Property Summary

NCBI Gene PubMed Count 184
Grant Count 313
R01 Count 189
Funding $41,429,679.78
PubMed Score 657.11
PubTator Score 414.82

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P23760 G5E9C1 Q16448 Q494Z3 Q494Z4 Q53T90 Q6GSJ9 Q86UQ2 Q86UQ3
Symbols WS1
WS3
CDHS
HUP2

Gene

PDB

3CMY  

 GO Component (1)

 GWAS Trait (1)

Gene RIF (123)

PMID Text
26512583 mutation associated with single-side deafness
26371783 Report novel PAX3-NCOA1 gene fusions in biphenotypic sinonasal sarcomas with focal rhabdomyoblastic differentiation.
26329581 findings suggest a tumor suppressor role for APC/C(Cdh1) in melanocytes and that targeting PAX3 may be a strategy for treating melanoma.
26279250 All affected members of pedigree IR-WS-20 carried the mutation c.1024_1040 del AGCACGATTCCTTCCAA in exon 7 of PAX3, while none of the unaffected members and 50 of the ethnic matched controls tested had this deletion.
26275939 The results expand the spectrum of PAX3 mutations and may have implications for the genetic counseling of Waardenburg syndrome in Iran.
26252164 FOXD3 is sufficient but not necessary to drive PAX3 expression in melanoma cells.
26205821 Data show that transcription factors PAX3 and FOXD3-mediated melanoma cell migration is dependent on promoting the expression of chemokine receptor CXCR4.
26149688 findings suggest that PAX3 WS mutants interfere with the normal functions of PAX3 in a dominant negative manner, which is important to the understanding of the pathogenesis of Waardenburg syndrome
26071485 Secreted Frizzled-Related Protein 3 (SFRP3) Is Required for Tumorigenesis of PAX3-FOXO1-Positive Alveolar Rhabdomyosarcoma
25880082 PAX3 differentially regulates various downstream target genes involved in cell proliferation in melanoma cells compared to melanocytes.
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AA Sequence

MTTLAGAVPRMMRPGPGQNYPRSGFPLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIVEMAHHGIRPC      1 - 70
VISRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPKQVTTPDVEKKIEEYKRENPGMFSWEIRDKLLKD     71 - 140
AVCDRNTVPSVSSISRILRSKFGKGEEEEADLERKEAEESEKKAKHSIDGILSERASAPQSDEGSDIDSE    141 - 210
PDLPLKRKQRRSRTTFTAEQLEELERAFERTHYPDIYTREELAQRAKLTEARVQVWFSNRRARWRKQAGA    211 - 280
NQLMAFNHLIPGGFPPTAMPTLPTYQLSETSYQPTSIPQAVSDPSSTVHRPQPLPPSTVHQSTIPSNPDS    281 - 350
SSAYCLPSTRHGFSSYTDSFVPPSGPSNPMNPTIGNGLSPQVMGLLTNHGGVPHQPQTDYALSPLTGGLE    351 - 420
PTTTVSASCSQRLDHMKSLDSLPTSQSYCPPTYSTTGYSMDPVTGYQYGQYGQSKPWTF               421 - 479
//

Text Mined References (187)

PMID Year Title
26512583 2015 Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome.
26371783 2016 Novel PAX3-NCOA1 Fusions in Biphenotypic Sinonasal Sarcoma With Focal Rhabdomyoblastic Differentiation.
26329581 2015 The E3 ligase APC/C(Cdh1) promotes ubiquitylation-mediated proteolysis of PAX3 to suppress melanocyte proliferation and melanoma growth.
26279250 2015 A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family.
26275939 2015 Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations.
26252164 2016 FOXD3 Promotes PAX3 Expression in Melanoma Cells.
26205821 2015 PAX3 and FOXD3 Promote CXCR4 Expression in Melanoma.
26149688 2015 Loading of PAX3 to Mitotic Chromosomes Is Mediated by Arginine Methylation and Associated with Waardenburg Syndrome.
26071485 2015 Secreted Frizzled-Related Protein 3 (SFRP3) Is Required for Tumorigenesis of PAX3-FOXO1-Positive Alveolar Rhabdomyosarcoma.
25880082 2015 Mechanisms contributing to differential regulation of PAX3 downstream target genes in normal human epidermal melanocytes versus melanoma cells.
More...