PAX3
paired box gene 3
transcription factor involved in regulation of migration of cells from the dorsal dermomyotome or neural crest during myogenesis, melanogenesis, and neurogenesis [Pubmed]
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role in cancer | fusion, oncogene |
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impact of mutation on function | the fusion with MAML3 results in a phenotype characterized by aberrant expression of genes involved in neuroectodermal and myogenic differentiation, closely simulating the developmental roles of PAX3 [Pubmed] |
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fusion partner | FOXO1 in alveolar rhabdomyosarcoma [Pubmed]; NCOA1 in alveolar rhabdomyosarcoma [Pubmed]; NCOA2 in rhabdomyosarcoma [Pubmed]; MAML3 in sinonasal sarcoma [Pubmed] |
escaping programmed cell death
KD induces apoptosis [Pubmed]; inhibits apoptosis in brainstem progenitors [Pubmed]
proliferative signalling
phosphorylation at Ser201 enhances the proliferative capacity of the metastatic cell line in melanoma [Pubmed]; in the absence of p53, Pax3 promotes proliferation in brainstem progenitors [Pubmed]
invasion and metastasis
KD decreases the attachment of neuroblastoma SH-EP1 cells to ECM proteins and inhibits cell migration and invasion [Pubmed]; the absence of phosphorylation at Ser205 promotes the invasive capacity of both primary and metastatic cells in melanoma [Pubmed]
suppression of growth
Pax3 phosphorylated at Ser209 inhibits the proliferative capacity of both primary and metastatic tumour cells in melanoma [Pubmed]