Curated Information
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Curated Information Page
PubMed Id: 10587587 
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.
Takeda K, et al. (2000) Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance. Hum Mol Genet 9, 125-32 10587587
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S298-p - MITF iso9 (human)
Orthologous residues
MITF (human): S405‑p, MITF iso5 (human): S404‑p, MITF iso9 (human): S298‑p, MITF (mouse): S405‑p, MITF iso8 (mouse): S298‑p, MITF (rat): S405‑p
Characterization
 Methods used to characterize site in vivo 2D analysis, [32P] bio-synthetic labeling, mutation of modification site, phosphopeptide mapping
 Relevant cell lines - cell types - tissues:  3T3 (fibroblast) [MITF iso9 (human)], CV1 (fibroblast) [GSK3B (human)], CV1 (fibroblast) [MITF iso9 (human)], melanocyte-skin
 Cellular systems studied:  cell lines, primary cells
 Species studied:  human, mouse
 Enzymes shown to modify site in vitro
Type Enzyme
KINASE GSK3B (human)
KINASE GSK3A (human)
Downstream Regulation
 Effect of modification (function):  activity, induced
 Effect of modification (process):  transcription, altered
Associated Diseases
Diseases: Alterations: Comments:
Waardenburg syndrome type 2 mutation of site


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