Pax3 paired box 3 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Pax3provided by RGD
Official Full Name: paired box 3provided by RGD
Primary source: RGD:620431
See related: EnsemblRapid:ENSRNOG00000013670 AllianceGenome:RGD:620431
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Enables HMG box domain binding activity. Predicted to be involved in nervous system development and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including nervous system development; regulation of somitogenesis; and regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Human ortholog(s) of this gene implicated in Waardenburg syndrome; Waardenburg syndrome type 1; Waardenburg syndrome type 3; alveolar rhabdomyosarcoma; and craniofacial-deafness-hand syndrome. Orthologous to human PAX3 (paired box 3). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Brain (RPKM 1.7), Muscle (RPKM 1.2) and 2 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 9q33

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	9	NC_086027.1 (87015960..87112531, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	9	NC_051344.1 (79567455..79664042, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	9	NC_005108.4 (84004004..84101226, complement)

Chromosome 9 - NC_086027.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PAX3 promotes expression of CXCR4 and facilitates migration of neural crest cells.
Title: PAX3 Promotes Cell Migration and CXCR4 Gene Expression in Neural Crest Cells.
PAX3 could inhibit the neuronal differentiation of neural stem celland the expression of TUBB3.
Title: PAX3 inhibits β-Tubulin-III expression and neuronal differentiation of neural stem cell.
These findings indicate new roles for the Pax-3 transcription factor in controlling the differentiation and proliferation of Schwann cells during development and after peripheral nerve injury.
Title: Regulation of Schwann cell differentiation and proliferation by the Pax-3 transcription factor.
Pax3 gene expression is unaltered in the pleuroperitoneal folds & developing diaphragm in the nitrofen congenital diaphragmatic hernia model.The diaphragmatic defect is not caused by disturbance of myogenesis & muscularization.
Title: Pax3 gene expression is not altered during diaphragmatic development in nitrofen-induced congenital diaphragmatic hernia.
Pax3 negatively regulates GFAP expression during astrocyte differentiation in vitro
Title: Downregulation of Pax3 expression correlates with acquired GFAP expression during NSC differentiation towards astrocytes.
Pax3 and Pax7, both in vitro and in vivo, participated in the differentiation and regeneration events of muscle
Title: Pax3 and Pax7 expression during myoblast differentiation in vitro and fast and slow muscle regeneration in vivo.
Pax3 and 7 coordinate the recapitulation of developmental-like regulatory mechanisms in response to growth-inducing stimuli in adult skeletal muscle
Title: PAX3/7 expression coincides with MyoD during chronic skeletal muscle overload.
Pax3 is underexpressed in the hearts of nitrofen-exposed embryonal rats before the end of gestation.
Title: Pax3 mRNA is decreased in the hearts of rats with experimental diaphragmatic hernia.

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General gene information

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Markers

RH142754 (e-PCR)
- UniSTS:232001

X59358 (e-PCR)
- UniSTS:125811

Pax3 (e-PCR), detects polymorphism
- UniSTS:256628

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	NAS Non-traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables HMG box domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription coregulator binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of cell population proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within developmental pigmentation	ISO Inferred from Sequence Orthology more info
involved_in gliogenesis	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within heart development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mammary gland specification	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within muscle organ development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within myoblast migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within myoblast proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neural crest cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural tube closure	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural tube development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron fate commitment	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of stem cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of somitogenesis	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within skeletal muscle organ development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spinal cord association neuron differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of stem cell proliferation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: paired box protein Pax-3

Names: homeodomain protein PAX3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_053710.1 → NP_446162.1 paired box protein Pax-3

Status: VALIDATED

Source sequence(s)

JAXUCZ010000009

UniProtKB/TrEMBL

A0A8I6ATQ4, F1LMV3

Related

ENSRNOP00000018652.5, ENSRNOT00000018652.7

Conserved Domains (4) summary

smart00351
Location:34 → 159

PAX; Paired Box domain

pfam12360
Location:347 → 391

Pax7; Paired box protein 7

pfam00046
Location:222 → 276

Homeobox; Homeobox domain

pfam06991
Location:164 → 286

MFAP1; Microfibril-associated/Pre-mRNA processing

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086027.1 Reference GRCr8

Range

87015960..87112531 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006245131.5 → XP_006245193.1 paired box protein Pax-3 isoform X1

UniProtKB/TrEMBL

A0A8I6ATQ4

Conserved Domains (4) summary

smart00351
Location:34 → 158

PAX; Paired Box domain

pfam12360
Location:346 → 390

Pax7; Paired box protein 7

pfam00046
Location:221 → 275

Homeobox; Homeobox domain

pfam06991
Location:163 → 285

MFAP1; Microfibril-associated/Pre-mRNA processing