Curated Information
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PubMed Id: 17940005 
This page summarizes selected information from the article referenced above and curated into PhosphoSitePlus®, a comprehensive online resource for the study of protein post-translational modifications (NAR, 2012,40:D261-70). To learn more about the scope of PhosphoSitePlus®, click here.
Stewart GS, et al. (2007) RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling. Proc Natl Acad Sci U S A 104, 16910-5 17940005
Only sites from this record are displayed on this page. Click on the protein name to open the protein page, and on the RSD number to open the site page. For the complete dataset, click the download button, on the right.
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S1778-p - 53BP1 (human) ▲
Orthologous residues
53BP1 (human): S1778‑p, 53BP1 (mouse): C1763‑p, 53BP1 (rat): C1778‑p
Characterization
 Methods used to characterize site in vivo:  phospho-antibody, western blotting
 Disease tissue studied:  RIDDLE syndrome
 Relevant cell lines - cell types - tissues:  fibroblast
 Cellular systems studied:  primary cultured cells
 Species studied:  human
Upstream Regulation
 Treatments, proteins and their effect on site modification: 
Treatments Referenced Treatments Manipulated Protein Referenced Protein Effect Notes
ionizing radiation increase
Associated Diseases
Diseases: Alterations: Comments:
RIDDLE syndrome hyperphosphorylation in irradiated fibroblasts

S1981-p - ATM (human) ▲
Orthologous residues
ATM (human): S1981‑p, ATM (mouse): S1987‑p
Characterization
 Methods used to characterize site in vivo:  phospho-antibody, western blotting
 Disease tissue studied:  RIDDLE syndrome
 Relevant cell lines - cell types - tissues:  fibroblast, MEF (fibroblast) [53BP1 (human), homozygous knockout]
 Cellular systems studied:  cell lines, primary cultured cells
 Species studied:  human, mouse
Upstream Regulation
 Treatments, proteins and their effect on site modification: 
Treatments Referenced Treatments Manipulated Protein Referenced Protein Effect Notes
ionizing radiation increase
ionizing radiation 53BP1 (human) inhibit treatment-induced increase in 53BP1 KO mice
Downstream Regulation
 Effect of modification (function):  enzymatic activity, induced, intracellular localization
 Comments:  fails to properly relocalize to the sites of DNA damage in fibroblasts from patients with RIDDLE syndrome
Associated Diseases
Diseases: Alterations: Comments:
RIDDLE syndrome hyperphosphorylation in irradiated fibroblasts

S345-p - Chk1 (human) ▲
Orthologous residues
Chk1 (human): S345‑p, Chk1 (mouse): S345‑p, Chk1 (rat): S345‑p, Chk1 (chicken): S345‑p
Characterization
 Methods used to characterize site in vivo:  phospho-antibody, western blotting
 Disease tissue studied:  RIDDLE syndrome
 Relevant cell lines - cell types - tissues:  fibroblast
 Cellular systems studied:  primary cultured cells
 Species studied:  human
Upstream Regulation
 Treatments, proteins and their effect on site modification: 
Treatments Referenced Treatments Manipulated Protein Referenced Protein Effect Notes
ionizing radiation increase
Downstream Regulation
 Effect of modification (process):  cell cycle regulation
Associated Diseases
Diseases: Alterations: Comments:
RIDDLE syndrome hypophosphorylation in irradiated fibroblasts

S343-p - NBS1 (human) ▲
Orthologous residues
NBS1 (human): S343‑p, NBS1 (mouse): S343‑p
Characterization
 Methods used to characterize site in vivo:  phospho-antibody, western blotting
 Disease tissue studied:  RIDDLE syndrome
 Relevant cell lines - cell types - tissues:  fibroblast
 Cellular systems studied:  primary cultured cells
 Species studied:  human
Upstream Regulation
 Treatments, proteins and their effect on site modification: 
Treatments Referenced Treatments Manipulated Protein Referenced Protein Effect Notes
ionizing radiation increase
Associated Diseases
Diseases: Alterations: Comments:
RIDDLE syndrome hyperphosphorylation in irradiated fibroblasts

S966-p - Smc1 (human) ▲
Orthologous residues
Smc1 (human): S966‑p, Smc1 (mouse): S966‑p, Smc1 (rat): S966‑p
Characterization
 Methods used to characterize site in vivo:  phospho-antibody, western blotting
 Disease tissue studied:  RIDDLE syndrome
 Relevant cell lines - cell types - tissues:  fibroblast
 Cellular systems studied:  primary cultured cells
 Species studied:  human
Upstream Regulation
 Treatments, proteins and their effect on site modification: 
Treatments Referenced Treatments Manipulated Protein Referenced Protein Effect Notes
ionizing radiation increase
Associated Diseases
Diseases: Alterations: Comments:
RIDDLE syndrome hyperphosphorylation in irradiated fibroblasts


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