| basic FUNCTION
| involved in neurogenesis, in skeletal muscle development and in melanogenesis through MITF transactivation and maybe other processes (see BARMS2, WS1, WS2, WS3) |
|
essential for skeletal myogenesis and the expression of transcription factors Mox1 and Six1 and its cofactor Eya2  |
|
plays a role in regulating HES1 and NEUROG2 activity and thereby stem cell maintenance and neurogenesis |
|
initiates a melanogenic cascade at a nodal point in adult melanocyte stem cell differentiation |
|
playing critical roles during fetal development |
|
with PAX7, function to maintain expression of myogenic regulatory factors, and promote population expansion, but are also required for myogenic differentiation to proceed |
|
PAX3 regulates TGFbeta2 by directly binding to cis-regulatory elements on its promoter |
|
Pax3 acetylation results in decreased Hes1 and increased Neurog2 activity, thereby promoting sensory neuron differentiation |
|
FOXD3 and PAX3 act together to affect survival and maintenance of cardiac neural crest progenitors |
|
regulator of GFAP transcription, which could bind the promoter region of GFAP and down regulate the GFAP level during the serum-induced astrocyte differentiation of neural stem cells |
|
both PAX3 and PAX7 transcripts are required for commitment of cells to the myogenic lineage, with each transcript having a distinct role |
|
essential for dorsal neural tube, early neural crest and muscle cell lineage morphogenesis, but is not required for subsequent cardiac neural crest progeny morphogenesis involving their migration to the heart or septation of the outflow tract |
|
regulates complex differentiation networks in both melanoma cells and melanocytes to maintain cells as "stem" cell-like |
|
contribute to melanoma development and progression |
|
plays an essential role in early skeletal muscle development |
|
PAX7 and its homologue PAX3 are important players in neural crest and muscle development |
CELLULAR PROCESS
 |
nucleotide, transcription, regulation
|
| PHYSIOLOGICAL PROCESS
|
development
, neurogenesis
|
| signaling
|
sensory transduction/hearing
|
|
| PAX3/DMRT2/MYF5 regulatory cascade operating in stem cells of the epaxial dermomyotome to initiate skeletal muscle formation |
| a component
| forming a heterodimer with PAX7 |
| DNA
| MITF promoter |
|
promoter region of several factors including cannabinoid receptor-1, BMP4, EPHA2 and EPHA4 |
|
activates MYOD1 gene |
| protein
| TATA-box-binding and retinoblastoma proteins |
|
Daxx |
|
Mox1 and Mox2 |
|
EF-hand calcium-binding protein calmyrin |
|
PDZ-binding motif TAZ |
|
TGFbeta2 |
|
HDAC10 |
|
TAF1 binds directly to PAX3 and overexpression of TAF1 increases the level of monoubiquitinated PAX3 and its degradation by the proteasome |
|
negatively regulates GFAP expression during astrocyte differentiation |
|
interdependent regulatory loops involving PAX3 and PAX7 in the dorsal mesencephalic vesicle modulate MEIS2 expression |
|
CSNK2A1 is the kinase responsible for phosphorylation PAX3 at Ser209, but also enables us to propose a mechanism describing the ordered and differential phosphorylation of PAX3 throughout early myogenesis |
|
TCOF1 acts as a modifier of PAX3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis |
|
GPR39 phosphorylating CAMK2A, CAMK2B contributes to the distinct roles of PAX3 and PAX7 in myogenic progression |
| inhibited by
| EF-hand calcium-binding protein calmyrin |
| repressed by
| death-domain associated protein, Daxx |
| Phosphorylated by
| protein kinase GSK3B phosphorylating PAX3 at serine 201 |
|
| is phosphorylated by CSNK2A1 at Ser205 in proliferating myoblast |
| Other
| regulated by a regulatory loop between GLI2, MEOX1, and PAX3 that is essential for specification of mesodermal cells into the muscle lineage |
|
| SUMO-1 modified PML can derepress Pax3 transcriptional activity through sequestration of the Daxx repressor into the nuclear bodies |
|
| regulated by ubiquitination and proteasomal degradation during adult muscle stem cell activation |
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
| fusion
| translocation
|
|
| |
to FOXO1/FKHR in alveolar rhabdomyosarcoma with t(2;13)(q35,q14), promoting malignant phenotypes such as proliferation, motility, and to suppress differentiation | | tumoral
| fusion
| translocation
|
|
| |
t(2;2)(q35;p23), which generates a fusion protein composed of PAX3 and the nuclear receptor coactivator NCOA1, in alveolar rhabdomyosarcoma | |
Variant & Polymorphism
| 
| |
Candidate gene
Marker
Therapy target
|
| | | |
|
| heterozygous Pax3-FKHR knock-in mice show developmental abnormalities: intraventricular septum defects, tricuspid valve insufficiency, and diaphragm defects, which caused congestive heart failure leading to perinatal death |
