Pax3 - paired box 3 Gene

Mus musculus

Also known as Sp; Pax-3; Splchl2; splotch

Gene ID: 18505 | Gene type: protein coding

About Pax3

Summary

Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; chromatin binding activity; and transcription coregulator binding activity. Acts upstream of or within several processes, including animal organ development; nervous system development; and regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including branchial arch; central nervous system; embryo mesenchyme; nose; and urinary system. Used to study Waardenburg syndrome type 1; alveolar rhabdomyosarcoma; and neural tube defect. Human ortholog(s) of this gene implicated in Waardenburg syndrome type 1; Waardenburg syndrome type 3; Waardenburg's syndrome; alveolar rhabdomyosarcoma; and craniofacial-deafness-hand syndrome. Orthologous to human PAX3 (paired box 3). [provided by Alliance of Genome Resources, Apr 2022]

Pax3 Products(2)

mRNA	Protein	Name
NM_001159520.1	NP_001152992.1	paired box protein Pax-3 isoform b
NM_008781.4	NP_032807.3	paired box protein Pax-3 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	15729346	MGI
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IGI IGI: Inferred from genetic interaction	15729346	MGI
enables chromatin binding	IDA IDA: Inferred from direct assay	15729346	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	9464541	MGI
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	11863357	MGI
enables transcription coregulator binding	IPI IPI: Inferred from physical interaction	9731536	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within cell migration	IMP IMP: Inferred from mutant phenotype	17974128	MGI
acts upstream of cell population proliferation	IMP IMP: Inferred from mutant phenotype	10946068	MGI
acts upstream of or within developmental pigmentation	IMP IMP: Inferred from mutant phenotype	15322542	MGI
acts upstream of or within heart development	IMP IMP: Inferred from mutant phenotype	10231856	MGI
acts upstream of or within mammary gland specification	IMP IMP: Inferred from mutant phenotype	16720875	MGI
acts upstream of or within muscle organ development	IMP IMP: Inferred from mutant phenotype	15132998	MGI
acts upstream of or within myoblast migration	IMP IMP: Inferred from mutant phenotype	15132998	MGI
acts upstream of or within myoblast proliferation	IMP IMP: Inferred from mutant phenotype	15132998	MGI
acts upstream of or within negative regulation of transcription by RNA polymerase II	IGI IGI: Inferred from genetic interaction	15729346	MGI
acts upstream of or within neural crest cell migration	IMP IMP: Inferred from mutant phenotype	15384171	MGI
acts upstream of or within neural tube closure	IMP IMP: Inferred from mutant phenotype	15384171	MGI
acts upstream of or within neural tube development	IGI IGI: Inferred from genetic interaction	10419687	MGI
acts upstream of or within neuron fate commitment	IGI IGI: Inferred from genetic interaction	9858722	MGI
acts upstream of or within positive regulation of stem cell proliferation	IMP IMP: Inferred from mutant phenotype	10946068	MGI
acts upstream of or within positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	15729346	MGI
acts upstream of or within regulation of somitogenesis	IGI IGI: Inferred from genetic interaction	17974128	MGI
acts upstream of or within regulation of somitogenesis	IMP IMP: Inferred from mutant phenotype	17974128	MGI
acts upstream of or within skeletal muscle organ development	IMP IMP: Inferred from mutant phenotype	24443808	MGI
acts upstream of or within spinal cord association neuron differentiation	IGI IGI: Inferred from genetic interaction	9858722	MGI
acts upstream of stem cell proliferation	IMP IMP: Inferred from mutant phenotype	10946068	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	21177767	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

paired box protein Pax-3

PAX3/FKHR fusion

paired box gene 3

Related Agents

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B1152	Piperacetazine		99.86%	Unkown

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-139348	PFI-90		99.86%	Unkown
HY-112056	DIM-C-pPhCO2Me		99.47%	Unkown
HY-RS10090	PAX3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS19929	Pax3 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS26431	Pax3 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Pax3	NCBI	NCBI:5077

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