immunoprecipitation
|
|
|
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Treatments, proteins and their effect on site modification:
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|
Treatments
|
Referenced Treatments
|
Manipulated Protein
|
Referenced Protein
|
Effect
|
Notes
|
|
wortmannin
|
|
|
|
no change compared to control
|
|
|
ionizing radiation
|
|
|
|
increase
|
|
|
|
Downstream Regulation
|
|
Effect of modification (function):
activation
|
|
Effect of modification (process):
cell growth, altered
|
|
Comments:
more cell survival after ionizing radiation
|
